Table 2.

Neurodegenerative disease associated genes and variation collected in LOVD 3.0

No.	Disease name	Associated genes	No. of variations	No. of references
1	Alzheimer disease	ABCA7, ABCB1, ADRA1A, AGBL3, ANKS1B, APOE, APP, ATP8B3, BCL3, BIN1, C16orf96, C1orf112, C3orf20, CASS4, CD2AP, CD33, CELF1, CELF2, CENPJ, CFAP70, CHGB, CHMP2B, CHRNB2, CLU, CR1, CSMD1, CST3, CTSF, DSG2, EBLN1, EPHA1-AS1, EXOC3L2, FAM47E, FANCD2, FERMT2, FPR1, FRAS1, FRMD4A, GAL3ST4, GPR45, GRIN2B, HERC6, HFE, HMGCR, IL1B, INPP5D, IP6K3, IPMK, IQCK, KCNQ3, KIF13B, KLHDC4, LRAT, MAGI3, MAPT, MEF2C-AS1, MS4A1, MS4A13, MS4A14, MS4A2, MS4A3, MS4A4A, MS4A4E, MS4A6A, MS4A6E, MS4A7, MSRB3, MYCBPAP, NECTIN2, NFATC1, NFIC, NLGN1, NT5C3A, OPRD1, OPRM1, OR52E4, PDE6B, PEBP4, PICALM, PRNP, PSAP, PSEN1, PSEN2, PTK2B, PVR, QRFPR, RGS11, SIRT1, SLC22A14, SLC24A4, SORCS1, SORL1, SPI1, SUN2, SYNPR, TFAM, TM2D3, TNK1, TOMM40, TP53INP1, TREM2, TREML1, TREML2, TREML4, TTBK2, TTR, UNC5C, WDR46, ZCWPW1, ZNF646	824	219
2	Alexander disease	GFAP	108	58
3	Amyotrophic lateral sclerosis	ALS2, ANG, APEX1, ARHGEF28, C9orf72, CCNF, CHCHD10, CHGB, CHMP2B, DAO, DCTN1, FUS, GLE1, GRN, HFE, HNRNPA1, KIF5A, LIF, LRSAM1, MATR3, MOB3B, OGG1, OPTN, PARK7, PFN1, PON1, PON2, PRPH, SETX, SIGMAR1, SOD1, SPAST, SQSTM1, SS18L1, TARDBP, TBK1, TUBA4A, UBQLN2, UNC13A, VAPB, VCP	762	283
4	Canavan disease	ASPA	86	28
5	Cockayne syndrome	ERCC5, ERCC6, ERCC8	124	21
6	Creutzfeldt-Jakob disease	PRNP, SPRN	70	54
7	Dystonia musculorum deformans	ADCY5, ATM, ATP1A3, GCH1, GNAL, PNKD, PRKRA, SGCE, SLC2A1, THAP1, TOR1A	173	90
8	Familial amyloid neuropathies	APOA1, GSN, TTR	147	110
9	Fatal familial insomnia	PRNP	8	8
10	Frontotemporal lobar degeneration	CCNF, CHCHD10, CHMP2B, DAPK1, FUS, GFAP, GRN, GSK3B, LRRK2, MAPT, MOB3B, OPTN, PRNP, PSEN1, SOD1, SQSTM1, TARDBP, TBK1, TMEM106B, TREM2, UBQLN2, VCP	376	230
11	Gerstmann-Straussler-Scheinker disease	PRNP	36	29
12	Hepatolenticular degeneration	ATP7B	166	51
13	Hereditary sensory and autonomic neuropathy	FAM134B, IKBKAP, NGF, NTRK1, PRNP, RAB7A, SPTLC1, SPTLC2, WNK1	88	33
14	Hereditary sensory and motor neuropathy	DCAF8, DYNC1H1, EGR2, FGD4, FIG4, GDAP1, GJB1, HSPB2, HSPB8, KIF1B, LITAF, LMNA, MFN2, MPZ, MTMR2, NDRG1, NEFL, PEX7, PHYH, PMP22, PRX, RAB7A, SBF2, SH3TC2, SLC12A6, TFG	248	140
15	Kuru	PRNP	1	1
16	Lewy body dementia	CYP2D6, DNAJC13, GBA, LRRK2, PRNP, PSEN1, PSEN2, SNCA, SNCB	32	12
17	Lafora disease	EPM2A, NHLRC1	119	25
18	Lambert-Eaton myasthenic syndrome	SYT2	2	1
19	Lesch-Nyhan syndrome	HPRT1	173	55
20	Myotonia congenita	CLCN1, SCN4A	117	55
21	Menkes Kinky hair syndrome	ATP7A	163	26
22	Multiple system atrophy	COQ2, POLG	26	5
23	Neuronal ceroid-lipofuscinoses	CLCN6, CLN3, CLN5, CLN6, CLN8, CTSD, MFSD8, POLG, PPT1, SGSH, TPP1	393	11
24	NeuroFibromatoses	NF2	109	6
25	Optic atrophy	AFG3L2, MFN2, OPA1, OPA3, SLC25A46	298	61
26	Parkinson disease	ABCA7, ADORA1, APOE, BST1, BTNL2, CD2AP, CLU, CR1, DGKQ, DNAJC13, FBXO7, GAK, GALNT3, GBA, GCH1, HLA-DRA, LRRK2, MAPT, MS4A6A, NUCKS1, PARK2, PARK7, PCGF3, PICALM, PINK1, PM20D1, PODXL, PRDM2, PRNP, PTRHD1, RIC3, RIT2, SEMA5A, SLC2A13, SLC41A1, SLC45A3, SLC50A1, SNCA, SPPL2C, SREBF1, SYNJ1, TMEM175, VPS35	616	78
27	Pantothenate kinase-associated neurodegeneration	PANK2, RAB39B	132	31
28	Pelizaeus–Merzbacher disease	PLP1	96	49
29	Progressive Bulbar palsy	SOD1, TTR	3	3
30	Progressive supranuclear palsy	DCTN1, MAPT, PARK2	16	10
31	Rett syndrome	CDKL5, FOXG1, MECP2	394	100
32	Spinocerebellar degenerations	AFG3L2, C10orf2, CACNA1A, CACNA1G, ELOVL4, ELOVL5, ITPR1, KCNC3, KCND3, SPTBN2, TGM6, TMEM240, TTBK2	53	33
33	Spinal muscular atrophy of adults	HEXA, LMNA, SMN1, VAPB	41	17
34	Spinal muscular atrophies of childhood	HEXA, IGHMBP2, SMN1	49	22
35	Tourette syndrome	HDC, SLITRK1	6	3
36	Tuberous sclerosis	TSC1, TSC2	575	22
37	Unverricht-Lundborg syndrome	CSTB, PRICKLE1, SCARB2	19	14