General Information of Disease (ID: DIS9IRAV)

Disease Name Cerebellar ataxia
Synonyms rare ataxia; cerebellar dysmetria; cerebellar Dysmetrias; cerebellar Ataxias; ataxias, cerebellar; ataxia, cerebellar; ataxia; spinocerebellar ataxia; spinocerebellar Degeneration; ataxia syndrome
Definition
A neurological syndrome characterized by clumsy and uncoordinated movement of the limbs, trunk, and cranial muscles. It results from pathology in the cerebellum and its connections, or in the proprioceptive sensory pathways.|In ORDO this is called rare ataxia, we rename as ataxia since all forms are individually rare
Disease Hierarchy
DIS2O7WM: Cerebellar disorder
DISOJJ2D: Movement disorder
DIS6F440: Ataxia
DIS9IRAV: Cerebellar ataxia
Disease Identifiers
MONDO ID
MONDO_0000437
MESH ID
D002524
UMLS CUI
C0007758
MedGen ID
849
HPO ID
HP:0001251
Orphanet ID
102002
SNOMED CT ID
85102008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 63 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
KCNA1 TTS3DIK Limited Genetic Variation [1]
KCNB1 TT5OEKU Limited Genetic Variation [2]
PRKCG TTRFOXJ Limited Biomarker [3]
TPO TT52XDZ Disputed Biomarker [4]
ATM TTKBM7V moderate Biomarker [5]
GJB6 TTAU8SJ moderate Biomarker [6]
TDP1 TT64IHJ moderate Biomarker [7]
ACHE TT1RS9F Strong Altered Expression [8]
AFP TTCFEA1 Strong Altered Expression [9]
ANK1 TTKFPMH Strong Biomarker [10]
ATP1A2 TT5B6HJ Strong Genetic Variation [11]
BRSK2 TTHZN4X Strong CausalMutation [12]
C9orf72 TTA4SHR Strong Genetic Variation [13]
CACNA1A TTX4QDJ Strong Biomarker [14]
CACNA1G TT729IR Strong Genetic Variation [15]
CACNA2D2 TTU8P3M Strong Genetic Variation [16]
CAPN1 TT1WBIJ Strong Biomarker [17]
DLG4 TT9PB26 Strong Genetic Variation [18]
FGF14 TTKJX1V Strong Biomarker [19]
GAA TTLPC70 Strong Biomarker [20]
GAD1 TTKGEP3 Strong Biomarker [21]
GAD2 TT7UY6K Strong Biomarker [22]
GALC TT5IZRB Strong Genetic Variation [23]
GJC2 TTPOCAL Strong Genetic Variation [24]
GRIK4 TTQV6BO Strong Genetic Variation [25]
GRM5 TTHS256 Strong Biomarker [25]
HMBS TTT0HW3 Strong Genetic Variation [26]
HSD17B4 TTL1WGS Strong Biomarker [27]
HSPB1 TT9AZWY Strong Biomarker [28]
HTT TTIWZ0O Strong Genetic Variation [29]
ITPR1 TT5HWAT Strong Biomarker [30]
KCNC1 TTVUWHQ Strong Genetic Variation [31]
KCNC2 TTGK3ZO Strong Biomarker [32]
KCNC3 TTALSY9 Strong Genetic Variation [33]
KCND3 TTPLQO0 Strong Genetic Variation [34]
KCNJ10 TTG140O Strong Genetic Variation [35]
KCNN3 TT9JH25 Strong Biomarker [36]
KIF20B TTQECT2 Strong Biomarker [37]
MAG TT9XFON Strong Biomarker [38]
MAP3K20 TTTUZ3O Strong Biomarker [39]
MECP2 TTTAU9R Strong Biomarker [40]
MVK TT5DFHW Strong Genetic Variation [41]
OPA1 TTTU49Q Strong Genetic Variation [42]
OPHN1 TTU7HRD Strong Genetic Variation [43]
PKN1 TTSL41O Strong Biomarker [44]
PNPLA6 TTWAQU2 Strong Genetic Variation [45]
PSEN1 TTZ3S8C Strong Genetic Variation [46]
RGS6 TTJ96M8 Strong Biomarker [47]
SCN1A TTANOZH Strong Genetic Variation [48]
SCN8A TT54ERL Strong Genetic Variation [49]
SGCG TTSMT9W Strong Biomarker [50]
SLC1A3 TT8WRDA Strong Biomarker [51]
SLC2A1 TT79TKF Strong Genetic Variation [52]
SLC9A1 TTGSEFH Strong Biomarker [53]
SPTBN1 TTS9BDA Strong Genetic Variation [54]
TDP2 TTYF26D Strong Genetic Variation [55]
TPP1 TTOVYPT Strong Altered Expression [56]
TRH TT2Z39D Strong Biomarker [57]
TUBB2A TTJ2PTI Strong Genetic Variation [58]
ZUP1 TTZC0KV Strong Biomarker [59]
KCNA5 TTW0CMT Definitive Genetic Variation [60]
KCNA6 TTJ2W69 Definitive Genetic Variation [60]
PNKP TTHR3IE Definitive Genetic Variation [61]
------------------------------------------------------------------------------------
⏷ Show the Full List of 63 DTT(s)
This Disease Is Related to 7 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
ABCB7 DT2IMBW moderate Genetic Variation [62]
ABCA2 DTJ4NEG Strong Genetic Variation [63]
ABCD1 DTKM9DZ Strong Genetic Variation [64]
CACNB4 DTV8E46 Strong Genetic Variation [65]
SLC7A9 DTP7AEQ Strong Genetic Variation [66]
SLC9A6 DTN0JXW Strong Genetic Variation [67]
SLC9C2 DT2N5HO Strong Genetic Variation [68]
------------------------------------------------------------------------------------
⏷ Show the Full List of 7 DTP(s)
This Disease Is Related to 8 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
WARS2 DEPTKBQ Limited Genetic Variation [69]
ALAS2 DE437BY Strong Biomarker [70]
CYP7B1 DE36TMY Strong Genetic Variation [71]
MARS2 DEEH5Y9 Strong Genetic Variation [72]
PCYT1A DEQYXD4 Strong Biomarker [73]
PMM2 DEBRX3L Strong Biomarker [74]
SRD5A3 DEZGVDW Strong Genetic Variation [75]
TGM6 DEUWCVD Strong Biomarker [76]
------------------------------------------------------------------------------------
⏷ Show the Full List of 8 DME(s)
This Disease Is Related to 169 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ANO10 OTG3BNOU Limited Genetic Variation [77]
ARSG OTT7TDW7 Limited Biomarker [78]
ATXN1 OTQF0HNR Limited Biomarker [79]
COQ8A OT1ETSA2 Limited Genetic Variation [80]
FMR1 OTWEV0T5 Limited Biomarker [25]
GRID2 OTJ3R10R Limited Genetic Variation [81]
NFASC OTBDUXZT Limited Genetic Variation [82]
PDYN OTEJ6430 Limited Genetic Variation [83]
PPT2 OTD5VJ9A Limited Biomarker [84]
SACS OTZGXQ8A Limited Biomarker [85]
SAR1A OTSSRVGV Limited Biomarker [86]
SNX14 OTXI9C1E Limited Biomarker [87]
SPTBN2 OTDMJ75N Limited Genetic Variation [88]
AFG3L2 OTRPMAUX Disputed Genetic Variation [89]
ATP1A3 OTM8EG6H moderate Genetic Variation [90]
CA8 OT9Y8GA8 Moderate Autosomal recessive [91]
OPA3 OT6NDC1M moderate Genetic Variation [92]
RPL27A OTQQHPL0 moderate Biomarker [93]
SPG7 OT8OY9ST moderate Genetic Variation [94]
AARS1 OTW8D813 Strong Genetic Variation [95]
AARS2 OTOB0KSG Strong Biomarker [96]
ACER3 OTIVQBG5 Strong Biomarker [97]
ADGRB3 OT1EWGRW Strong Genetic Variation [98]
AGTPBP1 OTR92JFR Strong Biomarker [99]
AIFM1 OTKPWB7Q Strong Biomarker [100]
ALDH18A1 OT6W40XU Strong Biomarker [101]
ANKRD1 OTHJ7JV9 Strong Biomarker [102]
ANO3 OTM34U6Q Strong Genetic Variation [103]
ARHGAP26 OTNGQU7A Strong Biomarker [104]
ATP13A2 OTKWBUGK Strong Genetic Variation [105]
ATP2B2 OT1NPZ9T Strong Biomarker [106]
ATP8A2 OTDZC2ZT Strong Biomarker [107]
ATXN10 OTKRDUNN Strong Biomarker [108]
ATXN7L3B OTUYOYAR Strong Biomarker [32]
BRAT1 OT5ABVYX Strong Genetic Variation [109]
CAMTA1 OTAN1S5B Strong Genetic Variation [110]
CBLL2 OTB4AD3V Strong Biomarker [111]
CBLN1 OTIXFRAG Strong Biomarker [112]
CBLN4 OTO7QW6Y Strong Biomarker [112]
CCDC6 OTXRQDYG Strong Biomarker [113]
CDH23 OTOJGQ7S Strong Genetic Variation [114]
CHCHD10 OTCDHAM6 Strong Genetic Variation [115]
CHD6 OTEHW1U2 Strong Biomarker [116]
CHP1 OTHTXN1A Strong Genetic Variation [53]
CILK1 OTWOYEYP Strong Biomarker [39]
CLN5 OTY265P6 Strong Genetic Variation [117]
CNTNAP2 OT48T2ZP Strong Biomarker [118]
COA6 OTT52V2I Strong Biomarker [119]
COQ5 OTRLXGS6 Strong Genetic Variation [120]
COX20 OTXL7EP2 Strong Genetic Variation [121]
COX8A OTU0NR39 Strong Biomarker [122]
CPLX1 OT7UIGTP Strong Biomarker [123]
CSTB OT3U0JF8 Strong Genetic Variation [124]
CTBP1 OTVYH2DH Strong Genetic Variation [125]
CUL4B OT2QX4DO Strong Genetic Variation [126]
CWF19L1 OTAMYTOW Strong Genetic Variation [127]
DAB1 OTPL9MA3 Strong Biomarker [128]
DARS2 OTVPFTBG Strong Genetic Variation [129]
DEAF1 OTCLX3ZW Strong Genetic Variation [130]
DLD OT378CU9 Strong Biomarker [131]
DLGAP4 OTNELLIN Strong Genetic Variation [18]
DNAJC19 OTLA1V91 Strong Genetic Variation [132]
DOCK3 OTF3YS2W Strong Genetic Variation [133]
DPP6 OTWW3H0K Strong Biomarker [134]
EBF3 OTB0IWLW Strong CausalMutation [135]
EIF2B1 OT4NCVY1 Strong Genetic Variation [136]
EIF2B2 OTQQMHM1 Strong Genetic Variation [137]
EIF2B4 OTTM5SX1 Strong Genetic Variation [137]
EIF2S2 OTXF0B09 Strong Genetic Variation [137]
ELF2 OTEI347F Strong Altered Expression [138]
ELOVL4 OT2M9W26 Strong Biomarker [139]
ELOVL5 OT375W1Z Strong Altered Expression [138]
ERCC4 OTFIOPG1 Strong Genetic Variation [140]
ERCC8 OT0T4WKI Strong Genetic Variation [141]
ERLIN1 OTUOOODY Strong Genetic Variation [30]
ERLIN2 OT551BVG Strong Genetic Variation [30]
FAN1 OT1LM1HZ Strong Genetic Variation [142]
FBXO32 OTUE978R Strong Altered Expression [143]
FGF9 OT2SKDGM Strong Biomarker [144]
GALT OTCATU66 Strong Biomarker [145]
GBA2 OTOZXG5D Strong Genetic Variation [146]
GCA OTAJ7ZHG Strong Genetic Variation [147]
GDAP2 OTIV1WSL Strong Genetic Variation [148]
GNAL OTESDTEU Strong Genetic Variation [103]
GOLGA2 OT5S9KYM Strong Biomarker [149]
GOSR2 OTYHIYN2 Strong Genetic Variation [150]
HOMER1 OTWFD3SI Strong Biomarker [151]
HOMER3 OTQ6D9X1 Strong Biomarker [152]
IFRD1 OT4SQMLQ Strong Genetic Variation [153]
IGFALS OTTWCZYM Strong Genetic Variation [154]
IGLON5 OTB94PY2 Strong Biomarker [134]
IREB2 OT747D24 Strong Biomarker [155]
ITM2B OTMXEPXB Strong Genetic Variation [156]
KIF1C OTKYLP1Q Strong Biomarker [157]
LGI1 OTPS77HO Strong Biomarker [158]
LIG1 OTEEQS43 Strong Biomarker [159]
LIG3 OT48SKET Strong Altered Expression [160]
LMNB1 OT100T3P Strong Genetic Variation [161]
LMNB2 OTXRDUOS Strong Genetic Variation [162]
MEF2B OT880SE6 Strong Genetic Variation [163]
MID1 OTWN1PGU Strong Altered Expression [164]
MINDY3 OT6YZPWC Strong Biomarker [102]
MRE11 OTGU8TZM Strong Genetic Variation [165]
MSTO1 OT37XCNP Strong Genetic Variation [166]
MTCL1 OTY9ZKHE Strong Biomarker [167]
MTO1 OT7HCZ1D Strong Genetic Variation [168]
MTSS1 OT5DTDO2 Strong Genetic Variation [169]
MUL1 OT2JC9YR Strong Biomarker [111]
NCDN OT5CE7LO Strong Biomarker [151]
ND4 OT4RQVAA Strong Genetic Variation [170]
NKX2-1 OTCMEJTA Strong Genetic Variation [171]
NOP56 OTT67SRZ Strong Genetic Variation [172]
NPC1 OTRIPICX Strong Biomarker [167]
NUFIP2 OTZBZ224 Strong Biomarker [25]
NUP93 OT4J2VAL Strong Genetic Variation [173]
PANK1 OT2CZVRT Strong Biomarker [174]
PCDH12 OT2VANLI Strong Genetic Variation [175]
PDHA1 OTGEU8IK Strong Genetic Variation [176]
PEX10 OTOCZCFA Strong Genetic Variation [177]
PLA2G6 OT5FL0WU Strong Genetic Variation [178]
PLEKHG2 OTMGR6I6 Strong Genetic Variation [179]
PLEKHG4 OT3RBPFL Strong Genetic Variation [180]
PLS3 OTYBM4PK Strong Biomarker [53]
PMPCA OT5X1G9Q Strong Genetic Variation [181]
POLR3A OT5MSK10 Strong Genetic Variation [182]
POLR3B OT3FS9MB Strong Biomarker [167]
PPP2R2B OTSFVC82 Strong Genetic Variation [183]
PRICKLE1 OT9HHEM9 Strong Genetic Variation [184]
PRND OTH4EEMI Strong Biomarker [185]
PRUNE2 OTGW2974 Strong Genetic Variation [186]
PUM1 OTTMWP8L Strong Genetic Variation [187]
RELN OTLKMW1O Strong Biomarker [128]
RFC1 OT3L5PK3 Strong Genetic Variation [188]
RFX3 OTE0EI8Z Strong Genetic Variation [189]
RNASE2 OT8Z4FNE Strong Biomarker [190]
RNF138 OTPU0CO4 Strong Altered Expression [191]
RNF216 OTR1XEZ3 Strong Genetic Variation [192]
RPS4X OTIH80EK Strong Genetic Variation [88]
RUBCN OTF1UIZC Strong Biomarker [193]
SAMD9 OTDG48P0 Strong Biomarker [194]
SAMD9L OTKEJUCI Strong Genetic Variation [194]
SCYL1 OTQ0IN7P Strong Genetic Variation [195]
SEL1L OTC0FB7T Strong Genetic Variation [196]
SEZ6L2 OTUIKN2I Strong Biomarker [197]
SIL1 OTDI85I5 Strong Biomarker [198]
SLC25A46 OTFEV9SV Strong Biomarker [199]
SPAST OTIF3AJI Strong Genetic Variation [200]
SPG11 OTZ7LJX4 Strong Biomarker [201]
STUB1 OTSUYI9A Strong Biomarker [202]
STXBP1 OTRYA8C3 Strong Biomarker [203]
SUN2 OT2IQJUC Strong Biomarker [204]
SURF1 OTAINRSS Strong Genetic Variation [205]
SYNE1 OTSBSLUH Strong Biomarker [206]
SYNM OTOI8TRJ Strong Biomarker [207]
TBC1D24 OTKZUSMD Strong Genetic Variation [208]
TBP OT6C0S52 Strong Genetic Variation [209]
THG1L OTUK054V Strong Genetic Variation [210]
TINF2 OT861N2N Strong Genetic Variation [211]
TMEM240 OTWOP87P Strong Genetic Variation [212]
TMEM30A OTR6N5J2 Strong Biomarker [213]
TMEM67 OTME92T5 Strong CausalMutation [214]
TP53INP2 OT0GTBXO Strong Genetic Variation [215]
TRIO OT71X1AK Strong Genetic Variation [216]
TSFM OTP6OKPJ Strong Genetic Variation [217]
TSHZ1 OTYQ9ECW Strong Biomarker [218]
TTBK2 OT90YSM5 Strong Biomarker [219]
TTC19 OTQ0QH1P Strong Genetic Variation [220]
ATCAY OTSIAM08 Definitive Autosomal recessive [91]
PIK3R5 OT4LNXJU Definitive Genetic Variation [221]
------------------------------------------------------------------------------------
⏷ Show the Full List of 169 DOT(s)

References

1 Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations.Neurogenetics. 2016 Jan;17(1):11-6. doi: 10.1007/s10048-015-0460-2. Epub 2015 Sep 22.
2 The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.Genet Med. 2017 Sep;19(9):1040-1048. doi: 10.1038/gim.2016.224. Epub 2017 Mar 2.
3 Protein kinase C activity is a protective modifier of Purkinje neuron degeneration in cerebellar ataxia.Hum Mol Genet. 2018 Apr 15;27(8):1396-1410. doi: 10.1093/hmg/ddy050.
4 Genetic and clinical analyses of spinocerebellar ataxia type 8 in mainland China.J Neurol. 2019 Dec;266(12):2979-2986. doi: 10.1007/s00415-019-09519-2. Epub 2019 Aug 30.
5 Childhood-onset autosomal recessive ataxias: a cross-sectional study from Turkey.Neurogenetics. 2020 Jan;21(1):59-66. doi: 10.1007/s10048-019-00597-y. Epub 2019 Nov 19.
6 Wide spectrum of congenital anomalies including choanal atresia, malformed extremities, and brain and spinal malformations in a girl with a de novo 5.6-Mb deletion of 13q12.11-13q12.13.Am J Med Genet A. 2014 Jul;164A(7):1734-43. doi: 10.1002/ajmg.a.36391. Epub 2014 May 7.
7 Studying TDP1 Function in DNA Repair.Methods Mol Biol. 2018;1703:173-181. doi: 10.1007/978-1-4939-7459-7_13.
8 Novel 2-methylimidazolium salts: Synthesis, characterization, molecular docking, and carbonic anhydrase and acetylcholinesterase inhibitory properties.Bioorg Chem. 2020 Jan;94:103468. doi: 10.1016/j.bioorg.2019.103468. Epub 2019 Nov 23.
9 Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1.JAMA Neurol. 2018 Apr 1;75(4):495-502. doi: 10.1001/jamaneurol.2017.4373.
10 -III spectrin underpins ankyrin R function in Purkinje cell dendritic trees: protein complex critical for sodium channel activity is impaired by SCA5-associated mutations.Hum Mol Genet. 2014 Jul 15;23(14):3875-82. doi: 10.1093/hmg/ddu103. Epub 2014 Mar 6.
11 Migraine genetics: an update.Curr Pain Headache Rep. 2005 Jun;9(3):213-20. doi: 10.1007/s11916-005-0065-9.
12 Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. Am J Hum Genet. 2019 Apr 4;104(4):701-708. doi: 10.1016/j.ajhg.2019.02.002. Epub 2019 Mar 14.
13 C9orf72 and ATXN2 repeat expansions coexist in a family with ataxia, dementia, and parkinsonism.Mov Disord. 2017 Jan;32(1):158-162. doi: 10.1002/mds.26841. Epub 2016 Nov 7.
14 The neuropsychiatric phenotype in CACNA1A mutations: a retrospective single center study and review of the literature.Eur J Neurol. 2019 Jan;26(1):66-e7. doi: 10.1111/ene.13765. Epub 2018 Sep 3.
15 Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G Mutations.Pediatr Neurol. 2020 Mar;104:40-45. doi: 10.1016/j.pediatrneurol.2019.09.005. Epub 2019 Oct 19.
16 Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy.Ann Clin Transl Neurol. 2019 Aug;6(8):1395-1406. doi: 10.1002/acn3.50824. Epub 2019 Jul 11.
17 Two novel homozygous mutations of CAPN1 in Chinese patients with hereditary spastic paraplegia and literatures review.Orphanet J Rare Dis. 2019 Apr 25;14(1):83. doi: 10.1186/s13023-019-1053-1.
18 Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia.Hum Mol Genet. 2014 Dec 1;23(23):6163-76. doi: 10.1093/hmg/ddu337. Epub 2014 Jul 1.
19 SCA27 caused by a chromosome translocation: further delineation of the phenotype.Neurogenetics. 2009 Oct;10(4):371-4. doi: 10.1007/s10048-009-0197-x. Epub 2009 May 27.
20 Formation and thermodynamic stability of intermolecular (R*R*Y) DNA triplex in GAA/TTC repeats associated with Freidreich's ataxia.J Biomol Struct Dyn. 2002 Feb;19(4):691-9. doi: 10.1080/07391102.2002.10506775.
21 Anti-glutamate Dehydrogenase Antibody Positive Cerebellar Ataxia and Stiff Person Syndrome Responding to Dual Treatment with Steroids and Intravenous Immunoglobulin: A Case Presentation and Literature Review.Cureus. 2019 Jun 6;11(6):e4851. doi: 10.7759/cureus.4851.
22 Anti-glutamic acid decarboxylase (GAD) positive cerebellar Ataxia with transitioning to progressive encephalomyelitis with rigidity and myoclonus (PERM), responsive to immunotherapy: A case report and review of literature.J Neuroimmunol. 2019 Jul 15;332:135-137. doi: 10.1016/j.jneuroim.2019.04.003. Epub 2019 Apr 6.
23 Mutations in GALC cause late-onset Krabbe disease with predominant cerebellar ataxia.Neurogenetics. 2016 Apr;17(2):137-41. doi: 10.1007/s10048-016-0476-2. Epub 2016 Feb 26.
24 Gap junctions in inherited human disorders of the central nervous system.Biochim Biophys Acta. 2012 Aug;1818(8):2030-47. doi: 10.1016/j.bbamem.2011.08.015. Epub 2011 Aug 16.
25 Acute Ethanol Produces Ataxia and Induces Fmr1 Expression via Histone Modifications in the Rat Cerebellum.Alcohol Clin Exp Res. 2019 Jun;43(6):1191-1198. doi: 10.1111/acer.14044. Epub 2019 May 14.
26 Homozygous hydroxymethylbilane synthase knock-in mice provide pathogenic insights into the severe neurological impairments present in human homozygous dominant acute intermittent porphyria.Hum Mol Genet. 2019 Jun 1;28(11):1755-1767. doi: 10.1093/hmg/ddz003.
27 Autonomous Purkinje cell axonal dystrophy causes ataxia in peroxisomal multifunctional protein-2 deficiency.Brain Pathol. 2018 Sep;28(5):631-643. doi: 10.1111/bpa.12586. Epub 2018 Feb 21.
28 Inhibition of Hsp27 radiosensitizes head-and-neck cancer by modulating deoxyribonucleic acid repair.Int J Radiat Oncol Biol Phys. 2013 Sep 1;87(1):168-75. doi: 10.1016/j.ijrobp.2013.05.028. Epub 2013 Jul 9.
29 Huntington disease-like 2 (HDL2) in Venezuela: frequency and ethnic origin.J Hum Genet. 2013 Jan;58(1):3-6. doi: 10.1038/jhg.2012.111. Epub 2012 Sep 13.
30 Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia.Nat Commun. 2019 Oct 21;10(1):4790. doi: 10.1038/s41467-019-12620-9.
31 Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K(+) channel properties.Ann Neurol. 2017 May;81(5):677-689. doi: 10.1002/ana.24929.
32 Deletion of chromosome 12q21 affecting KCNC2 and ATXN7L3B in a family with neurodevelopmental delay and ataxia. J Neurol Neurosurg Psychiatry. 2013 Nov;84(11):1255-7. doi: 10.1136/jnnp-2012-304555. Epub 2013 Mar 9.
33 Spinocerebellar ataxia type 13 is an uncommon SCA subtype in the Chinese Han population.Int J Neurosci. 2013 Jul;123(7):450-3. doi: 10.3109/00207454.2013.763254. Epub 2013 Feb 11.
34 Novel SCA19/22-associated KCND3 mutations disrupt human K(V) 4.3 protein biosynthesis and channel gating.Hum Mutat. 2019 Nov;40(11):2088-2107. doi: 10.1002/humu.23865. Epub 2019 Aug 17.
35 Novel Homozygous KCNJ10 Mutation in a Patient with Non-syndromic Early-Onset Cerebellar Ataxia.Cerebellum. 2018 Aug;17(4):499-503. doi: 10.1007/s12311-018-0924-7.
36 Novel truncated isoform of SK3 potassium channel is a potent dominant-negative regulator of SK currents: implications in schizophrenia.Mol Psychiatry. 2003 May;8(5):524-35, 460. doi: 10.1038/sj.mp.4001271.
37 Autoantibodies from patients with idiopathic ataxia bind to M-phase phosphoprotein-1 (MPP1).J Investig Med. 2000 Jan;48(1):28-39.
38 Anti-MAG associated cerebellar ataxia and response to rituximab.J Neurol. 2018 Jan;265(1):115-118. doi: 10.1007/s00415-017-8675-9. Epub 2017 Nov 20.
39 Evidence That Sedative Effects of Benzodiazepines Involve Unexpected GABA(A) Receptor Subtypes: Quantitative Observation Studies in Rhesus Monkeys.J Pharmacol Exp Ther. 2018 Jul;366(1):145-157. doi: 10.1124/jpet.118.249250. Epub 2018 May 2.
40 MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders.Brain Dev. 2012 Jun;34(6):487-95. doi: 10.1016/j.braindev.2011.09.002. Epub 2011 Oct 6.
41 Mevalonate kinase deficiency associated with ataxia and retinitis pigmentosa in two brothers with MVK gene mutations.Ophthalmic Genet. 2017 Jul-Aug;38(4):340-344. doi: 10.1080/13816810.2016.1227459. Epub 2017 Jan 17.
42 Generation of optic atrophy 1 patient-derived induced pluripotent stem cells (iPS-OPA1-BEHR) for disease modeling of complex optic atrophy syndromes (Behr syndrome).Stem Cell Res. 2016 Sep;17(2):426-429. doi: 10.1016/j.scr.2016.09.012. Epub 2016 Sep 17.
43 Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxia.Eur J Hum Genet. 1999 Jul;7(5):541-8. doi: 10.1038/sj.ejhg.5200320.
44 Protein kinase N1 critically regulates cerebellar development and long-term function.J Clin Invest. 2018 May 1;128(5):2076-2088. doi: 10.1172/JCI96165. Epub 2018 Apr 16.
45 ER responses play a key role in Swiss-Cheese/Neuropathy Target Esterase-associated neurodegeneration.Neurobiol Dis. 2019 Oct;130:104520. doi: 10.1016/j.nbd.2019.104520. Epub 2019 Jun 22.
46 A novel PSEN1 mutation in a patient with sporadic early-onset Alzheimer's disease and prominent cerebellar ataxia.J Alzheimers Dis. 2014;41(3):709-14. doi: 10.3233/JAD-140081.
47 Regulator of G protein signaling 6 (RGS6) protein ensures coordination of motor movement by modulating GABAB receptor signaling.J Biol Chem. 2012 Feb 10;287(7):4972-81. doi: 10.1074/jbc.M111.297218. Epub 2011 Dec 16.
48 Insights into pathophysiology and therapy from a mouse model of Dravet syndrome.Epilepsia. 2011 Apr;52 Suppl 2(Suppl 2):59-61. doi: 10.1111/j.1528-1167.2011.03004.x.
49 Mutations in the Scn8a DIIS4 voltage sensor reveal new distinctions among hypomorphic and null Na(v) 1.6 sodium channels.Genes Brain Behav. 2020 Apr;19(4):e12612. doi: 10.1111/gbb.12612. Epub 2019 Oct 28.
50 Homozygous contiguous gene deletion of 13q12 causing LGMD2C and ARSACS in the same patient.Muscle Nerve. 2009 Mar;39(3):396-9. doi: 10.1002/mus.21222.
51 Arundic Acid Increases Expression and Function of Astrocytic Glutamate Transporter EAAT1 Via the ERK, Akt, and NF-B Pathways.Mol Neurobiol. 2018 Jun;55(6):5031-5046. doi: 10.1007/s12035-017-0709-x. Epub 2017 Aug 15.
52 Clinical reasoning: novel GLUT1-DS mutation: refractory seizures and ataxia.Neurology. 2015 Apr 14;84(15):e111-4. doi: 10.1212/WNL.0000000000001467.
53 PLS3 Overexpression Delays Ataxia in Chp1 Mutant Mice.Front Neurosci. 2019 Sep 19;13:993. doi: 10.3389/fnins.2019.00993. eCollection 2019.
54 Normal and cancer-prone human cells respond differently to extremely low frequency magnetic fields.FEBS Lett. 2001 Jan 5;487(3):397-403. doi: 10.1016/s0014-5793(00)02376-0.
55 Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23).Cerebellum. 2019 Oct;18(5):972-975. doi: 10.1007/s12311-019-01069-7.
56 Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease). Hum Mutat. 2013 May;34(5):706-13. doi: 10.1002/humu.22292. Epub 2013 Mar 11.
57 Comprehensive systematic review summary: Treatment of cerebellar motor dysfunction and ataxia: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology.Neurology. 2018 Mar 6;90(10):464-471. doi: 10.1212/WNL.0000000000005055. Epub 2018 Feb 9.
58 Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy.Hum Mol Genet. 2018 Jun 1;27(11):1892-1904. doi: 10.1093/hmg/ddy096.
59 The Machado-Joseph disease-associated mutant form of ataxin-3 regulates parkin ubiquitination and stability.Hum Mol Genet. 2011 Jan 1;20(1):141-54. doi: 10.1093/hmg/ddq452. Epub 2010 Oct 11.
60 Familial dyskinesia and facial myokymia (FDFM): a novel movement disorder.Ann Neurol. 2001 Apr;49(4):486-92.
61 From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with PNKP gene mutations.Am J Med Genet A. 2019 Nov;179(11):2277-2283. doi: 10.1002/ajmg.a.61339. Epub 2019 Aug 22.
62 Whole-genome sequencing identifies a novel ABCB7 gene mutation for X-linked congenital cerebellar ataxia in a large family of Mongolian ancestry.Eur J Hum Genet. 2016 Apr;24(4):550-5. doi: 10.1038/ejhg.2015.139. Epub 2015 Aug 5.
63 Ataxia and dysarthria due to an ABCA2 variant: Extension of the phenotypic spectrum.Parkinsonism Relat Disord. 2019 Jul;64:328-331. doi: 10.1016/j.parkreldis.2019.04.017. Epub 2019 Apr 25.
64 Unmasking adrenoleukodystrophy in a cohort of cerebellar ataxia.PLoS One. 2017 May 8;12(5):e0177296. doi: 10.1371/journal.pone.0177296. eCollection 2017.
65 The juvenile myoclonic epilepsy mutant of the calcium channel (4) subunit displays normal nuclear targeting in nerve and muscle cells.Channels (Austin). 2014;8(4):334-43. doi: 10.4161/chan.29322.
66 Non-type I cystinuria associated with mental retardation and ataxia in a Korean boy with a new missence mutation(G173R) in the SLC7A9 gene.J Korean Med Sci. 2010 Jan;25(1):172-5. doi: 10.3346/jkms.2010.25.1.172. Epub 2009 Dec 26.
67 Successful Treatment of Electrographic Status Epilepticus of Sleep With Felbamate in a Patient With SLC9A6 Mutation.Pediatr Neurol. 2015 Dec;53(6):527-31. doi: 10.1016/j.pediatrneurol.2015.07.007. Epub 2015 Jul 22.
68 A novel mutation in the endosomal Na+/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES).Epilepsy Res. 2014 May;108(4):811-5. doi: 10.1016/j.eplepsyres.2014.02.009. Epub 2014 Feb 19.
69 Expanding the Phenotype: Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements and Lactic Acidosis, With or Without Seizures (NEMMLAS) due to WARS2 Biallelic Variants, Encoding Mitochondrial Tryptophanyl-tRNA Synthase.J Child Neurol. 2019 Oct;34(12):778-781. doi: 10.1177/0883073819854604. Epub 2019 Jul 8.
70 Assignment of human erythroid delta-aminolevulinate synthase (ALAS2) to a distal subregion of band Xp11.21 by PCR analysis of somatic cell hybrids containing X; autosome translocations.Genomics. 1992 May;13(1):211-2. doi: 10.1016/0888-7543(92)90223-f.
71 Clinical and genetic analysis of Taiwanese patients with hereditary spastic paraplegia type 5.Eur J Neurol. 2015 Jan;22(1):211-4. doi: 10.1111/ene.12407. Epub 2014 Mar 18.
72 Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans. PLoS Biol. 2012;10(3):e1001288. doi: 10.1371/journal.pbio.1001288. Epub 2012 Mar 20.
73 Discrepancy between perfusion- and diffusion-weighted images in ischemic stroke: A case report.Medicine (Baltimore). 2018 Dec;97(52):e13894. doi: 10.1097/MD.0000000000013894.
74 Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy.Int J Mol Sci. 2018 Feb 22;19(2):619. doi: 10.3390/ijms19020619.
75 A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.Brain. 2010 Nov;133(11):3210-20. doi: 10.1093/brain/awq261. Epub 2010 Sep 17.
76 Epilepsy, cerebral calcifications, and gluten-related disorders: Are anti-transglutaminase 6 antibodies the missing link?.Seizure. 2019 Dec;73:17-20. doi: 10.1016/j.seizure.2019.10.012. Epub 2019 Oct 16.
77 A Postural Tremor Highly Responsive to Transcranial Cerebello-Cerebral DCS in ARCA3.Front Neurol. 2017 Mar 3;8:71. doi: 10.3389/fneur.2017.00071. eCollection 2017.
78 Ataxia is the major neuropathological finding in arylsulfatase G-deficient mice: similarities and dissimilarities to Sanfilippo disease (mucopolysaccharidosis type III).Hum Mol Genet. 2015 Apr 1;24(7):1856-68. doi: 10.1093/hmg/ddu603. Epub 2014 Dec 1.
79 Treadmill training increases the motor activity and neuron survival of the cerebellum in a mouse model of spinocerebellar ataxia type 1.Kaohsiung J Med Sci. 2019 Nov;35(11):679-685. doi: 10.1002/kjm2.12106. Epub 2019 Jul 4.
80 Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers: A case series and literature review.Parkinsonism Relat Disord. 2019 Nov;68:8-16. doi: 10.1016/j.parkreldis.2019.09.015. Epub 2019 Sep 28.
81 Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features.BMC Med Genet. 2017 Dec 6;18(1):144. doi: 10.1186/s12881-017-0504-6.
82 Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathy.Parkinsonism Relat Disord. 2019 Jun;63:66-72. doi: 10.1016/j.parkreldis.2019.02.045. Epub 2019 Mar 1.
83 Identification and characterization of novel PDYN mutations in dominant cerebellar ataxia cases.J Neurol. 2013 Jul;260(7):1807-12. doi: 10.1007/s00415-013-6882-6. Epub 2013 Mar 8.
84 Disruption of PPT2 in mice causes an unusual lysosomal storage disorder with neurovisceral features.Proc Natl Acad Sci U S A. 2003 Oct 14;100(21):12325-30. doi: 10.1073/pnas.2033229100. Epub 2003 Oct 3.
85 A novel homozygous SACS mutation identified by whole exome sequencing-genotype phenotype correlations of all published cases.J Mol Neurosci. 2020 Jan;70(1):131-141. doi: 10.1007/s12031-019-01410-z. Epub 2019 Nov 7.
86 Paediatric motor phenotypes in early-onset ataxia, developmental coordination disorder, and central hypotonia.Dev Med Child Neurol. 2020 Jan;62(1):75-82. doi: 10.1111/dmcn.14355. Epub 2019 Sep 17.
87 Cerebellar ataxia disease-associated Snx14 promotes lipid droplet growth at ER-droplet contacts.J Cell Biol. 2019 Apr 1;218(4):1335-1351. doi: 10.1083/jcb.201808133. Epub 2019 Feb 14.
88 Heterozygous Missense Pathogenic Variants Within the Second Spectrin Repeat of SPTBN2 Lead to Infantile-Onset Cerebellar Ataxia.J Child Neurol. 2020 Feb;35(2):106-110. doi: 10.1177/0883073819878917. Epub 2019 Oct 16.
89 Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity.Neurobiol Dis. 2019 Apr;124:14-28. doi: 10.1016/j.nbd.2018.10.018. Epub 2018 Oct 30.
90 Relapsing encephalopathy with cerebellar ataxia are caused by variants involving p.Arg756 in ATP1A3.Eur J Paediatr Neurol. 2019 May;23(3):448-455. doi: 10.1016/j.ejpn.2019.02.004. Epub 2019 Feb 22.
91 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
92 Atypical presentation of Costeff syndrome-severe psychomotor involvement and electrical status epilepticus during slow wave sleep.Eur J Paediatr Neurol. 2015 Nov;19(6):733-6. doi: 10.1016/j.ejpn.2015.06.006. Epub 2015 Jul 9.
93 Rpl27a mutation in the sooty foot ataxia mouse phenocopies high p53 mouse models.J Pathol. 2011 Aug;224(4):540-52. doi: 10.1002/path.2891. Epub 2011 Jun 14.
94 Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy.Eur J Neurol. 2019 Jan;26(1):80-86. doi: 10.1111/ene.13768. Epub 2018 Sep 3.
95 Editing-defective tRNA synthetase causes protein misfolding and neurodegeneration.Nature. 2006 Sep 7;443(7107):50-5. doi: 10.1038/nature05096. Epub 2006 Aug 13.
96 Alanyl-tRNA Synthetase 2 (AARS2)-Related Ataxia Without Leukoencephalopathy.Cerebellum. 2020 Feb;19(1):154-160. doi: 10.1007/s12311-019-01080-y.
97 Alkaline Ceramidase 3 Deficiency Results in Purkinje Cell Degeneration and Cerebellar Ataxia Due to Dyshomeostasis of Sphingolipids in the Brain.PLoS Genet. 2015 Oct 16;11(10):e1005591. doi: 10.1371/journal.pgen.1005591. eCollection 2015 Oct.
98 Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder.Eur J Hum Genet. 2019 Apr;27(4):594-602. doi: 10.1038/s41431-018-0321-1. Epub 2019 Jan 18.
99 Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy. Eur J Hum Genet. 2019 Sep;27(9):1419-1426. doi: 10.1038/s41431-019-0400-y. Epub 2019 Apr 11.
100 Clinical spectrum of AIFM1-associated disease in an Irish family, from mild neuropathy to severe cerebellar ataxia with colour blindness.J Peripher Nerv Syst. 2019 Dec;24(4):348-353. doi: 10.1111/jns.12348. Epub 2019 Oct 10.
101 Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment.J Hum Genet. 2018 Sep;63(9):1009-1013. doi: 10.1038/s10038-018-0477-0. Epub 2018 Jun 18.
102 Abnormal cerebellar development and ataxia in CARP VIII morphant zebrafish.Hum Mol Genet. 2013 Feb 1;22(3):417-32. doi: 10.1093/hmg/dds438. Epub 2012 Oct 18.
103 Diagnosis and treatment of pediatric onset isolated dystonia.Eur J Paediatr Neurol. 2018 Mar;22(2):238-244. doi: 10.1016/j.ejpn.2018.01.006. Epub 2018 Jan 17.
104 Anti-ARHGAP26 Autoantibodies Are Associated With Isolated Cognitive Impairment.Front Neurol. 2018 Aug 10;9:656. doi: 10.3389/fneur.2018.00656. eCollection 2018.
105 Clinical and ultrastructural findings in an ataxic variant of Kufor-Rakeb syndrome.Folia Neuropathol. 2019;57(3):285-294. doi: 10.5114/fn.2019.88459.
106 Survival strategies for mouse cerebellar Purkinje neurons lacking PMCA2.Neurosci Lett. 2018 Jan 10;663:25-28. doi: 10.1016/j.neulet.2017.09.045.
107 ATP8A2-related disorders as recessive cerebellar ataxia.J Neurol. 2020 Jan;267(1):203-213. doi: 10.1007/s00415-019-09579-4. Epub 2019 Oct 14.
108 The occurrence of spinocerebellar ataxias caused by dynamic mutations in Polish patients.Neurol Neurochir Pol. 2010 May-Jun;44(3):238-45. doi: 10.1016/s0028-3843(14)60037-2.
109 Inner retinal dystrophy in a patient with biallelic sequence variants in BRAT1.Ophthalmic Genet. 2017 Dec;38(6):559-561. doi: 10.1080/13816810.2017.1290118. Epub 2017 Mar 2.
110 Neuropsychological and neuroimaging phenotype induced by a CAMTA1 mutation.Brain Dev. 2014 Sep;36(8):711-5. doi: 10.1016/j.braindev.2013.09.008. Epub 2013 Oct 18.
111 RNF216 Regulates the Migration of Immortalized GnRH Neurons by Suppressing Beclin1-Mediated Autophagy.Front Endocrinol (Lausanne). 2019 Jan 24;10:12. doi: 10.3389/fendo.2019.00012. eCollection 2019.
112 Glycosylation of Cblns attenuates their receptor binding.Brain Res. 2018 Sep 1;1694:129-139. doi: 10.1016/j.brainres.2018.05.022. Epub 2018 May 18.
113 Involvement of H4(D10S170) protein in ATM-dependent response to DNA damage.Oncogene. 2007 Sep 13;26(42):6167-75. doi: 10.1038/sj.onc.1210446. Epub 2007 Apr 9.
114 A V1143F mutation in the neuronal-enriched isoform 2 of the PMCA pump is linked with ataxia.Neurobiol Dis. 2018 Jul;115:157-166. doi: 10.1016/j.nbd.2018.04.009. Epub 2018 Apr 12.
115 Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients.Neurobiol Aging. 2014 Dec;35(12):2884.e1-2884.e4. doi: 10.1016/j.neurobiolaging.2014.07.022. Epub 2014 Jul 24.
116 Deletion of the Chd6 exon 12 affects motor coordination.Mamm Genome. 2010 Apr;21(3-4):130-42. doi: 10.1007/s00335-010-9248-8. Epub 2010 Jan 29.
117 Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations.J Neurol. 2015 Jan;262(1):173-8. doi: 10.1007/s00415-014-7553-y. Epub 2014 Oct 31.
118 Expanding spectrum of contactin-associated protein 2 (CASPR2) autoimmunity-syndrome of parkinsonism and ataxia.Neurol Sci. 2018 Mar;39(3):455-460. doi: 10.1007/s10072-017-3222-0. Epub 2017 Dec 20.
119 Human mitochondrial cytochrome c oxidase assembly factor COX18 acts transiently as a membrane insertase within the subunit 2 maturation module.J Biol Chem. 2017 May 12;292(19):7774-7783. doi: 10.1074/jbc.M117.778514. Epub 2017 Mar 22.
120 A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency.Hum Mutat. 2018 Jan;39(1):69-79. doi: 10.1002/humu.23345. Epub 2017 Nov 8.
121 Observation of novel COX20 mutations related to autosomal recessive axonal neuropathy and static encephalopathy.Hum Genet. 2019 Jul;138(7):749-756. doi: 10.1007/s00439-019-02026-4. Epub 2019 May 11.
122 The cerebellum and cognition.Neurosci Lett. 2019 Jan 1;688:62-75. doi: 10.1016/j.neulet.2018.07.005. Epub 2018 Jul 8.
123 Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID. Eur J Hum Genet. 2017 Jun;25(7):889-893. doi: 10.1038/ejhg.2017.52. Epub 2017 Apr 19.
124 GOSR2: a progressive myoclonus epilepsy gene.Epileptic Disord. 2016 Sep 1;18(S2):111-114. doi: 10.1684/epd.2016.0848.
125 Reliability and discriminant validity of ataxia rating scales in early onset ataxia.Dev Med Child Neurol. 2017 Apr;59(4):427-432. doi: 10.1111/dmcn.13291. Epub 2016 Oct 21.
126 Deletion of the CUL4B gene in a boy with mental retardation, minor facial anomalies, short stature, hypogonadism, and ataxia.Am J Med Genet A. 2010 Jan;152A(1):175-80. doi: 10.1002/ajmg.a.33152.
127 Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy.Am J Med Genet A. 2016 Jun;170(6):1502-9. doi: 10.1002/ajmg.a.37632. Epub 2016 Mar 26.
128 Developmental abnormality contributes to cortex-dependent motor impairments and higher intracortical current requirement in the reeler homozygous mutants.Brain Struct Funct. 2018 Jul;223(6):2575-2587. doi: 10.1007/s00429-018-1647-8. Epub 2018 Mar 13.
129 Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model.Brain. 2013 Oct;136(Pt 10):3106-18. doi: 10.1093/brain/awt236. Epub 2013 Sep 11.
130 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.Hum Mutat. 2017 Dec;38(12):1774-1785. doi: 10.1002/humu.23339. Epub 2017 Sep 23.
131 Lipoamide dehydrogenase: rapid heat inactivation in platelets of patients with recessively inherited ataxia.Neurology. 1981 Feb;31(2):199-202. doi: 10.1212/wnl.31.2.199.
132 Underappreciated Roles of the Translocase of the Outer and Inner Mitochondrial Membrane Protein Complexes in Human Disease.DNA Cell Biol. 2019 Jan;38(1):23-40. doi: 10.1089/dna.2018.4292. Epub 2018 Nov 27.
133 Variants in DOCK3 cause developmental delay and hypotonia. Eur J Hum Genet. 2019 Aug;27(8):1225-1234. doi: 10.1038/s41431-019-0397-2. Epub 2019 Apr 11.
134 Antibody-associated CNS syndromes without signs of inflammation in the elderly.Neurology. 2017 Oct 3;89(14):1471-1475. doi: 10.1212/WNL.0000000000004541. Epub 2017 Sep 6.
135 A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.Am J Hum Genet. 2017 Jan 5;100(1):128-137. doi: 10.1016/j.ajhg.2016.11.018. Epub 2016 Dec 22.
136 Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases.Brain. 2009 Aug;132(Pt 8):2161-9. doi: 10.1093/brain/awp171.
137 Childhood ataxia with CNS hypomyelination/vanishing white matter disease--a common leukodystrophy caused by abnormal control of protein synthesis.Mol Genet Metab. 2006 May;88(1):7-15. doi: 10.1016/j.ymgme.2005.10.019. Epub 2006 Jan 18.
138 Clinical and Functional Characterization of a Missense ELF2 Variant in a CANVAS Family.Front Genet. 2018 Mar 23;9:85. doi: 10.3389/fgene.2018.00085. eCollection 2018.
139 Prevalence and clinicoradiological features of spinocerebellar ataxia type 34 in a Japanese ataxia cohort.Parkinsonism Relat Disord. 2019 Aug;65:238-242. doi: 10.1016/j.parkreldis.2019.05.019. Epub 2019 May 13.
140 Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations.J Hum Genet. 2018 Apr;63(4):417-423. doi: 10.1038/s10038-017-0408-5. Epub 2018 Feb 5.
141 Homozygosity mapping and whole exome sequencing reveal a novel ERCC8 mutation in a Chinese consanguineous family with unique cerebellar ataxia.Clin Chim Acta. 2019 Jul;494:64-70. doi: 10.1016/j.cca.2019.03.1609. Epub 2019 Mar 12.
142 Variation in DNA Repair System Gene as an Additional Modifier of Age at Onset in Spinocerebellar Ataxia Type 3/Machado-Joseph Disease.Neuromolecular Med. 2020 Mar;22(1):133-138. doi: 10.1007/s12017-019-08572-4. Epub 2019 Oct 5.
143 Endophilin-A Deficiency Induces the Foxo3a-Fbxo32 Network in the Brain and Causes Dysregulation of Autophagy and the Ubiquitin-Proteasome System.Cell Rep. 2016 Oct 18;17(4):1071-1086. doi: 10.1016/j.celrep.2016.09.058. Epub 2016 Oct 6.
144 FGF9 knockout in GABAergic neurons induces apoptosis and inflammation via the Fas/caspase-3 pathway in the cerebellum of mice.Brain Res Bull. 2020 Jan;154:91-101. doi: 10.1016/j.brainresbull.2019.10.012. Epub 2019 Nov 11.
145 Assessment of ataxia phenotype in a new mouse model of galactose-1 phosphate uridylyltransferase (GALT) deficiency.J Inherit Metab Dis. 2017 Jan;40(1):131-137. doi: 10.1007/s10545-016-9993-2. Epub 2016 Oct 25.
146 Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46).Biochem Biophys Res Commun. 2015 Sep 11;465(1):35-40. doi: 10.1016/j.bbrc.2015.07.112. Epub 2015 Jul 26.
147 Prion disease (PrP-A117V) presenting with ataxia instead of dementia.Neurology. 1995 Nov;45(11):2042-50. doi: 10.1212/wnl.45.11.2042.
148 GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia. Brain. 2018 Sep 1;141(9):2592-2604. doi: 10.1093/brain/awy198.
149 Loss of the golgin GM130 causes Golgi disruption, Purkinje neuron loss, and ataxia in mice.Proc Natl Acad Sci U S A. 2017 Jan 10;114(2):346-351. doi: 10.1073/pnas.1608576114. Epub 2016 Dec 27.
150 Mechanisms of Neurological Dysfunction in GOSR2 Progressive Myoclonus Epilepsy, a Golgi SNAREopathy.Neuroscience. 2019 Nov 10;420:41-49. doi: 10.1016/j.neuroscience.2019.03.057. Epub 2019 Apr 4.
151 Neurochondrin Antibody Serum Positivity in Three Cases of Autoimmune Cerebellar Ataxia.Cerebellum. 2019 Dec;18(6):1137-1142. doi: 10.1007/s12311-019-01048-y.
152 Anti-Homer-3 antibody associated cerebellar ataxia: A rare case report and literature review.J Neuroimmunol. 2019 May 15;330:155-158. doi: 10.1016/j.jneuroim.2019.01.002. Epub 2019 Mar 13.
153 Identification of IFRD1 variant in a Han Chinese family with autosomal dominant hereditary spastic paraplegia associated with peripheral neuropathy and ataxia.J Hum Genet. 2018 Apr;63(4):521-524. doi: 10.1038/s10038-017-0394-7. Epub 2018 Jan 23.
154 Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes.Neurogenetics. 2019 Mar;20(1):27-38. doi: 10.1007/s10048-019-00565-6. Epub 2019 Feb 19.
155 Hereditary causes of disturbed iron homeostasis in the central nervous system.Ann N Y Acad Sci. 2004 Mar;1012:267-81. doi: 10.1196/annals.1306.022.
156 Familial Danish dementia: co-existence of Danish and Alzheimer amyloid subunits (ADan AND A{beta}) in the absence of compact plaques.J Biol Chem. 2005 Nov 4;280(44):36883-94. doi: 10.1074/jbc.M504038200. Epub 2005 Aug 9.
157 Motor protein mutations cause a new form of hereditary spastic paraplegia.Neurology. 2014 Jun 3;82(22):2007-16. doi: 10.1212/WNL.0000000000000479. Epub 2014 May 7.
158 Movement disorders with neuronal antibodies: syndromic approach, genetic parallels and pathophysiology.Brain. 2018 Jan 1;141(1):13-36. doi: 10.1093/brain/awx189.
159 Restoration of nuclear-import failure caused by triple A syndrome and oxidative stress.Biochem Biophys Res Commun. 2008 Oct 3;374(4):631-4. doi: 10.1016/j.bbrc.2008.07.088. Epub 2008 Jul 26.
160 Intrinsic mitochondrial DNA repair defects in Ataxia Telangiectasia.DNA Repair (Amst). 2014 Jan;13:22-31. doi: 10.1016/j.dnarep.2013.11.002. Epub 2013 Dec 15.
161 LMNB1-related autosomal-dominant leukodystrophy: Clinical and radiological course.Ann Neurol. 2015 Sep;78(3):412-25. doi: 10.1002/ana.24452. Epub 2015 Jul 27.
162 Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia. Hum Mol Genet. 2015 Aug 15;24(16):4483-90. doi: 10.1093/hmg/ddv171. Epub 2015 May 7.
163 Landscape of somatic mutations and clonal evolution in mantle cell lymphoma.Proc Natl Acad Sci U S A. 2013 Nov 5;110(45):18250-5. doi: 10.1073/pnas.1314608110. Epub 2013 Oct 21.
164 A hormone-dependent feedback-loop controls androgen receptor levels by limiting MID1, a novel translation enhancer and promoter of oncogenic signaling.Mol Cancer. 2014 Jun 9;13:146. doi: 10.1186/1476-4598-13-146.
165 Exome sequencing reveals a novel MRE11 mutation in a patient with progressive myoclonic ataxia.J Neurol Sci. 2014 Feb 15;337(1-2):219-23. doi: 10.1016/j.jns.2013.11.032. Epub 2013 Dec 1.
166 Whole-exome sequencing identifies rare compound heterozygous mutations in the MSTO1 gene associated with cerebellar ataxia and myopathy.Eur J Med Genet. 2020 Jan;63(1):103623. doi: 10.1016/j.ejmg.2019.01.013. Epub 2019 Jan 24.
167 A study in a Polish ataxia cohort indicates genetic heterogeneity and points to MTCL1 as a novel candidate gene.Clin Genet. 2019 Mar;95(3):415-419. doi: 10.1111/cge.13489. Epub 2019 Jan 8.
168 The genotypic and phenotypic spectrum of MTO1 deficiency.Mol Genet Metab. 2018 Jan;123(1):28-42. doi: 10.1016/j.ymgme.2017.11.003. Epub 2017 Nov 15.
169 MTSS1/Src family kinase dysregulation underlies multiple inherited ataxias.Proc Natl Acad Sci U S A. 2018 Dec 26;115(52):E12407-E12416. doi: 10.1073/pnas.1816177115. Epub 2018 Dec 7.
170 Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light.Hum Mutat. 2019 Dec;40(12):2430-2443. doi: 10.1002/humu.23885. Epub 2019 Aug 26.
171 A novel de novo mutation of the TITF1/NKX2-1 gene causing ataxia, benign hereditary chorea, hypothyroidism and a pituitary mass in a UK family and review of the literature.Cerebellum. 2014 Oct;13(5):588-95. doi: 10.1007/s12311-014-0570-7.
172 Suppression of the yeast elongation factor Spt4 ortholog reduces expanded SCA36 GGCCUG repeat aggregation and cytotoxicity.Brain Res. 2019 May 15;1711:29-40. doi: 10.1016/j.brainres.2018.12.045. Epub 2019 Jan 2.
173 Correction to: Biallelic Variants in the Nuclear Pore Complex Protein NUP93 Are Associated with Non-progressive Congenital Ataxia.Cerebellum. 2019 Jun;18(3):433-434. doi: 10.1007/s12311-019-01021-9.
174 Deep brain stimulation as a mode of treatment of early onset pantothenate kinase-associated neurodegeneration.Eur J Paediatr Neurol. 2009 Jan;13(1):61-4. doi: 10.1016/j.ejpn.2008.01.006. Epub 2008 May 6.
175 Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism.J Hum Genet. 2019 Feb;64(2):183-189. doi: 10.1038/s10038-018-0541-9. Epub 2018 Nov 20.
176 Genetic and clinical features of Chinese patients with mitochondrial ataxia identified by targeted next-generation sequencing.CNS Neurosci Ther. 2019 Jan;25(1):21-29. doi: 10.1111/cns.12972. Epub 2018 May 13.
177 Ataxia with novel compound heterozygous PEX10 mutations and a literature review of PEX10-related peroxisome biogenesis disorders.Clin Neurol Neurosurg. 2019 Feb;177:92-96. doi: 10.1016/j.clineuro.2019.01.004. Epub 2019 Jan 7.
178 Identification of a novel mutation in PLA2G6 gene and phenotypic heterogeneity analysis of PLA2G6-related neurodegeneration.Parkinsonism Relat Disord. 2019 Aug;65:159-164. doi: 10.1016/j.parkreldis.2019.04.002. Epub 2019 Apr 21.
179 Exclusion of stromelysin-1, stromelysin-2, interstitial collagenase and fibronectin genes as the mutant loci in a family with recessive epidermolysis bullosa dystrophica and a form of cerebellar ataxia.Hum Genet. 1992 Jul;89(5):503-7. doi: 10.1007/BF00219174.
180 Clinical and genetic characterization of 16q-linked autosomal dominant spinocerebellar ataxia in South Kyushu, Japan.J Hum Genet. 2009 Jul;54(7):377-81. doi: 10.1038/jhg.2009.44. Epub 2009 May 15.
181 PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia. Brain. 2015 Jun;138(Pt 6):1505-17. doi: 10.1093/brain/awv057. Epub 2015 Mar 25.
182 Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.Brain. 2017 Jun 1;140(6):1561-1578. doi: 10.1093/brain/awx095.
183 Identification of FXTAS presenting with SCA 12 like phenotype in India.Parkinsonism Relat Disord. 2014 Oct;20(10):1089-93. doi: 10.1016/j.parkreldis.2014.07.001. Epub 2014 Jul 17.
184 Sudden unexpected death with rare compound heterozygous variants in PRICKLE1.Neurogenetics. 2019 Mar;20(1):39-43. doi: 10.1007/s10048-018-0562-8. Epub 2018 Dec 18.
185 Prion-like protein Doppel expression is not modified in scrapie-infected cells and in the brains of patients with Creutzfeldt-Jakob disease.FEBS Lett. 2003 Feb 11;536(1-3):61-5. doi: 10.1016/s0014-5793(03)00012-7.
186 Odor preference and olfactory memory are impaired in Olfaxin-deficient mice.Brain Res. 2018 Jun 1;1688:81-90. doi: 10.1016/j.brainres.2018.03.025. Epub 2018 Mar 20.
187 Investigating PUM1 mutations in a Taiwanese cohort with cerebellar ataxia.Parkinsonism Relat Disord. 2019 Sep;66:220-223. doi: 10.1016/j.parkreldis.2019.08.004. Epub 2019 Aug 7.
188 Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.Nat Genet. 2019 May;51(5):920. doi: 10.1038/s41588-019-0422-y.
189 ATOH1/RFX1/RFX3 transcription factors facilitate the differentiation and characterisation of inner ear hair cell-like cells from patient-specific induced pluripotent stem cells harbouring A8344G mutation of mitochondrial DNA.Cell Death Dis. 2018 Apr 1;9(4):437. doi: 10.1038/s41419-018-0488-y.
190 Molecular cloning of the human eosinophil-derived neurotoxin: a member of the ribonuclease gene family.Proc Natl Acad Sci U S A. 1989 Jun;86(12):4460-4. doi: 10.1073/pnas.86.12.4460.
191 Ubiquitin Ligase RNF138 Promotes Episodic Ataxia Type 2-Associated Aberrant Degradation of Human Ca(v)2.1 (P/Q-Type) Calcium Channels.J Neurosci. 2017 Mar 1;37(9):2485-2503. doi: 10.1523/JNEUROSCI.3070-16.2017. Epub 2017 Feb 6.
192 RNF216 mutations as a novel cause of autosomal recessive Huntington-like disorder.Neurology. 2015 Apr 28;84(17):1760-6. doi: 10.1212/WNL.0000000000001521. Epub 2015 Apr 3.
193 Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia.Brain. 2010 Aug;133(Pt 8):2439-47. doi: 10.1093/brain/awq181.
194 Outcomes of Hematopoietic Cell Transplantation in Patients with Germline SAMD9/SAMD9L Mutations.Biol Blood Marrow Transplant. 2019 Nov;25(11):2186-2196. doi: 10.1016/j.bbmt.2019.07.007. Epub 2019 Jul 12.
195 Variant in SCYL1 gene causes aberrant splicing in a family with cerebellar ataxia, recurrent episodes of liver failure, and growth retardation.Eur J Hum Genet. 2019 Feb;27(2):263-268. doi: 10.1038/s41431-018-0268-2. Epub 2018 Sep 26.
196 A SEL1L mutation links a canine progressive early-onset cerebellar ataxia to the endoplasmic reticulum-associated protein degradation (ERAD) machinery.PLoS Genet. 2012;8(6):e1002759. doi: 10.1371/journal.pgen.1002759. Epub 2012 Jun 14.
197 Sez6l2 regulates phosphorylation of ADD and neuritogenesis.Biochem Biophys Res Commun. 2017 Dec 9;494(1-2):234-241. doi: 10.1016/j.bbrc.2017.10.047. Epub 2017 Oct 12.
198 An unexpected role for the yeast nucleotide exchange factor Sil1 as a reductant acting on the molecular chaperone BiP.Elife. 2017 Mar 3;6:e24141. doi: 10.7554/eLife.24141.
199 Loss of SLC25A46 causes neurodegeneration by affecting mitochondrial dynamics and energy production in mice.Hum Mol Genet. 2017 Oct 1;26(19):3776-3791. doi: 10.1093/hmg/ddx262.
200 Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation.Eur J Neurol. 2004 Dec;11(12):817-24. doi: 10.1111/j.1468-1331.2004.00888.x.
201 Novel Compound Heterozygous Spatacsin Mutations in a Greek Kindred with Hereditary Spastic Paraplegia SPG11 and Dementia.Neurodegener Dis. 2016;16(5-6):373-81. doi: 10.1159/000444715. Epub 2016 Jun 18.
202 Cerebellar cognitive-affective syndrome preceding ataxia associated with complex extrapyramidal features in a Turkish SCA48 family.Neurogenetics. 2020 Jan;21(1):51-58. doi: 10.1007/s10048-019-00595-0. Epub 2019 Nov 19.
203 Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome.Eur J Paediatr Neurol. 2016 Jul;20(4):661-5. doi: 10.1016/j.ejpn.2016.04.005. Epub 2016 Apr 28.
204 Recessive ataxias.Handb Clin Neurol. 2018;155:73-89. doi: 10.1016/B978-0-444-64189-2.00005-6.
205 Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency.Mitochondrion. 2016 Nov;31:84-88. doi: 10.1016/j.mito.2016.10.004. Epub 2016 Oct 15.
206 Identifying SYNE1 ataxia and extending the mutational spectrum in Korea.Parkinsonism Relat Disord. 2019 Jan;58:74-78. doi: 10.1016/j.parkreldis.2018.08.009. Epub 2018 Aug 13.
207 Targeted overexpression of human alpha-synuclein in oligodendroglia induces lesions linked to MSA-like progressive autonomic failure.Exp Neurol. 2010 Aug;224(2):459-64. doi: 10.1016/j.expneurol.2010.05.008. Epub 2010 May 21.
208 Novel TBC1D24 Mutations in a Case of Nonconvulsive Status Epilepticus.Front Neurol. 2018 Jul 31;9:623. doi: 10.3389/fneur.2018.00623. eCollection 2018.
209 Genetically modified rodent models of SCA17.J Neurosci Res. 2017 Aug;95(8):1540-1547. doi: 10.1002/jnr.23984. Epub 2016 Nov 18.
210 A mutation in the THG1L gene in a family with cerebellar ataxia and developmental delay. Neurogenetics. 2016 Oct;17(4):219-225. doi: 10.1007/s10048-016-0487-z. Epub 2016 Jun 15.
211 Ataxia and pancytopenia caused by a mutation in TINF2.Hum Genet. 2008 Dec;124(5):507-13. doi: 10.1007/s00439-008-0576-7. Epub 2008 Nov 1.
212 The movement disorder spectrum of SCA21 (ATX-TMEM240): 3 novel families and systematic review of the literature.Parkinsonism Relat Disord. 2019 May;62:215-220. doi: 10.1016/j.parkreldis.2018.11.027. Epub 2018 Nov 29.
213 Disruption of Tmem30a results in cerebellar ataxia and degeneration of Purkinje cells.Cell Death Dis. 2018 Sep 5;9(9):899. doi: 10.1038/s41419-018-0938-6.
214 Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). J Med Genet. 2009 Oct;46(10):663-70. doi: 10.1136/jmg.2009.066613. Epub 2009 Jun 8.
215 The coding region of TP53INP2, a gene expressed in the developing nervous system, is not altered in a family with autosomal recessive non-progressive infantile ataxia on chromosome 20q11-q13.Dev Dyn. 2007 Mar;236(3):843-52. doi: 10.1002/dvdy.21064.
216 TRIO gene segregation in a family with cerebellar ataxia.Neurol Neurochir Pol. 2018 Nov-Dec;52(6):743-749. doi: 10.1016/j.pjnns.2018.09.006. Epub 2018 Sep 22.
217 Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy.Eur J Hum Genet. 2016 Jan;25(1):153-156. doi: 10.1038/ejhg.2016.124. Epub 2016 Sep 28.
218 SCA2 family presenting as typical Parkinson's disease: 34 year follow up.Parkinsonism Relat Disord. 2017 Jul;40:69-72. doi: 10.1016/j.parkreldis.2017.04.003. Epub 2017 Apr 12.
219 Spinocerebellar ataxia type 11 in the Chinese Han population.Neurol Sci. 2010 Feb;31(1):107-9. doi: 10.1007/s10072-009-0129-4. Epub 2009 Sep 19.
220 A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation.J Hum Genet. 2015 Apr;60(4):187-91. doi: 10.1038/jhg.2015.7. Epub 2015 Feb 5.
221 A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia. Hum Mutat. 2012 Feb;33(2):351-4. doi: 10.1002/humu.21650. Epub 2011 Dec 8.