Details of Disease

General Information of Disease (ID: DISP6X50)

• Disease Name: Pick disease
• Synonyms: lobar atrophy of the brain; Pick's disease; dementia with lobar atrophy and neuronal cytoplasmic inclusions; Pick disease of the brain; lobar atrophy of brain; dementia in Pick's disease; PICK disease of brain; Pick disease
• Definition: A rare neurodegenerative disorder leading to dementia. It is characterized by frontotemporal lobar degeneration with accumulation of tau proteins which form Pick bodies.
• Disease Hierarchy:
  DISV1JEM: Subcutaneous fat disorder
  DISUMR0A: Cerebral degeneration
  DISKYHXL: Frontotemporal dementia
  DISP6X50: Pick disease
• Disease Identifiers:
  MONDO ID: MONDO_0008243
  MESH ID: D020774
  UMLS CUI: C0236642
  OMIM ID: 172700
  MedGen ID: 116020

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 30 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
C9orf72	TTA4SHR	Limited	Biomarker	[1]
CASP2	TT12VNG	Limited	Biomarker	[2]
F11	TTDM4ZU	Limited	Biomarker	[3]
KMT5A	TTGC95K	Limited	Altered Expression	[4]
LAMC2	TTNS7H3	Limited	Altered Expression	[5]
PSEN1	TTZ3S8C	Limited	CausalMutation	[6]
KIF5A	TTCJPAH	Disputed	Genetic Variation	[7]
CIT	TT3BKTU	moderate	Biomarker	[8]
CSNK1D	TTH30UI	moderate	Biomarker	[9]
GABRB2	TTZA1NY	moderate	Genetic Variation	[10]
HNRNPA1	TTPJ9XK	moderate	Biomarker	[11]
HNRNPA2B1	TT8UPW6	moderate	Genetic Variation	[12]
ADORA1	TTK25J1	Strong	Altered Expression	[13]
APP	TTE4KHA	Strong	Genetic Variation	[14]
DYRK1A	TTSBVFO	Strong	Biomarker	[15]
FMNL1	TTW20PQ	Strong	Genetic Variation	[16]
GAP43	TTSGLN5	Strong	Biomarker	[17]
GRIA3	TT82EZV	Strong	Biomarker	[18]
HNMT	TT2B6EV	Strong	Biomarker	[19]
HTT	TTIWZ0O	Strong	Biomarker	[20]
MAP3K14	TT4LIAC	Strong	Genetic Variation	[16]
MAPK9	TT3IVG2	Strong	Biomarker	[21]
MAPT	TTXZCO0	Strong	Autosomal dominant	[22]
MSMB	TTYH1ZK	Strong	Genetic Variation	[23]
PSEN1	TTZ3S8C	Strong	Autosomal dominant	[22]
PSEN2	TTWN3F4	Strong	Genetic Variation	[24]
PTBP1	TTWMX0U	Strong	Biomarker	[25]
SQSTM1	TTOT2RY	Strong	Biomarker	[26]
TBK1	TTMP03S	Strong	Genetic Variation	[27]
TREM2	TTQRMSJ	Strong	Altered Expression	[28]

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC25A38	DTV8SWX	Limited	Biomarker	[29]
SLC25A27	DT0HW5C	moderate	Biomarker	[30]

This Disease Is Related to 76 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CEACAM4	OT0C7YUD	Limited	Biomarker	[31]
FLNC	OT3F8J6Y	Limited	Biomarker	[32]
HAP1	OT6SG0JQ	Limited	Genetic Variation	[33]
L3MBTL1	OT8M52QY	Limited	Biomarker	[4]
LAD1	OT6YGTVX	Limited	Biomarker	[34]
NEFL	OTQESJV4	Limited	Biomarker	[35]
NONO	OTN36Q6U	Limited	Biomarker	[36]
NRGN	OTVGE10W	Limited	Biomarker	[37]
PTCRA	OTQTO5QZ	Limited	Biomarker	[3]
RAB29	OTDZT6LP	Limited	Biomarker	[38]
RPS25	OTKLWED2	Limited	Biomarker	[39]
SPAG8	OTZC5XP9	Limited	Genetic Variation	[40]
TSBP1	OT5GE8IO	Limited	Biomarker	[41]
APOD	OTT77XW8	moderate	Biomarker	[42]
DCT	OTYVNTBG	moderate	Genetic Variation	[43]
DCTN1	OT5B51FJ	moderate	Genetic Variation	[44]
DPP6	OTWW3H0K	moderate	Genetic Variation	[45]
PTBP2	OTF4S7NE	moderate	Biomarker	[46]
RAN	OT2TER5M	moderate	Biomarker	[39]
RANBP2	OTFG5CVF	moderate	Genetic Variation	[43]
SH3RF1	OT7MYGYO	moderate	Biomarker	[47]
TAF15	OTNE038N	moderate	Biomarker	[48]
AAAS	OTJT9T23	Strong	Genetic Variation	[49]
APOC1	OTA58CED	Strong	Biomarker	[50]
ATF2	OTNIZPEA	Strong	Biomarker	[21]
BPIFA2	OTLFSDZD	Strong	Genetic Variation	[23]
CCNF	OTJFVU43	Strong	Genetic Variation	[51]
CFDP1	OTXY7J96	Strong	Genetic Variation	[49]
CHCHD10	OTCDHAM6	Strong	Biomarker	[52]
CHCHD2	OTL5PA3Y	Strong	Genetic Variation	[53]
CHMP2B	OTZA7RJB	Strong	Biomarker	[54]
CKB	OTUCKOTT	Strong	Altered Expression	[55]
CSDC2	OTQH3VSR	Strong	Biomarker	[56]
EIF4G2	OTEO98CR	Strong	Genetic Variation	[49]
EXT1	OTRPALJK	Strong	Biomarker	[57]
EXT2	OT8IR5QN	Strong	Biomarker	[57]
GEMIN4	OTX7402E	Strong	Genetic Variation	[49]
IGFALS	OTTWCZYM	Strong	Biomarker	[58]
INA	OT1D33T4	Strong	Biomarker	[59]
ITM2B	OTMXEPXB	Strong	Genetic Variation	[60]
MAPT	OTMTP2Z7	Strong	Autosomal dominant	[22]
MATR3	OTESJ5S7	Strong	Biomarker	[61]
NAPG	OTY4WS64	Strong	Genetic Variation	[62]
NEFH	OTMSCW5I	Strong	Biomarker	[59]
NEFM	OT8VCBNF	Strong	Biomarker	[59]
OPN1MW	OTPJ7LX4	Strong	Biomarker	[63]
OPTN	OT2UXWH9	Strong	Biomarker	[26]
PABPN1	OT3MC5SE	Strong	Genetic Variation	[64]
PCBP2	OTXCN9CG	Strong	Biomarker	[65]
PCSK1N	OT7ZRW2F	Strong	Biomarker	[66]
PFN1	OTHTGA1H	Strong	Genetic Variation	[67]
PHF1	OTW2PSIR	Strong	Genetic Variation	[68]
PRDX6	OTS8KC8A	Strong	Altered Expression	[69]
PRKAR1B	OT777OHS	Strong	Biomarker	[70]
PRRX1	OTTZK5G8	Strong	Altered Expression	[71]
PRRX2	OT8UR4AU	Strong	Altered Expression	[71]
PSEN1	OTKL39RT	Strong	Autosomal dominant	[22]
PSMD2	OT6HZHN7	Strong	Genetic Variation	[49]
PSPH	OTV1PVAX	Strong	Genetic Variation	[23]
PSPN	OT54LLZJ	Strong	Genetic Variation	[23]
RBMX	OTFZN66E	Strong	Biomarker	[65]
REG1A	OTMHUH1D	Strong	Genetic Variation	[23]
RIDA	OTW4098I	Strong	Genetic Variation	[23]
RNPS1	OT7G4COD	Strong	Genetic Variation	[72]
SCRN1	OTELM5C2	Strong	Biomarker	[73]
SERPINI1	OTUJHIJW	Strong	Genetic Variation	[60]
SFPQ	OTLCIAPJ	Strong	Biomarker	[36]
SMURF1	OT5UIZR8	Strong	Biomarker	[74]
SRSF4	OTLI7CU1	Strong	Biomarker	[65]
SRSF9	OT2STDP4	Strong	Genetic Variation	[75]
STH	OTK8ULTH	Strong	Genetic Variation	[76]
STXBP3	OTTTYMAQ	Strong	Genetic Variation	[23]
TIA1	OTGPN3P8	Strong	Genetic Variation	[77]
TMEM106B	OTUWA6NW	Strong	Biomarker	[78]
TOMM40	OTZDQ29F	Strong	Genetic Variation	[79]
MFSD8	OT455EIC	Definitive	Genetic Variation	[80]

References

• [1] Thalamic nuclei in frontotemporal dementia: Mediodorsal nucleus involvement is universal but pulvinar atrophy is unique to C9orf72.Hum Brain Mapp. 2020 Mar;41(4):1006-1016. doi: 10.1002/hbm.24856. Epub 2019 Nov 7.
• [2] A soluble tau fragment generated by caspase-2 is associated with dementia in Lewy body disease.Acta Neuropathol Commun. 2019 Jul 30;7(1):124. doi: 10.1186/s40478-019-0765-8.
• [3] Midregional Proenkephalin A and N-terminal Protachykinin A are decreased in the cerebrospinal fluid of patients with dementia disorders and acute neuroinflammation.J Neuroimmunol. 2010 Apr 15;221(1-2):62-7. doi: 10.1016/j.jneuroim.2010.02.004. Epub 2010 Mar 5.
• [4] L3MBTL1 regulates ALS/FTD-associated proteotoxicity and quality control.Nat Neurosci. 2019 Jun;22(6):875-886. doi: 10.1038/s41593-019-0384-5. Epub 2019 May 6.
• [5] 18F-Florbetaben PET/CT to Assess Alzheimer's Disease: A new Analysis Method for Regional Amyloid Quantification.J Neuroimaging. 2019 May;29(3):383-393. doi: 10.1111/jon.12601. Epub 2019 Feb 3.
• [6] PSEN1 p.Met233Val in a Complex Neurodegenerative Movement and Neuropsychiatric Disorder.J Mov Disord. 2018 Jan;11(1):45-48. doi: 10.14802/jmd.17066. Epub 2018 Jan 11.
• [7] Mutation analysis of KIF5A in Chinese amyotrophic lateral sclerosis patients.Neurobiol Aging. 2019 Jan;73:229.e1-229.e4. doi: 10.1016/j.neurobiolaging.2018.08.006. Epub 2018 Aug 9.
• [8] The role of 18F-FP-CIT PET in differentiation of progressive supranuclear palsy and frontotemporal dementia in the early stage.Eur J Nucl Med Mol Imaging. 2018 Jul;45(9):1585-1595. doi: 10.1007/s00259-018-4019-y. Epub 2018 May 4.
• [9] Targeting TDP-43 phosphorylation by Casein Kinase-1 inhibitors: a novel strategy for the treatment of frontotemporal dementia.Mol Neurodegener. 2016 Apr 30;11(1):36. doi: 10.1186/s13024-016-0102-7.
• [10] Integrative system biology analyses of CRISPR-edited iPSC-derived neurons and human brains reveal deficiencies of presynaptic signaling in FTLD and PSP.Transl Psychiatry. 2018 Dec 13;8(1):265. doi: 10.1038/s41398-018-0319-z.
• [11] Genetic and Pathological Assessment of hnRNPA1, hnRNPA2/B1, and hnRNPA3 in Familial and Sporadic Amyotrophic Lateral Sclerosis.Neurodegener Dis. 2017;17(6):304-312. doi: 10.1159/000481258. Epub 2017 Nov 11.
• [12] Mechanistic View of hnRNPA2 Low-Complexity Domain Structure, Interactions, and Phase Separation Altered by Mutation and Arginine Methylation.Mol Cell. 2018 Feb 1;69(3):465-479.e7. doi: 10.1016/j.molcel.2017.12.022. Epub 2018 Jan 18.
• [13] Up-regulation of adenosine A1 receptors in frontal cortex from Pick's disease cases.Eur J Neurosci. 2007 Dec;26(12):3501-8. doi: 10.1111/j.1460-9568.2007.05965.x. Epub 2007 Dec 4.
• [14] Interaction between a MAPT variant causing frontotemporal dementia and mutant APP affects axonal transport.Neurobiol Aging. 2018 Aug;68:68-75. doi: 10.1016/j.neurobiolaging.2018.03.033. Epub 2018 Apr 5.
• [15] Constitutive Dyrk1A is abnormally expressed in Alzheimer disease, Down syndrome, Pick disease, and related transgenic models. Neurobiol Dis. 2005 Nov;20(2):392-400.
• [16] The NIK protein kinase and C17orf1 genes: chromosomal mapping, gene structures and mutational screening in frontotemporal dementia and parkinsonism linked to chromosome 17.Hum Genet. 1998 Sep;103(3):340-5. doi: 10.1007/s004390050827.
• [17] The cerebrospinal fluid levels of tau, growth-associated protein-43 and soluble amyloid precursor protein correlate in Alzheimer's disease, reflecting a common pathophysiological process.Dement Geriatr Cogn Disord. 2001 Jul-Aug;12(4):257-64. doi: 10.1159/000051268.
• [18] Anti-GluA3 antibodies in frontotemporal dementia: effects on glutamatergic neurotransmission and synaptic failure.Neurobiol Aging. 2020 Feb;86:143-155. doi: 10.1016/j.neurobiolaging.2019.10.015. Epub 2019 Nov 1.
• [19] Human brain cytosolic histamine-N-methyltransferase is decreased in Down syndrome and increased in Pick's disease. Neurosci Lett. 2002 Mar 22;321(3):169-72.
• [20] Role for ATXN1, ATXN2, and HTT intermediate repeats in frontotemporal dementia and Alzheimer's disease.Neurobiol Aging. 2020 Mar;87:139.e1-139.e7. doi: 10.1016/j.neurobiolaging.2019.10.017. Epub 2019 Nov 1.
• [21] Current advances on different kinases involved in tau phosphorylation, and implications in Alzheimer's disease and tauopathies.Curr Alzheimer Res. 2005 Jan;2(1):3-18. doi: 10.2174/1567205052772713.
• [22] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
• [23] Involvement of Oligodendrocytes in Tau Seeding and Spreading in Tauopathies.Front Aging Neurosci. 2019 May 28;11:112. doi: 10.3389/fnagi.2019.00112. eCollection 2019.
• [24] Mutations in presenilin 2 and its implications in Alzheimer's disease and other dementia-associated disorders.Clin Interv Aging. 2015 Jul 14;10:1163-72. doi: 10.2147/CIA.S85808. eCollection 2015.
• [25] Functional and dynamic polymerization of the ALS-linked protein TDP-43 antagonizes its pathologic aggregation.Nat Commun. 2017 Jun 29;8(1):45. doi: 10.1038/s41467-017-00062-0.
• [26] Mechanisms of selective autophagy and mitophagy: Implications for neurodegenerative diseases.Neurobiol Dis. 2019 Feb;122:23-34. doi: 10.1016/j.nbd.2018.07.015. Epub 2018 Jul 17.
• [27] Association of the TBK1 mutation p.Ile334Thr with frontotemporal dementia and literature review.Mol Genet Genomic Med. 2019 Mar;7(3):e547. doi: 10.1002/mgg3.547. Epub 2019 Jan 22.
• [28] Functional Studies of Missense TREM2 Mutations in Human Stem Cell-Derived Microglia.Stem Cell Reports. 2018 Apr 10;10(4):1294-1307. doi: 10.1016/j.stemcr.2018.03.003. Epub 2018 Mar 29.
• [29] Appoptosin-Mediated Caspase Cleavage of Tau Contributes to Progressive Supranuclear Palsy Pathogenesis.Neuron. 2015 Sep 2;87(5):963-75. doi: 10.1016/j.neuron.2015.08.020.
• [30] Uncoupling protein 4 (UCP4) gene variability in neurodegenerative disorders: further evidence of association in Frontotemporal dementia.Aging (Albany NY). 2018 Nov 13;10(11):3283-3293. doi: 10.18632/aging.101632.
• [31] Visual encoding, consolidation, and retrieval in amyotrophic lateral sclerosis: executive function as a mediator, and predictor of performance.Amyotroph Lateral Scler Frontotemporal Degener. 2017 May;18(3-4):193-201. doi: 10.1080/21678421.2016.1272615. Epub 2017 Jan 13.
• [32] Investigating the role of filamin C in Belgian patients with frontotemporal dementia linked to GRN deficiency in FTLD-TDP brains.Acta Neuropathol Commun. 2015 Nov 10;3:68. doi: 10.1186/s40478-015-0246-7.
• [33] Gene structure and map location of the murine homolog of the Huntington-associated protein, Hap1.Mamm Genome. 1998 Jul;9(7):565-70. doi: 10.1007/s003359900819.
• [34] CSF/serum albumin ratio in dementias: a cross-sectional study on 1861 patients.Neurobiol Aging. 2017 Nov;59:1-9. doi: 10.1016/j.neurobiolaging.2017.06.028. Epub 2017 Jul 11.
• [35] Neurofilament light chain as a blood biomarker to differentiate psychiatric disorders from behavioural variant frontotemporal dementia.J Psychiatr Res. 2019 Jun;113:137-140. doi: 10.1016/j.jpsychires.2019.03.019. Epub 2019 Mar 24.
• [36] Cerebral ischemia induces the aggregation of proteins linked to neurodegenerative diseases.Sci Rep. 2018 Feb 9;8(1):2701. doi: 10.1038/s41598-018-21063-z.
• [37] Cerebrospinal fluid neurogranin concentration in neurodegeneration: relation to clinical phenotypes and neuropathology.Acta Neuropathol. 2018 Sep;136(3):363-376. doi: 10.1007/s00401-018-1851-x. Epub 2018 Apr 26.
• [38] C9orf72 and RAB7L1 regulate vesicle trafficking in amyotrophic lateral sclerosis and frontotemporal dementia.Brain. 2017 Apr 1;140(4):887-897. doi: 10.1093/brain/awx024.
• [39] RPS25 is required for efficient RAN translation of C9orf72 and other neurodegenerative disease-associated nucleotide repeats.Nat Neurosci. 2019 Sep;22(9):1383-1388. doi: 10.1038/s41593-019-0455-7. Epub 2019 Jul 29.
• [40] Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis.Hum Mol Genet. 2012 Jun 1;21(11):2412-9. doi: 10.1093/hmg/dds055. Epub 2012 Feb 17.
• [41] A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers.Brain. 2018 Oct 1;141(10):2895-2907. doi: 10.1093/brain/awy238.
• [42] Apolipoprotein D Upregulation in Alzheimer's Disease but Not Frontotemporal Dementia.J Mol Neurosci. 2019 Jan;67(1):125-132. doi: 10.1007/s12031-018-1217-9. Epub 2018 Nov 22.
• [43] Presence of tau astrogliopathy in frontotemporal dementia caused by a novel Grn nonsense (Trp2*) mutation.Neurobiol Aging. 2019 Apr;76:214.e11-214.e15. doi: 10.1016/j.neurobiolaging.2018.11.010. Epub 2018 Nov 20.
• [44] Distal hereditary motor neuropathy type7B with Dynactin 1 mutation.Mol Med Rep. 2016 Oct;14(4):3362-8. doi: 10.3892/mmr.2016.5664. Epub 2016 Aug 22.
• [45] Loss of DPP6 in neurodegenerative dementia: a genetic player in the dysfunction of neuronal excitability.Acta Neuropathol. 2019 Jun;137(6):901-918. doi: 10.1007/s00401-019-01976-3. Epub 2019 Mar 14.
• [46] TDP-43 functions within a network of hnRNP proteins to inhibit the production of a truncated human SORT1 receptor.Hum Mol Genet. 2016 Feb 1;25(3):534-45. doi: 10.1093/hmg/ddv491. Epub 2015 Nov 27.
• [47] The pro-apoptotic JNK scaffold POSH/SH3RF1 mediates CHMP2BIntron5-associated toxicity in animal models of frontotemporal dementia.Hum Mol Genet. 2018 Apr 15;27(8):1382-1395. doi: 10.1093/hmg/ddy048.
• [48] Xrp1 genetically interacts with the ALS-associated FUS orthologue caz and mediates its toxicity.J Cell Biol. 2018 Nov 5;217(11):3947-3964. doi: 10.1083/jcb.201802151. Epub 2018 Sep 12.
• [49] A conserved inter-domain communication mechanism regulates the ATPase activity of the AAA-protein Drg1.Sci Rep. 2017 Mar 17;7:44751. doi: 10.1038/srep44751.
• [50] TOMM40, APOE, and APOC1 in primary progressive aphasia and frontotemporal dementia.J Alzheimers Dis. 2012;31(4):731-40. doi: 10.3233/JAD-2012-120403.
• [51] Mutations of CCNF gene is rare in patients with amyotrophic lateral sclerosis and frontotemporal dementia from Mainland China.Amyotroph Lateral Scler Frontotemporal Degener. 2017 May;18(3-4):265-268. doi: 10.1080/21678421.2017.1293111. Epub 2017 Mar 10.
• [52] Genetic and immunopathological analysis of CHCHD10 in Australian amyotrophic lateral sclerosis and frontotemporal dementia and transgenic TDP-43 mice.J Neurol Neurosurg Psychiatry. 2020 Feb;91(2):162-171. doi: 10.1136/jnnp-2019-321790. Epub 2019 Nov 5.
• [53] PD-linked CHCHD2 mutations impair CHCHD10 and MICOS complex leading to mitochondria dysfunction.Hum Mol Genet. 2019 Apr 1;28(7):1100-1116. doi: 10.1093/hmg/ddy413.
• [54] Inflammatory markers of CHMP2B-mediated frontotemporal dementia.J Neuroimmunol. 2018 Nov 15;324:136-142. doi: 10.1016/j.jneuroim.2018.08.009. Epub 2018 Aug 17.
• [55] The expression of creatine kinase isoenzymes in neocortex of patients with neurodegenerative disorders: Alzheimer's and Pick's disease.Exp Neurol. 1997 Aug;146(2):458-65. doi: 10.1006/exnr.1997.6550.
• [56] Prognostic importance of apathy in syndromes associated with frontotemporal lobar degeneration.Neurology. 2019 Apr 2;92(14):e1547-e1557. doi: 10.1212/WNL.0000000000007249. Epub 2019 Mar 6.
• [57] Of brain and bone: the unusual case of Dr. A.Neurocase. 2009 Jun;15(3):190-205. doi: 10.1080/13554790802632967.
• [58] Multiple distinct pathways lead to hyperubiquitylated insoluble TDP-43 protein independent of its translocation into stress granules. J Biol Chem. 2020 Jan 17;295(3):673-689. doi: 10.1074/jbc.RA119.010617. Epub 2019 Nov 28.
• [59] Mutation analysis of patients with neuronal intermediate filament inclusion disease (NIFID).Neurobiol Aging. 2006 May;27(5):778.e1-778.e6. doi: 10.1016/j.neurobiolaging.2005.03.030. Epub 2005 Jul 7.
• [60] Early onset autosomal dominant dementia with ataxia, extrapyramidal features, and epilepsy.Neurology. 2002 Mar 26;58(6):922-8. doi: 10.1212/wnl.58.6.922.
• [61] Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis. Nat Neurosci. 2014 May;17(5):664-666. doi: 10.1038/nn.3688. Epub 2014 Mar 30.
• [62] Syntaxin 13, a genetic modifier of mutant CHMP2B in frontotemporal dementia, is required for autophagosome maturation.Mol Cell. 2013 Oct 24;52(2):264-71. doi: 10.1016/j.molcel.2013.08.041. Epub 2013 Oct 3.
• [63] A novel MAPT mutation, G55R, in a frontotemporal dementia patient leads to altered Tau function.PLoS One. 2013 Sep 27;8(9):e76409. doi: 10.1371/journal.pone.0076409. eCollection 2013.
• [64] Nuclear inclusions mimicking poly(A)-binding protein nuclear 1 inclusions in a case of inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia with a novel mutation in the valosin-containing protein gene.Neuromuscul Disord. 2016 Jul;26(7):436-40. doi: 10.1016/j.nmd.2016.05.001. Epub 2016 May 5.
• [65] An SRp75/hnRNPG complex interacting with hnRNPE2 regulates the 5' splice site of tau exon 10, whose misregulation causes frontotemporal dementia.Gene. 2011 Oct 10;485(2):130-8. doi: 10.1016/j.gene.2011.06.020. Epub 2011 Jun 30.
• [66] An N-terminal fragment of ProSAAS (a granin-like neuroendocrine peptide precursor) is associated with tau inclusions in Pick's disease.Biochem Biophys Res Commun. 2003 Aug 29;308(3):646-54. doi: 10.1016/s0006-291x(03)01391-3.
• [67] Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementia.Neurobiol Aging. 2013 May;34(5):1517.e9-10. doi: 10.1016/j.neurobiolaging.2012.09.016. Epub 2012 Oct 11.
• [68] Humanized monoclonal antibody armanezumab specific to N-terminus of pathological tau: characterization and therapeutic potency.Mol Neurodegener. 2017 May 5;12(1):33. doi: 10.1186/s13024-017-0172-1.
• [69] Saitohin, which is nested in the tau locus and confers allele-specific susceptibility to several neurodegenerative diseases, interacts with peroxiredoxin 6.J Biol Chem. 2005 Nov 25;280(47):39268-72. doi: 10.1074/jbc.M506116200. Epub 2005 Sep 26.
• [70] PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology. Brain. 2014 May;137(Pt 5):1361-73. doi: 10.1093/brain/awu067. Epub 2014 Apr 9.
• [71] Aberrant expression of peroxiredoxin subtypes in neurodegenerative disorders.Brain Res. 2003 Mar 28;967(1-2):152-60. doi: 10.1016/s0006-8993(02)04243-9.
• [72] SR protein 9G8 modulates splicing of tau exon 10 via its proximal downstream intron, a clustering region for frontotemporal dementia mutations.Mol Cell Neurosci. 2007 Jan;34(1):48-58. doi: 10.1016/j.mcn.2006.10.004. Epub 2006 Nov 29.
• [73] Secernin-1 is a novel phosphorylated tau binding protein that accumulates in Alzheimer's disease and not in other tauopathies.Acta Neuropathol Commun. 2019 Dec 3;7(1):195. doi: 10.1186/s40478-019-0848-6.
• [74] VCP/p97 increases BMP signaling by accelerating ubiquitin ligase Smurf1 degradation.FASEB J. 2019 Feb;33(2):2928-2943. doi: 10.1096/fj.201801173R. Epub 2018 Oct 18.
• [75] Tau exons 2 and 10, which are misregulated in neurodegenerative diseases, are partly regulated by silencers which bind a SRp30c.SRp55 complex that either recruits or antagonizes htra2beta1.J Biol Chem. 2005 Apr 8;280(14):14230-9. doi: 10.1074/jbc.M413846200. Epub 2005 Feb 3.
• [76] Saitohin polymorphism and executive dysfunction in schizophrenia.Neurol Sci. 2012 Oct;33(5):1051-6. doi: 10.1007/s10072-011-0893-9. Epub 2011 Dec 21.
• [77] Mutation analysis of the TIA1 gene in Chinese patients with amyotrophic lateral sclerosis and frontotemporal dementia.Neurobiol Aging. 2018 Apr;64:160.e9-160.e12. doi: 10.1016/j.neurobiolaging.2017.12.017. Epub 2017 Dec 27.
• [78] TMEM106B Effect on cognition in Parkinson disease and frontotemporal dementia.Ann Neurol. 2019 Jun;85(6):801-811. doi: 10.1002/ana.25486.
• [79] Gene-based association studies report genetic links for clinical subtypes of frontotemporal dementia.Brain. 2017 May 1;140(5):1437-1446. doi: 10.1093/brain/awx066.
• [80] Rare variants in the neuronal ceroid lipofuscinosis gene MFSD8 are candidate risk factors for frontotemporal dementia.Acta Neuropathol. 2019 Jan;137(1):71-88. doi: 10.1007/s00401-018-1925-9. Epub 2018 Oct 31.