Klinische FragestellungAtaxie, zerebelläre [Erwachsenenalter]; Differentialdiagnose

NGS +

Hereditäre zerebelläre Ataxien sind klinisch und genetisch heterogen. Das Kleinhirnsyndrom ist häufig Teil eines komplexen klinischen Spektrums mit zusätzlichen neurologischen und/oder extraneurologischen Symptomen. Die häufigsten AR Ataxien umfassen M. Friedreich- und Ataxia telangiektasia. AD Ataxien werden häufig durch CAG repeat Expansionen in den Genen ATXN1-3, -7, CACNA1A, TBP, ATN1 verursacht; Mutationen in >140 Genen sind bekannt.

• Alias: Erbliche Ataxie, Erwachsene
• Alias: Hereditary ataxia, AD, adult onset
• Allelic: Alternating hemiplegia of childhood 1 (ATP1A2)
• Allelic: Alternating hemiplegia of childhood 2 (ATP1A3)
• Allelic: Amyotrophic lateral sclerosis 4, juvenile (SETX)
• Allelic: Arthrogryposis multiplex congenita 3, myogenic type (SYNE1)
• Allelic: Bile acid synthesis defect, congenital, 3 (CYP7B1)
• Allelic: Breast cancer, susceptibility to (ATM)
• Allelic: Brugada syndrome 9 (KCND3)
• Allelic: Combined oxidative phosphorylation deficiency 13 (PNPT1)
• Allelic: Congenital hypotonia, epilepsy, developmental delay + digital anomalies (ATN1_CAG)
• Allelic: Convulsions, familial infantile, with paroxysmal choreoathetosis (PRRT2)
• Allelic: Creutzfeldt-Jakob disease (PRNP)
• Allelic: Deafness, AR 70, with/-out adult-onset neurodegeneration (PNPT1)
• Allelic: Emery-Dreifuss muscular dystrophy 4, AD (SYNE1)
• Allelic: Epilepsy, idiopathic generalized, susceptibility to, 12 (SLC2A1)
• Allelic: Epilepsy, juvenile absence, susceptibility to, 2 (CLCN2)
• Allelic: Epilepsy, juvenile myoclonic, susceptibility to, 8 (CLCN2)
• Allelic: Epileptic encephalopathy, early infantile, 13 (SCN1A)
• Allelic: Epileptic encephalopathy, early infantile, 32 (KCNA2)
• Allelic: Epileptic encephalopathy, early infantile, 42 (CACNA1A)
• Allelic: Epileptic encephalopathy, early infantile, 6 [Dravet syndrome] (SCN1A)
• Allelic: Epileptic encephalopathy, early infantile, 7 (KCNQ2)
• Allelic: Febrile seizures, familial, 3A (SCN1A)
• Allelic: Fibrosis of extraocular muscles, congenital, 3A (TUBB3)
• Allelic: GLUT1 deficiency syndrome 1, infantile onset, severe (SLC2A1)
• Allelic: GLUT1 deficiency syndrome 2, childhood onset (SLC2A1)
• Allelic: Gerstmann-Straussler disease (PRNP)
• Allelic: Glaucoma, normal tension, susceptibility to (OPA1)
• Allelic: Hyperaldosteronism, familial, type II (CLCN2)
• Allelic: Ichthyosis, spastic quadriplegia + mental retardation (ELOVL4)
• Allelic: Insomnia, fatal familial (PRNP)
• Allelic: Kuru, susceptibility to (PRNP)
• Allelic: Leukodystrophy, hypomyelinating, 6 (TUBB4A)
• Allelic: Lymphoma, B-cell non-Hodgkin, somatic (ATM)
• Allelic: Lymphoma, mantle cell, somatic (ATM)
• Allelic: Migraine, familial hemiplegic, 1 (CACNA1A)
• Allelic: Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia (CACNA1A)
• Allelic: Mitochondrial AR ataxia syndrome [includes SANDO + SCAE] (POLG)
• Allelic: Mitochondrial DNA depletion syndrome 14 [encephalocardiomyopathic type] (OPA1)
• Allelic: Mitochondrial DNA depletion syndrome 4A [Alpers type] (POLG)
• Allelic: Mitochondrial DNA depletion syndrome 4B [MNGIE type]
• Allelic: Monosomy 7 myelodysplasia + leukemia syndrome 1 (SAMD9L)
• Allelic: Myoclonus, familial, 2 (SCN1A)
• Allelic: Neuropathy, hereditary sensory, type IE (DNMT1)
• Allelic: Optic atrophy 1 (OPA1)
• Allelic: Optic atrophy 12 (AFG3L2)
• Allelic: Parkinson disease, susceptibility to (ATXN8OS)
• Allelic: Parkinson disease, susceptibility to (TBP_CAG)
• Allelic: Prion disease with protracted course (PRNP)
• Allelic: Progressive external ophthalmoplegia with mtDNA deletions, AD 3 (TWNK)
• Allelic: Progressive external ophthalmoplegia, AD 1/AR 1 (POLG)
• Allelic: Rhizomelic chondrodysplasia punctata, type 1 (PEX7)
• Allelic: Seizures, benign familial infantile, 2 (PRRT2)
• Allelic: Seizures, benign familial infantile, 5 (SCN1A)
• Allelic: Seizures, benign neonatal, 1 (KCNQ2)
• Allelic: Sensory ataxic neuropathy, dysarthria + ophthalmoparesis [SANDO] (POLG)
• Allelic: Spinocerebellar ataxia 29, congenital nonprogressive (ITPR1)
• Allelic: Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits (CACNA1G)
• Allelic: Spinocerebellar ataxia with epilepsy [SCAE] (POLG)
• Allelic: Spinocerebellar ataxia, AR 13 (GRM1)
• Allelic: Spinocerebellar ataxia, AR 14 (SPTBN2)
• Allelic: Spinocerebellar ataxia, AR 16 (STUB1)
• Allelic: Stargardt disease 3 (ELOVL4)
• Allelic: T-cell prolymphocytic leukemia, somatic (ATM)
• Allelic: Thyroid cancer, nonmedullary, 1 (NKX2-1)
• Allelic: Xeroderma pigmentosum, group G/Cockayne syndrome (ERRC5)
• 3-methylglutaconic aciduria, type III (OPA3)
• 3-methylglutaconic aciduria, type V (DNAJC19)
• Abetalipoproteinemia (MTTP)
• Achalasia-addisonianism-alacrimia syndrome (AAAS)
• Alexander disease (GFAP)
• Allelic: Cataract 41 (WFS1)
• Allelic: Charcot-Marie-Tooth disease, axonal, type 2N (AARS1)
• Allelic: Charcot-Marie-Tooth disease, type 2B2 (PNKP)
• Allelic: Congenital disorder of glycosylation, type Iq (SRD5A3)
• Allelic: Deafness, AD 6/14/38 (WFS1)
• Allelic: Developmental + epileptic encephalopathy 29 (AARS1)
• Allelic: Enlarged vestibular aqueduct, digenic (KCNJ10)
• Allelic: Epilepsy, idiopathic generalized, susceptibility to, 11 (CLCN2)
• Allelic: Hydrocephalus, congenital, 3, with brain anomalies (WDR81)
• Allelic: Hyperaldosteronism, familial, type II (CLCN2)
• Allelic: Infantile neuroaxonal dystrophy 1 (PLA2G6)
• Allelic: Laurence-Moon syndrome (PNPLA6)
• Allelic: Lymphatic malformation 3 (GJC2)
• Allelic: Metabolic syndrome, protection against (MTTP)
• Allelic: Microcephaly, seizures + developmental delay (PNKP)
• Allelic: Myopathy, distal, with rimmed vacuoles (SQSTM1)
• Allelic: Neurodegeneration with ataxia, dystonia + gaze palsy, childhood-onset (SQSTM1
• Allelic: Neuropathy, hereditary motor + sensory, type VIB (SLC25A46)
• Allelic: Oliver-McFarlane syndrome (PNPLA6)
• Allelic: Optic atrophy 1 (OPA1)
• Allelic: Optic atrophy 3 with cataract (OPA3)
• Allelic: Optic atrophy plus syndrome (OPA1)
• Allelic: Paget disease of bone 3 (SQSTM1)
• Allelic: Parkinson disease 5, susceptibility to (UCHL1)
• Allelic: Perrault syndrome 5 (TWNK)
• Allelic: Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 3 (TWNK)
• Allelic: Spinocerebellar ataxia 44 (GRM1)
• Allelic: Spinocerebellar ataxia 48 (STUB1)
• Allelic: Spinocerebellar ataxia 5 (SPTBN2)
• Allelic: Thyroid cancer, nonmedullary, 1 (NKX2-1)
• Allelic: Trichothiodystrophy 8, nonphotosensitive (AARS1)
• Allelic: Wolfram-like syndrome, AD (WFS1)
• Ataxia + oculomotor apraxia type 2, AOA2 (SETX)
• Ataxia + 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, sensory, 1, AD (RNF170)
• Ataxia-oculomotor apraxia 4 (PNKP)
• Ataxia-pancytopenia syndrome (SAMD9L)
• Ataxia-telangiectasia (ATM)
• Ataxia-telangiectasia-like disorder 1 (MRE11)
• Behr syndrome (OPA1)
• Behr syndrome [early-onset optic atrophy, neurologic features, including ataxia] (OPA1)
• Boucher-Neuhauser syndrome (PNPLA6)
• Brown-Vialetto-Van Laere syndrome 2 (SLC52A2)
• CAPOS [Cereb. ataxia, Areflexia, Pes cavus, Optic atrophy, Sensorin. hearing loss] syndrome (ATP1A3)
• Cerebellar ataxia (CP)
• Cerebellar ataxia + hypogonadotropic hypogonadism (RNF216)
• Cerebellar ataxia + mental retardation +/- quadrupedal locomotion 3 (CA8)
• Cerebellar ataxia, deafness + narcolepsy, AD (DNMT1)
• Cerebellar ataxia, early onset, mild to moderate, progressive [panelapp] (PRDX3)
• Cerebellar ataxia, mental retardation + dysequilibrium syndrome 2 (WDR81)
• Cerebellar ataxia, mental retardation + dysequilibrium syndrome 4 (ATP8A2)
• Cerebellar ataxia, nonprogressive, with mental retardation (CAMTA1)
• Cerebellar hypoplasia + mental retardation -/+ quadrupedal locomotion 1 (VLDLR)
• Cerebellofaciodental syndrome (BRF1)
• Cerebral amyloid angiopathy, PRNP-related (PRNP)
• Cerebrotendinous xanthomatosis (CYP27A1)
• Ceroid lipofuscinosis, neuronal, 2 (TPP1)
• Ceroid lipofuscinosis, neuronal, 4, Parry type (DNAJC5)
• Ceroid lipofuscinosis, neuronal, 4A, Kufs type, AR (CCLN6)
• Ceroid lipofuscinosis, neuronal, 6 (CLN6)
• Charcot-Marie-Tooth disease, axonal, type 2A2A + 2A2B (MFN2)
• Charcot-Marie-Tooth disease, axonal, type 2T (MME)
• Chorea, hereditary benign (NKX2-1)
• Choreoathetosis, hypothyroidism + neonatal respiratory distress (NKX2-1)
• Chylomicron retention disease (SAR1B)
• Coenzyme Q10 deficiency, primary, 4 (COQ8A)
• Cognitive impairment with/-out cerebellar ataxia (SCN1A)
• Complex phenotypic spectrum from Emery-Dreifuss muscular dystrophy to ataxia SCA8 (SYNE1)
• Congenital disorder of glycosylation, type IIi (COG5)
• Congenital disorder of glycosylation, type IIn (SLC39A8)
• Cortical dysplasia, complex, with other brain malformations 1 (TUBB3)
• Cortical dysplasia, complex, with other brain malformations 7 (TUBB2B)
• Dentatorubral-pallidoluysian atrophy (ATN1_CAG)
• Developmental + epileptic encephalopathy 28 (WWOX)
• Developmental + epileptic encephalopathy 44 (UBA5)
• Developmental + epileptic encephalopathy 66 (PACS2)
• Dyskinesia, familial, with facial myokymia (ADCY5)
• Dystonia 4, torsion, AD (TUBB4A)
• Dystonia 9 (SLC2A1)
• Dystonia, dopa-responsive, due to sepiapterin reductase deficiency (SPR)
• Dystonia-12 (ATP1A3)
• Epilepsy, generalized, with febrile seizures plus, type 2 (SCN1A)
• Epilepsy, idiopathic generalized, susceptibility to, 11 (CLCN2)
• Epilepsy, progressive myoclonic 1A, Unverricht + Lundborg (CSTB)
• Epilepsy, progressive myoclonic 1A, Unverricht + Lundborg (CSTB_CCCCGCCCCGCG)
• Epilepsy, progressive myoclonic 1B (PRICKLE1)
• Epilepsy, progressive myoclonic 2A, Lafora (EPM2A)
• Epilepsy, progressive myoclonic 2B, Lafora (NHLRC1)
• Epilepsy, progressive myoclonic 6 (GOSR2)
• Episodic ataxia, type 2 (CACNA1A)
• Episodic ataxia, type 6 (SLC1A3)
• Episodic ataxia/myokymia syndrome (KCNA1)
• Episodic kinesigenic dyskinesia 1 (PRRT2)
• Friedreich ataxia (FXN)
• Friedreich ataxia (FXN_GAA)
• Friedreich ataxia with retained reflexes (FXN)
• Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (SQSTM1)
• GM2-gangliosidosis, several forms (HEXA)
• Galloway-Mowat syndrome 1 (WDR73)
• Gaze palsy, familial horizontal, with progressive scoliosis, 1 (ROBO3)
• Gillespie syndrome [aniridia, cerebellar ataxia + mental retardation] (ITPR1)
• Glycosylphosphatidylinositol biosynthesis defect 15 (GPAA1)
• Hemosiderosis, systemic, due to aceruloplasminemia (CP)
• Hereditary motor and sensory neuropathy VIA (MFN2)
• Huntington disease-like 1 (PRNP)
• Hyperekplexia 1 (GLRA1)
• Hyperekplexia 2 Hyperekplexia 2 (GLRB)
• Hypotonia, ataxia + delayed development syndrome (EBF3)
• Infantile-onset multisystem neurologic, endocrine + pancreatic disease (PTRH2)
• Intellectual developmental disorder with/-out epilepsy or cerebellar ataxia (RORA)
• Joubert syndrome 30 (ARMC9)
• Juvenile amyotrophic lateral sclerosis, ALS4; AD ataxia (SETX)
• Kahrizi syndrome (SRD5A3)
• Krabbe disease (GALC)
• Leukodystrophy, hypomyelinating, 16 (TMEM106B)
• Leukodystrophy, hypomyelinating, 2 (GJC2)
• Leukodystrophy, hypomyelinating, 7, +/- oligodontia +/- hypogonadotropic hypogonadism (POLR3A)
• Leukoencephalopathy with ataxia (CLCN2)
• Leukoencephalopathy with brain stem + spinal cord involvement + lactate elevation (DARS2)
• Leukoencephalopathy with vanishing white matter (EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5)
• Leukoencephalopathy, hereditary diffuse, with spheroids 2 (AARS1)
• Lichtenstein-Knorr syndrome (SLC9A1)
• Lissencephaly 3 (TUBA1A)
• Marinesco-Sjogren syndrome (SIL1)
• Mental retardation, AD 5 (SYNGAP1)
• Metachromatic leukodystrophy (ARSA)
• Methylmalonic aciduria + homocystinuria, cblC type (MMACHC)
• Migraine, familial basilar (ATP1A2)
• Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia (CACNA1A)
• Migraine, familial hemiplegic, 2 (ATP1A2)
• Migraine, familial hemiplegic, 3 (SCN1A)
• Mitochondrial DNA depletion syndrome 14, encephalocardiomyopathic type (OPA1)
• Mitochondrial DNA depletion syndrome 7, hepatocerebral type (TWNK)
• Mitochondrial complex IV deficiency, nuclear type 11 (COX20)
• Mitochondrial recessive ataxia syndrome [includes SANDO + SCAE] (POLG)
• Mitochondrial spinocerebellar ataxia with epilepsy, SCAE (POLG)
• Multiple mitochondrial dysfunctions syndrome 6 (PMPCB)
• Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 13 (B4GAT1)
• Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies, type A, 11 (B3GALNT2)
• Myokymia (KCNQ2)
• Myopathy, mitochondrial + ataxia (MSTO1)
• Neurodegeneration due to cerebral folate transport deficiency (FOLR1)
• Neurodegeneration with brain iron accumulation 2B (PLA2G6)
• Neurodegeneration with brain iron accumulation 6 (COASY)
• Neurodegeneration, childhood-onset, stress-induced, with variable ataxia + seizures (ADPRS)
• Neurodevelopmental disorder with epilepsy + hypoplasia of the corpus callosum (LNPK)
• Neurodevelopmental disorder with regression, abnormal movements, loss of speech, seizures (IRF2BPL)
• Neurodevelopmental disorder with/-out variable brain abnormalities (MAPK8IP3)
• Niemann-Pick disease, type C2 (NPC2)
• Niemann-Pick disease, types C1 + D (NPC1)
• Optic atrophy plus syndrome (OPA1)
• Ovarioleukodystrophy (EIF2B2, EIF2B4, EIF2B5)
• Parkinson disease 14, AR (PLA2G6)
• Paroxysmal nonkinesigenic dyskinesia 1 (PNKD)
• Peroxisome biogenesis disorder 4A, Zellweger (PEX6)
• Peroxisome biogenesis disorder 4B (PEX6)
• Peroxisome biogenesis disorder 5A, Zellweger (PEX2)
• Peroxisome biogenesis disorder 5B (OEX2)
• Peroxisome biogenesis disorder 8A, Zellweger (PEX16)
• Peroxisome biogenesis disorder 8B (PEX16)
• Peroxisome biogenesis disorder 9B (PEX7)
• Perrault syndrome 5 (TWNK)
• Polymicrogyria, bilateral frontoparietal (ADGRG1)
• Polymicrogyria, bilateral perisylvian (ADGRG1)
• Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract (ABHD12)
• Pontocerebellar hypoplasia type 1A (VRK1)
• Pontocerebellar hypoplasia type 2A (TSEN54)
• Pontocerebellar hypoplasia type 2B (TSEN2)
• Pontocerebellar hypoplasia type 2D (SEPSECS)
• Pontocerebellar hypoplasia type 4 (TSEN54)
• Pontocerebellar hypoplasia type 5 (TSEN54)
• Pontocerebellar hypoplasia, type 10 (CLP1)
• Pontocerebellar hypoplasia, type 11 (TBC1D23)
• Pontocerebellar hypoplasia, type 12 (COASY)
• Pontocerebellar hypoplasia, type 1B (EXOSC3)
• Pontocerebellar hypoplasia, type 1C (EXOSC8)
• Pontocerebellar hypoplasia, type 1D (EXOSC9)
• Pontocerebellar hypoplasia, type 1E (SLC25A46)
• Pontocerebellar hypoplasia, type 2E (VPS53)
• Pontocerebellar hypoplasia, type 2F (TSEN15)
• Pontocerebellar hypoplasia, type 6 (RARS2)
• Pontocerebellar hypoplasia, type 7 (TOE1)
• Pontocerebellar hypoplasia, type 8 (CHMP1A)
• Pontocerebellar hypoplasia, type 9 (AMPD2)
• Refsum disease [disorders of peroxisomal alpha-, beta, omega-oxidation} (PHYH)
• SESAME syndrome (KCNJ10)
• Sandhoff disease, infantile, juvenile + adult forms (HEXB)
• Sensible atactic neuropathy with dysarthria + ophthalmoplegia, SANDO (POLG)
• Spastic ataxia 2, AR (KIF1C)
• Spastic ataxia 3, AR (MARS2)
• Spastic ataxia 4, AR (MTPAP)
• Spastic ataxia 5, AR (AFG3L2)
• Spastic ataxia 8, AR, with hypomyelinating leukodystrophy (NKX6-2)
• Spastic ataxia 9, AR (CHP1)
• Spastic ataxia, Charlevoix-Saguenay type (SACS)
• Spastic paraplegia 15, AR (ZFYVE26)
• Spastic paraplegia 39, AR (PNPLA6)
• Spastic paraplegia 44, AR (GJC2)
• Spastic paraplegia 46, AR (GBA2)
• Spastic paraplegia 54, AR (DDHD2)
• Spastic paraplegia 56, AR (CYP2U1)
• Spastic paraplegia 5A, AR (CYP7B1)
• Spastic paraplegia 63 (AMPD2)
• Spastic paraplegia 7 complex forms; range of phenotypes including adult-onset ataxia (SPG7)
• Spastic paraplegia 7, AR (SPG7)
• Spastic paraplegia 76, AR (CAPN1)
• Spastic paraplegia 79, AR (UCHL1)
• Spinocerebellar ataxia 1 (ATXN1_CAG)
• Spinocerebellar ataxia 10 (ATXN10_ATTCT)
• Spinocerebellar ataxia 11 (TTBK2)
• Spinocerebellar ataxia 12 (PPP2R2B_CAG)
• Spinocerebellar ataxia 14 (PRKCG)
• Spinocerebellar ataxia 15 (ITPR1)
• 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 3 (ATXN3_CAG)
• Spinocerebellar ataxia 34 (ELOVL4)
• Spinocerebellar ataxia 36 (NOP56_GGCCTG)
• Spinocerebellar ataxia 37 (DAB1)
• Spinocerebellar ataxia 41 (TRPC3)
• Spinocerebellar ataxia 42 (CACNA1G)
• Spinocerebellar ataxia 43 (MME)
• Spinocerebellar ataxia 44 (GRM1)
• Spinocerebellar ataxia 46 (PLD3)
• Spinocerebellar ataxia 47 (PUM1)
• Spinocerebellar ataxia 48 (STUB1)
• Spinocerebellar ataxia 5 (SPTBN2)
• Spinocerebellar ataxia 6 (CACNA1A)
• Spinocerebellar ataxia 6 (CACNA1A_CAG)
• Spinocerebellar ataxia 7 (ATXN7_CAG)
• Spinocerebellar ataxia 8 (ATXN8)
• Spinocerebellar ataxia 8 (ATXN8OS)
• Spinocerebellar ataxia, AR 10 (ANO10)
• Spinocerebellar ataxia, AR 12 (WWOX)
• Spinocerebellar ataxia, AR 13 (GRM1)
• Spinocerebellar ataxia, AR 14 (SPTBN2)
• Spinocerebellar ataxia, AR 16 (STUB1)
• Spinocerebellar ataxia, AR 17 (CWF19L1)
• Spinocerebellar ataxia, AR 18 (GRID2)
• Spinocerebellar ataxia, AR 2 (PMPCA)
• Spinocerebellar ataxia, AR 20 [both, AD + AR; biallelic more severe disease; panelapp] 20 (SNX14)
• Spinocerebellar ataxia, AR 21 (SCYL1)
• Spinocerebellar ataxia, AR 24 (UBA5)
• Spinocerebellar ataxia, AR 26 (XRCC1)
• Spinocerebellar ataxia, AR 27 (GDAP2)
• 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 2 (SETX)
• Spinocerebellar ataxia, AR, with axonal neuropathy 3 (COA7)
• Stomatin-deficient cryohydrocytosis with neurologic defects (SLC2A1)
• Tay-Sachs disease (HEXA)
• Wiedemann-Rautenstrauch syndrome (POLR3A)
• Wilson disease (ATP7B)
• Wolfram syndrome 1 (WFS1)