Details of Disease

General Information of Disease (ID: DISSMCYQ)

• Disease Name: Sensory ataxia
• Definition: Any ataxia in which the causes of the disease is a perturbation of the sensory system, leading to its dysfunction.
• Disease Hierarchy:
  DIS6F440: Ataxia
  DISSMCYQ: Sensory ataxia
• Disease Identifiers:
  MONDO ID: MONDO_0100311
  MESH ID: D001259
  UMLS CUI: C0240991
  MedGen ID: 66020
  HPO ID: HP:0010871
  SNOMED CT ID: 445458007

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 8 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
NPTX2	TTNJ5A6	moderate	Biomarker	[1]
CACNA1A	TTX4QDJ	Strong	Biomarker	[2]
CACNA2D2	TTU8P3M	Strong	Biomarker	[3]
GABRA1	TT1MPAY	Strong	Biomarker	[4]
HCN1	TTNB6UQ	Strong	Biomarker	[5]
SCN8A	TT54ERL	Strong	Biomarker	[6]
SLC2A1	TT79TKF	Strong	Biomarker	[7]
SOX2	TTCNOT6	Strong	Biomarker	[8]

This Disease Is Related to 3 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ABCB7	DT2IMBW	Strong	Biomarker	[9]
ATP7A	DT0LT17	Strong	Biomarker	[10]
CACNB4	DTV8E46	Strong	Biomarker	[11]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CYP7B1	DE36TMY	Strong	Genetic Variation	[12]

This Disease Is Related to 11 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FLVCR1	OT9XCFOC	Limited	Genetic Variation	[13]
AP3B2	OT7BFBLP	moderate	Biomarker	[14]
DARS2	OTVPFTBG	moderate	Biomarker	[1]
ARCN1	OTJ96STE	Strong	Biomarker	[15]
CP	OTM8JE4Y	Strong	Biomarker	[16]
EGR3	OTGPJIRA	Strong	Biomarker	[17]
GABRA4	OT5I7OI2	Strong	Biomarker	[17]
NPC1	OTRIPICX	Strong	Biomarker	[18]
POLG	OTDUCT04	Strong	CausalMutation	[19]
RARS2	OT3WLAD8	Strong	Genetic Variation	[20]
RNF170	OT2O6F4D	Strong	Genetic Variation	[21]

References

• [1] Epilepsy in mitochondrial disorders.Seizure. 2012 Jun;21(5):316-21. doi: 10.1016/j.seizure.2012.03.003. Epub 2012 Mar 27.
• [2] Forward genetic screen of mouse reveals dominant missense mutation in the P/Q-type voltage-dependent calcium channel, CACNA1A.Genes Brain Behav. 2007 Nov;6(8):717-27. doi: 10.1111/j.1601-183X.2007.00302.x. Epub 2007 Mar 21.
• [3] entla, a novel epileptic and ataxic Cacna2d2 mutant of the mouse.J Biol Chem. 2004 Feb 20;279(8):7322-30. doi: 10.1074/jbc.M308778200. Epub 2003 Dec 2.
• [4] Selective antagonism of the ataxic effects of zolpidem and triazolam by the GABAA/alpha1-preferring antagonist beta-CCt in squirrel monkeys.Psychopharmacology (Berl). 2002 Nov;164(2):151-9. doi: 10.1007/s00213-002-1189-9. Epub 2002 Sep 4.
• [5] Gabapentin treatment improves motor coordination in a mice model of progressive ataxia.Brain Res. 2009 Dec 8;1301:135-42. doi: 10.1016/j.brainres.2009.09.004. Epub 2009 Sep 9.
• [6] The ataxia3 mutation in the N-terminal cytoplasmic domain of sodium channel Na(v)1.6 disrupts intracellular trafficking.J Neurosci. 2009 Mar 4;29(9):2733-41. doi: 10.1523/JNEUROSCI.6026-08.2009.
• [7] Autosomal dominant glut-1 deficiency syndrome and familial epilepsy. Ann Neurol. 2001 Oct;50(4):476-85. doi: 10.1002/ana.1222.
• [8] Sox2 conditional mutation in mouse causes ataxic symptoms, cerebellar vermis hypoplasia, and postnatal defects of Bergmann glia.Glia. 2018 Sep;66(9):1929-1946. doi: 10.1002/glia.23448. Epub 2018 May 6.
• [9] Mitochondria in hematopoiesis and hematological diseases.Oncogene. 2006 Aug 7;25(34):4757-67. doi: 10.1038/sj.onc.1209606.
• [10] Prenatal treatment of mosaic mice (Atp7a mo-ms) mouse model for Menkes disease, with copper combined by dimethyldithiocarbamate (DMDTC).PLoS One. 2012;7(7):e40400. doi: 10.1371/journal.pone.0040400. Epub 2012 Jul 18.
• [11] Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. Am J Hum Genet. 2000 May;66(5):1531-9. doi: 10.1086/302909. Epub 2000 Apr 4.
• [12] Sensory ataxia as a prominent clinical presentation in three families with mutations in CYP7B1.J Neurol. 2014 Apr;261(4):747-51. doi: 10.1007/s00415-014-7247-5. Epub 2014 Feb 12.
• [13] Clinical and imaging characteristics of posterior column ataxia with retinitis pigmentosa with a specific FLVCR1 mutation.Ophthalmic Genet. 2018 Dec;39(6):735-740. doi: 10.1080/13816810.2018.1547913. Epub 2018 Nov 16.
• [14] Autoimmune gait disturbance accompanying adaptor protein-3B2-IgG.Neurology. 2019 Sep 3;93(10):e954-e963. doi: 10.1212/WNL.0000000000008061. Epub 2019 Aug 1.
• [15] Mutation in archain 1, a subunit of COPI coatomer complex, causes diluted coat color and Purkinje cell degeneration.PLoS Genet. 2010 May 20;6(5):e1000956. doi: 10.1371/journal.pgen.1000956.
• [16] Aceruloplasminemia, an inherited disorder of iron metabolism. Biometals. 2003 Mar;16(1):205-13. doi: 10.1023/a:1020775101654.
• [17] Egr3 stimulation of GABRA4 promoter activity as a mechanism for seizure-induced up-regulation of GABA(A) receptor alpha4 subunit expression.Proc Natl Acad Sci U S A. 2005 Aug 16;102(33):11894-9. doi: 10.1073/pnas.0501434102. Epub 2005 Aug 9.
• [18] An unusual presentation of copper metabolism disorder and a possible connection with Niemann-Pick type C.J Child Neurol. 2011 Apr;26(4):518-21. doi: 10.1177/0883073810383983. Epub 2011 Jan 27.
• [19] The adjunctive application of transcranial direct current stimulation in the management of de novo refractory epilepsia partialis continua in adolescent-onset POLG-related mitochondrial disease.Epilepsia Open. 2018 Jan 11;3(1):103-108. doi: 10.1002/epi4.12094. eCollection 2018 Mar.
• [20] Mitochondrial disease and epilepsy.Dev Med Child Neurol. 2012 May;54(5):397-406. doi: 10.1111/j.1469-8749.2011.04214.x. Epub 2012 Jan 28.
• [21] Age-dependent gait abnormalities in mice lacking the Rnf170 gene linked to human autosomal-dominant sensory ataxia. Hum Mol Genet. 2015 Dec 20;24(25):7196-206. doi: 10.1093/hmg/ddv417. Epub 2015 Oct 3.