IllnessDementias, differential diagnosis

NGS + X

[Sanger]

A quarter of all people aged >55 years have a family history of dementia. In most cases, this is due to genetically complex diseases in which many genetic variations interact with little effect to increase the risk of dementia. The lifetime risk of dementia in these families is approximately 20% (10% in the general population). Few families show autosomal dominant inheritance of early-onset dementia, often caused by mutations in one of the dementia genes with high penetrance. In addition to Alzheimer disease (AD), frontotemporal and other familial dementias can be defined by molecular genetics. AD is the most common form, with an estimated lifetime risk of nearly 20% in women and 10% in men. The genetic basis of AD is best understood in the early-onset forms, which account for <1% of cases and are inherited in an autosomal dominant manner. The genetic basis of late-onset AD is more complex and is not covered here. Frontotemporal dementia is the second most common cause of dementia, about 20-50% of cases are familial with mutations in three genes found in 60% of familial cases, of which C9orf72 mutations are the most common (25%; <5% of mutations occur in other genes). Virtually all monogenic forms of dementia are inherited in an autosomal dominant manner. DNA diagnostic yields for monogenic dementias with high familiality reach 30%. The clinical diagnosis can by no means be ruled out by a negative molecular genetic result.

https://www.ncbi.nlm.nih.gov/books/NBK1476/

https://www.ncbi.nlm.nih.gov/books/NBK304142/

https://www.ncbi.nlm.nih.gov/books/NBK1371/

https://www.ncbi.nlm.nih.gov/books/NBK1224/

https://www.ncbi.nlm.nih.gov/books/NBK1450/

https://www.ncbi.nlm.nih.gov/books/NBK1197/

https://www.ncbi.nlm.nih.gov/books/NBK1438/

https://www.ncbi.nlm.nih.gov/books/NBK1491/

https://www.ncbi.nlm.nih.gov/books/NBK84112/

• Alias: Alzheimer disease
• Alias: Frontotemporale Demenz
• Alias: Parkinson-Demenz
• Alias: Pick-Demenz
• Alias: Vaskuläre Demenz
• Allelic: Acne inversa, familial, 3 (PSEN1)
• Allelic: Al-Gazali-Bakalinova syndrome (KIF7)
• Allelic: Alternating hemiplegia of childhood 2 (ATP1A3)
• Allelic: Alzheimer disease, type 3, with spastic paraparesis + apraxia (PSEN1)
• Allelic: Alzheimer disease, type 3, with spastic paraparesis + unusual plaques (PSEN1)
• Allelic: Amyotrophic lateral sclerosis 17 (CHMP2B)
• Allelic: Amyotrophic lateral sclerosis 20 (HNRNPA1)
• Allelic: Amyotrophic lateral sclerosis, susceptibility to, 13 (ATXN2)
• Allelic: Aphasia, primary progressive (GRN)
• Allelic: Arthrogryposis multiplex congenita 3, myogenic type (SYNE1)
• Allelic: Basal cell nevus syndrome (SUFU)
• Allelic: Breast cancer, susceptibility to (ATM)
• Allelic: Brugada syndrome 9 (KCND3)
• Allelic: Cardiomyopathy, dilated, 1U (PSEN1)
• Allelic: Cardiomyopathy, dilated, 1V (PSEN2)
• Allelic: Ceroid lipofuscinosis, neuronal, 11(GRN)
• Allelic: Charcot-Marie-Tooth disease, axonal, type 2T (MME)
• Allelic: Charcot-Marie-Tooth disease, type 2B2 (PNKP)
• Allelic: Charcot-Marie-Tooth disease, type 2Y (VCP)
• Allelic: Dementia, frontotemporal (PSEN1)
• Allelic: Dermatofibrosarcoma protuberans (PDGFB)
• Allelic: Emery-Dreifuss muscular dystrophy 4, AD (SYNE1)
• Allelic: Encephalopathy, acute, infection-induced, herpes-specific, susceptibility to, 8 (TBK1)
• Allelic: Episodic ataxia, type 2 (CACNA1A)
• Allelic: Essential tremor, hereditary, 4 (FUS)
• Allelic: Gaucher disease, perinatal lethal (GBA)
• Allelic: Gaucher disease, type I + II (GBA)
• Allelic: Gaucher disease, type IIIC (GBA)
• Allelic: Heimler syndrome 2 (PEX6)
• Allelic: Hydrolethalus syndrome 2 (KIF7)
• Allelic: Hyperferritinemia-cataract syndrome (FTL)
• Allelic: Inclusion body myopathy, early-onset Paget dis. +/- frontotemp. dement. 2 (HNRNPA2B1)
• Allelic: Inclusion body myopathy, early-onset Paget dis. without frontotemporal demen. 3 (HNRNPA1)
• Allelic: Inclusion body myopathy, early-onset Paget disease + frontotemporal dementia 1 (VCP)
• Allelic: Insomnia, fatal familial (PRNP)
• Allelic: Kuru, susceptibility to (PRNP)
• Allelic: L-ferritin deficiency, AD + AR (FTL)
• Allelic: Lateral meningocele syndrome (NOTCH3)
• Allelic: Leber congenital amaurosis 10 (CEP290)
• Allelic: Lopes-Maciel-Rodan syndrome (HTT)
• Allelic: Macular degeneration, age-related, 11 (CST3)
• Allelic: Macular degeneration, age-related, 7 (HTRA1)
• Allelic: Macular degeneration, age-related, neovascular type (HTRA1)
• Allelic: Macular dystrophy with central cone involvement (MFSD8)
• Allelic: Meckel syndrome 1 (MKS1)
• Allelic: Meckel syndrome 11 (TMEM231)
• Allelic: Meckel syndrome 2 (TMEM216)
• Allelic: Meckel syndrome 3 (TMEM67)
• Allelic: Meckel syndrome 4 (CEP290)
• Allelic: Meckel syndrome 5 (RPGRIP1L)
• Allelic: Meckel syndrome 6 (CC2D2A)
• Allelic: Meckel syndrome 8 (TCTN2)
• Allelic: Meckel syndrome 9 (B9D1)
• Allelic: Medulloblastoma, desmoplastic (SUFU)
• Allelic: Meningioma, SIS-related (PDGFB)
• Allelic: Meningioma, familial, susceptibility to (SUFU)
• Allelic: Migraine, familial hemiplegic, 1 (CACNA1A)
• Allelic: Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia (CACNA1A)
• Allelic: Myeloproliferative disorder with eosinophilia (PDGFRB)
• Allelic: Myofibromatosis, infantile 2 (NOTCH3)
• Allelic: Myofibromatosis, infantile, 1 (PDGFRB)
• Allelic: Myopathy, distal, with rimmed vacuoles (SQSTM1)
• Allelic: Myopathy, isolated mitochondrial, AD (CHCHD10)
• Allelic: Nephronophthisis 1, juvenile (NPHP1)
• Allelic: Nephronophthisis 11 (TMEM67)
• Allelic: Neuropathy, hereditary sensory, type IE (DNMT1)
• Allelic: Optic atrophy 12 (AFG3L2)
• Allelic: Paget disease of bone 3 (SQSTM1)
• Allelic: Parkinson disease 1 + 4 (SNCA)
• Allelic: Parkinson disease, late-onset, susceptibility to (ATXN2)
• Allelic: Parkinson disease, late-onset, susceptibility to (GBA)
• Allelic: Parkinson disease, susceptibility to (TBP)
• Allelic: Perrault syndrome 5 (TWNK)
• Allelic: Pick disease (MAPT, PSEN1)
• Allelic: Premature aging syndrome, Penttinen type (PDGFRB)
• Allelic: Progressive external ophthalmoplegia, AD 1 (POLG1)
• Allelic: Progressive external ophthalmoplegia, AR 1 (POLG1)
• Allelic: RHYNS syndrome (TMEM67)
• Allelic: Retinal dystrophy with inner retinal dysfunction + ganglion cell abnormalities (ITM2B)
• Allelic: Retinitis pigmentosa 23 (OFD1)
• Allelic: Retinitis pigmentosa 83 (ARL3)
• Allelic: Senior-Loken syndrome 6 (CEP290)
• Allelic: Senior-Loken syndrome-1 (NPHP1)
• Allelic: Short-rib thoracic dysplasia 13 with/-out polydactyly (CEP120)
• Allelic: Short-rib thoracic dysplasia 14 with polydactyly (KIAA0586)
• Allelic: Short-rib thoracic dysplasia 21 without polydactyly (KIAA9753)
• Allelic: Spastic paraplegia 43, AR (C19orf12)
• Allelic: Spinal muscular atrophy, Jokela type (CHCHD10)
• Allelic: Spinocerebellar ataxia 15 (ITPR1)
• Allelic: Stargardt disease 3 (ELOVL4)
• Allelic: Supranuclear palsy, progressive (MAPT)
• Allelic: Supranuclear palsy, progressive atypical (MAPT)
• Acrocallosal syndrome (KIF7)
• Adrenoleukodystrophy (ABCD1)
• Adrenomyeloneuropathy, adult (ABCD1)
• Allelic: Ataxia-pancytopenia syndrome (SAMD9L)
• Allelic: Deafness, AR 70, +/- adult-onset neurodegeneration (PNPT1)
• Allelic: Monosomy 7 myelodysplasia + leukemia syndrome 1 (SAMD9L)
• Allelic: Nephronophthisis 14 (ZNF423)
• Alzheimer disease 3 (PSEN1)
• Alzheimer disease 4 (PSEN2)
• Alzheimer disease 9, susceptibility to (ABCA7)
• Amyotrophic lateral sclerosis 10, with/-out FTD (TARDBP)
• Amyotrophic lateral sclerosis 14, with/-out frontotemporal dementia (VCP)
• Amyotrophic lateral sclerosis 15, with/-out frontotemporal dementia (UBQLN2)
• Amyotrophic lateral sclerosis 4, juvenile (SETX)
• Amyotrophic lateral sclerosis 6, with/-out frontotemporal dementia (FUS)
• Ataxia with isolated vitamin E deficiency (TTPA)
• Ataxia, cerebellar, Cayman type (ATCAY)
• Ataxia, early-onset, with oculomotor apraxia + hypoalbuminemia (APTX)
• Ataxia, posterior column, with retinitis pigmentosa (FLVCR1)
• Ataxia-oculomotor apraxia 3 (PIK3R5)
• Ataxia-oculomotor apraxia 4 (PNKP)
• Ataxia-telangiectasia (ATM)
• Ataxia-telangiectasia-like disorder 1 (MRE11)
• Bardet-Biedl syndrome 13 (MKS1)
• Bardet-Biedl syndrome 14 (CEP290)
• Bardet-Biedl syndrome 14, modifier of (TMEM67)
• Basal ganglia calcification, idiopathic, 1 (SLC20A2)
• Basal ganglia calcification, idiopathic, 4 (PDGFRB)
• Basal ganglia calcification, idiopathic, 5 (PDGFB)
• Basal ganglia calcification, idiopathic, 6 (XPR1)
• Basal ganglia calcification, idiopathic, 7, AR (MYORG)
• Basal ganglia calcification, idiopathic, 8, AR (JAM2)
• Brain abnormalities, neurodegeneration + dysosteosclerosis (CSF1R)
• CAPOS syndrome (ATP1A3)
• CARASIL syndrome (HTRA1)
• COACH syndrome 1 (TMEM67)
• COACH syndrome 2 (CC2D2A)
• COACH syndrome 3 (RPGRIP1L)
• Cerebellar ataxia (CP)
• Cerebellar ataxia + mental retardation with/-out quadrupedal locomotion 3 (CA8)
• Cerebellar ataxia, deafness, narcolepsy, AD (DNMT1)
• Cerebellar ataxia, mental retardation + dysequilibrium syndrome 2 (WDR81)
• Cerebellar ataxia, mental retardation + dysequilibrium syndrome 4 (ATP8A2)
• Cerebellar ataxia, neuropathy + vestibular areflexia syndrome (RFC1)
• Cerebellar ataxia, nonprogressive, with mental retardation (CAMTA1)
• Cerebellar hypoplasia + mental retardation with/-out quadrupedal locomotion 1 (VLDLR)
• Cerebral amyloid angiopathy (CST3)
• Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants (APP)
• Cerebral amyloid angiopathy, PRNP-related (PRNP)
• Cerebral arteriopathy with subcortical infarcts + leukoencephalopathy 1 (NOTCH3)
• Cerebral arteriopathy, AD, with subcortical infarcts + leukoencephalopathy, type 2 (HTRA1)
• Cerebrotendinous xanthomatosis (CYP27A1)
• Ceroid lipofuscinosis, neuronal, 1 (PPT1)
• Ceroid lipofuscinosis, neuronal, 10 (CTSD)
• Ceroid lipofuscinosis, neuronal, 13 (Kufs type), AD (CTSF)
• Ceroid lipofuscinosis, neuronal, 2 (TPP1)
• Ceroid lipofuscinosis, neuronal, 3 (CLN3)
• Ceroid lipofuscinosis, neuronal, 4, Parry type (DNAJC5)
• Ceroid lipofuscinosis, neuronal, 4A, Kufs type, AR (CLN6)
• Ceroid lipofuscinosis, neuronal, 4B, Kufs type, AD (DNAJC5)
• Ceroid lipofuscinosis, neuronal, 5 (CLN5)
• Ceroid lipofuscinosis, neuronal, 6 (CLN6)
• Ceroid lipofuscinosis, neuronal, 7 (MFSD8)
• Ceroid lipofuscinosis, neuronal, 8 (CLN8)
• Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant (CLN8)
• Choreoacanthocytosis (VPS13A)
• Coenzyme Q10 deficiency, primary, 4 (COQ8A)
• Combined SAP deficiency (PSAP)
• Combined oxidative phosphorylation deficiency 13 (PNPT1)
• Combined oxidative phosphorylation deficiency 8 (AARS2)
• Congenital hypotonia, epilepsy, developmental delay, digital anomalies (ATN1)
• Cortical dysplasia, complex, with other brain malformations 7 (TUBB2B)
• Creutzfeldt-Jakob disease (PRNP)
• Dementia, Lewy body (SNCA)
• Dementia, Lewy body (SNCB)
• Dementia, familial British (ITM2B)
• Dementia, familial Danish (ITM2B)
• Dementia, frontotemporal, with/-out parkinsonism (MAPT)
• Dentatorubral-pallidoluysian atrophy (ATN1_CAG)
• Developemental + epileptic encephalopathy 42 (CACNA1A)
• Developmental + epileptic encephalopathy 28 (WWOX)
• Dystonia-12 (ATP1A3)
• Encephalopathy, progressive, with amyotrophy + optic atrophy (TBCE)
• Epilepsy, progressive myoclonic 2A [Lafora] (EPM2A)
• Epilepsy, progressive myoclonic 2B [Lafora] (NHLRC1)
• Epilepsy, progressive myoclonic 3, with/-out intracellular inclusions (KCTD7)
• Epilepsy, progressive myoclonic 4, with/-out renal failure (SCARB2)
• Friedreich ataxia (FXN_GAA)
• Friedreich ataxia with retained reflexes (FX_GAA)
• Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 (C9ORF72_GGGGCC)
• Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 (CHCHD10)
• Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (SQSTM1)
• Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 (TBK1)
• Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (VCP)
• Frontotemporal lobar degeneration with ubiquitin-positive inclusions (GRN)
• Frontotemporal lobar degeneration, TARDBP-related (TARDBP)
• GM2-gangliosidosis, several forms (HEXA)
• Galactosialidosis (CTSA)
• Galloway-Mowat syndrome 1 (WDR73)
• Gaucher disease, atypical (PSAP)
• Gaucher disease, type I, II, III, IIIC (GBA)
• Gaucher disease, type III (GBA)
• Gerstmann-Straussler disease (PRNP)
• Gillespie syndrome (ITPR1)
• HARP syndrome (PANK2)
• Hemosiderosis, systemic, due to aceruloplasminemia (CP)
• Hex A pseudodeficiency (HEXA)
• Huntington disease (HTT_CAG)
• Huntington disease-like 1 (PRNP)
• Huntington disease-like 2 (JPH3_CTG)
• Hydrocephalus, congenital, 1 (CCDC88C)
• Hydrocephalus, congenital, 3, with brain anomalies (WDR81)
• Hydrolethalus syndrome (HYLS1)
• Hypoceruloplasminemia, hereditary (CP)
• Hypoparathyroidism-retardation-dysmorphism syndrome (TBCE)
• Ichthyosis, spastic quadriplegia + mental retardation (ELOVL4)
• Inclusion body myopathy with early-onset Paget disease + frontotemporal dementia 1 (VCP)
• Inclusion body myopathy with early-onset Paget disease +/- frontotemporal dementia 2 (HNRNPA2B1)
• Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3 (HNRNPA1)
• Infantile neuroaxonal dystrophy 1 (PLA2G6)
• Intellectual disability, cerebellar ataxia, molar tooth sign [panelapp] (CBY1)
• Joubert syndrome 1 (INPP5E)
• Joubert syndrome 10 (OFD1)
• Joubert syndrome 12 (KIF7)
• Joubert syndrome 13 (TCTN1)
• Joubert syndrome 14 (TMEM237)
• Joubert syndrome 15 (CEP41)
• Joubert syndrome 16 (TMEM138)
• Joubert syndrome 17 (CPLANE1)
• Joubert syndrome 18 (TCTN3)
• Joubert syndrome 19 (ZNF423)
• Joubert syndrome 2 (TMEM216)
• Joubert syndrome 20 (TMEM231)
• Joubert syndrome 21 (CSPP1)
• Joubert syndrome 22 (PDE6D)
• Joubert syndrome 23 (KIAA0586)
• Joubert syndrome 24 (TCTN2)
• Joubert syndrome 25 (CEP104)
• Joubert syndrome 26 (KATNIP syn. KIAA0556)
• Joubert syndrome 27 (B9D1)
• Joubert syndrome 28 (MKS1)
• Joubert syndrome 3 (AHI1)
• Joubert syndrome 30 (ARMC9)
• Joubert syndrome 31 (CEP120)
• Joubert syndrome 32 (SUFU)
• Joubert syndrome 33 (PIBF1)
• Joubert syndrome 34 (B9D2)
• Joubert syndrome 35 (ARL3)
• Joubert syndrome 36 (FAM149B1)
• Joubert syndrome 37 (TOGARAM1)
• Joubert syndrome 38 (KIAA0753)
• Joubert syndrome 39 (TMEM218)
• Joubert syndrome 4 (NPHP1)
• Joubert syndrome 5 (CEP290)
• Joubert syndrome 6 (TMEM67)
• Joubert syndrome 7 (RPGRIP1L)
• Joubert syndrome 8 (ARL13B)
• Joubert syndrome 9 (CC2D2A)
• Joubert syndrome [panelapp] (CBY1)
• Kenny-Caffey syndrome, type 1 (TBCE)
• Kosaki overgrowth syndrome (PDGFRB)
• Krabbe disease (GALC)
• Krabbe disease, atypical (PSAP)
• Kufor-Rakeb syndrome (ATP13A2)
• Leukodystrophy, hypomyelinating, 16 (TMEM106B)
• Leukoencephalopathy, diffuse hereditary, with spheroids (CSF1R)
• Leukoencephalopathy, progressive, with ovarian failure (AARS2)
• Lewy body dementia, susceptibility to (GBA)
• Machado-Joseph disease (ATXN3_CAG)
• Marinesco-Sjogren syndrome (SIL1)
• McLeod syndrome with/-out chronic granulomatous disease (XK)
• Meckel syndrome 10 (B9D2)
• Mental retardation, truncal obesity, retinal dystrophy + micropenis (INPP5E)
• Metachromatic leukodystrophy (ARSA)
• Metachromatic leukodystrophy due to SAP-b deficiency (PSAP)
• Microcephaly, seizures + developmental delay (PNKP)
• Mitochondrial DNA depletion syndrome 4A, Alpers type (POLG1)
• Mitochondrial DNA depletion syndrome 4B, MNGIE type (POLG1)
• Mitochondrial DNA depletion syndrome 7, hepatocerebral type (TWNK)
• Mitochondrial recessive ataxia syndrome, includes SANDO + SCAE (POLG1)
• Muscular dystrophy, congenital, with cataracts + intellectual disability (INPP5K)
• Neurodegeneration with ataxia, dystonia + gaze palsy; childhood-onset (SQSTM1)
• Neurodegeneration with brain iron accumulation 1 (PANK2)
• Neurodegeneration with brain iron accumulation 2B (PLA2G6)
• Neurodegeneration with brain iron accumulation 3 (FTL)
• Neurodegeneration with brain iron accumulation 4 (C19orf12)
• Neurodegeneration with brain iron accumulation 5 (WDR45)
• Neurodegeneration with brain iron accumulation 6 (COASY)
• Neurodegenerative disorder, adult onset [panelapp] (DNAJC13)
• Niemann-Pick disease, type C2 (NPC2)
• Niemann-Pick disease, types C1 + D (NPS1)
• Orofaciodigital syndrome I (OFD1)
• Orofaciodigital syndrome IV (TCTN3)
• Orofaciodigital syndrome VI (CPLANE1)
• Orofaciodigital syndrome XV (KIAA9753)
• Parkinson disease 1 (Gigyf2)
• Parkinson disease 14, AR (PLA2G6)
• Parkinson disease 17 (VPS35)
• Parkinson disease 18 (EIF4G1)
• Parkinson disease 24, AD, susceptibility to (PSAP)
• Parkinson disease 8 (LRRK2)
• Parkinson disease, late-onset, susceptibility to (GBA)
• Parkinson disease, susceptibility to (TBP)
• Peroxisome biogenesis disorder 4A (Zellweger (PEX6)
• Peroxisome biogenesis disorder 4B (PEX6)
• Peroxisome biogenesis disorder 6A, Zellweger (PPEX10)
• Peroxisome biogenesis disorder 6B (PEX10)
• Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 (TYROBP)
• Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 (TREM2)
• Pontocerebellar hypoplasia, type 12 (COASY)
• Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 3 (TWNK)
• RIDDLE [radiosensitivity, immunodeficiency, dysmorphic facies, lD] syndrome (RNF168)
• Retinitis pigmentosa 31 (TOPORS)
• Sandhoff disease, infantile, juvenile + adult forms (HEXB)
• Simpson-Golabi-Behmel syndrome, type 2 (OFD1)
• Spastic ataxia 5, AR (AFG3L2)
• Spastic paraplegia 35, AR (FA2H)
• Spastic paraplegia 46, AR (GBA2)
• Spastic paraplegia 78, AR (ATP13A2)
• Spinocerebellar ataxia 1 (ATXN1_CAG)
• Spinocerebellar ataxia 10 (ATCN10_ATTCT)
• Spinocerebellar ataxia 11 (TTBK2)
• Spinocerebellar ataxia 12 (PPP2R2B)
• Spinocerebellar ataxia 13 (KCNC3)
• Spinocerebellar ataxia 14 (PRKCG)
• Spinocerebellar ataxia 17 (TBP)
• Spinocerebellar ataxia 17 (TBP_CAG)
• Spinocerebellar ataxia 19 (KCND3)
• Spinocerebellar ataxia 2 (ATXN2_CAG)
• Spinocerebellar ataxia 21 (TMEM240)
• Spinocerebellar ataxia 23 (PDYN)
• Spinocerebellar ataxia 25 (PNPT1)
• Spinocerebellar ataxia 26 (EEF2)
• Spinocerebellar ataxia 27 (FGF14)
• Spinocerebellar ataxia 28 (AFG3L2)
• Spinocerebellar ataxia 29, congenital nonprogressive (ITPR1)
• Spinocerebellar ataxia 31 (BEAN1_TGGAA)
• Spinocerebellar ataxia 34 (ELOVL4)
• Spinocerebellar ataxia 35 (TGM6)
• Spinocerebellar ataxia 36 (NOP56_GGCCTG)
• Spinocerebellar ataxia 37 (DAB1)
• Spinocerebellar ataxia 38 (ELOVL5)
• Spinocerebellar ataxia 40 (CCDC88C)
• Spinocerebellar ataxia 41 (TRPC3)
• Spinocerebellar ataxia 42 (CACNA1G)
• Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits (CACNA1G)
• Spinocerebellar ataxia 43 (MME)
• Spinocerebellar ataxia 44 (GRM1)
• Spinocerebellar ataxia 45 (FAT2)
• Spinocerebellar ataxia 46 (PLD3)
• Spinocerebellar ataxia 47 (PUM1)
• Spinocerebellar ataxia 48 (STUB1)
• Spinocerebellar ataxia 49 (SAMD9L)
• Spinocerebellar ataxia 5 (SPTBN2)
• Spinocerebellar ataxia 6 (CACNA1A_CAG + CACNA1A)
• Spinocerebellar ataxia 7 (ATXN7_CAG)
• Spinocerebellar ataxia, AR 10 (ANO10)
• Spinocerebellar ataxia, AR 11 (SYT14)
• Spinocerebellar ataxia, AR 12 (WWOX)
• Spinocerebellar ataxia, AR 13 (GRM1)
• Spinocerebellar ataxia, AR 14 (SPTBN2)
• Spinocerebellar ataxia, AR 15 (RUBCN)
• Spinocerebellar ataxia, AR 16 (STUB1)
• Spinocerebellar ataxia, AR 17 (CWF19L1)
• Spinocerebellar ataxia, AR 18 (GRID2)
• Spinocerebellar ataxia, AR 2 (PMPCA)
• Spinocerebellar ataxia, AR 21 (SCYL1)
• Spinocerebellar ataxia, AR 23 (TDP2)
• Spinocerebellar ataxia, AR 29 (VPS41)
• Spinocerebellar ataxia, AR 4 (VPS13D)
• Spinocerebellar ataxia, AR 7 (TPP1)
• Spinocerebellar ataxia, AR 8 (SYNE1)
• Spinocerebellar ataxia, AR, with axonal neuropathy 1 (TDP1)
• Spinocerebellar ataxia, AR, with axonal neuropathy 2 (SETX)
• Spongiform encephalopathy with neuropsychiatric features (PRNP)
• Tay-Sachs disease (HEXA)
• Woodhouse-Sakati syndrome (DCAF17)
• or amyotrophic lateral sclerosis 4 (TBK1)