Disorder | Distinguishing features | Gene locus and protein | OMIM# | |
SCA1 | Pyramidal signs, peripheral neuropathy, ophthalmoplegia | ATXN1 | Ataxin 1; CAG repeat | 601556 |
SCA2 | Slow saccades; less often parkinsonism, myoclonus, areflexia, dementia | ATXN2 | Ataxin 2; CAG repeat | 601517 |
SCA3 (MJD) | Slow saccades, persistent stare, extrapyramidal signs, peripheral neuropathy | ATXN3 | Ataxin 3 (MJD1); CAG repeat | 607047 |
SCA4 | Sensory axonal neuropathy | 16q22.1 | 600223 | |
SCA5 | Early onset but slow progression | SPTBN2 | Spectrin beta, nonerythrocytic 2 | 604985 |
SCA6 | May have very late onset, mild, may lack family history, nystagmus | CACNA1A | Calcium voltage-gated channel subunit alpha1 A; CAG repeat | 601011 |
SCA7 | Ataxia, retinal degeneration | ATXN7 | Ataxin 7; CAG repeat | 607640 |
SCA8 | Mild disease | ATXN8OS | ATXN8 opposite strand IncRNA; CTG*CAG repeat | 603680 |
SCA9 | Not assigned | |||
SCA10 | Generalized or focal with impaired awareness seizures | ATXN10 | Ataxin 10; ATTCT repeat | 611150 |
SCA11 | Mild disease | TTBK2 | Tau tubulin kinase 2 | 611695 |
SCA12 | Tremor, dementia | PPP2R2B | Protein phosphatase 2 regulatory subunit Bbeta; CAG repeat in 5' region | 604325 |
SCA13 | Intellectual disability | KCNC3 | Potassium voltage-gated channel subfamily C member 3 | 176264 |
SCA14 | Intermittent myoclonus with early-onset disease | PRKCG | Protein kinase C gamma | 176980 |
SCA15/16 | Slowly progressive; sometimes with myoclonus, dystonia | ITPR1 | Inositol 1,4,5-triphosphate receptor type 1 | 147265 |
SCA17 | Gait ataxia, dementia; can present with predominant chorea | TBP | TATA-box binding protein; CAG repeat | 600075 |
SCA18 | Pyramidal signs, weakness, sensory axonal neuropathy | 7q22-q32 | 607458 | |
SCA19/22 | Predominantly cerebellar syndrome, sometimes with cognitive impairment, myoclonus, hand tremor, neuropathy | KCND3 | Potassium voltage-gated channel subfamily D member 3 | 605411 |
SCA20 | Palatal tremor and dysphonia | 11q12 | Contiguous gene duplication syndrome | 608687 |
SCA21 | Mild to severe cognitive impairment | TMEM240 | Transmembrane protein 240 | 616101 |
SCA23 | Distal sensory deficits | PDYN | Prodynorphin | 131340 |
SCA24 | Recessive inheritance; redesignated as SCAR4 | VPS13D | Vacuolar protein sorting 13 homolog D | 607317 |
SCA25 | Sensory neuropathy, facial tics, gastrointestinal symptoms | PNPT1 | Polyribonucleotide nucleotidyltransferase 1 | 608703 |
SCA26 | Pure cerebellar ataxia | EEF2 | Eukaryotic translation elongation factor 2 | 130610 |
SCA27A | Cognitive impairment; early-onset hand tremor, orofacial dyskinesia | FGF14 | Fibroblast growth factor 14 | 601515 |
SCA27B | Late-onset cerebellar ataxia | FGF14 | Fibroblast growth factor 14, intronic GAA repeat expansion | 601515 |
SCA28 | Ophthalmoparesis and ptosis | AFG3L2 | AFG3 like matrix AAA peptidase subunit 2 | 604581 |
SCA29 | Early-onset, nonprogressive ataxia; may be an allelic variant of SCA15 | 3p26 | 117360 | |
SCA30 | Slowly progressive, relatively pure ataxia | 4q34.3-q35.1 | 613371 | |
SCA31 | Decreased muscle tone, hearing loss, vertigo | BEAN1 | Brain expressed associated with NEDD4 1; (TGGAA)n repeat | 612051 |
SCA32 | Cognitive impairment, affected males with azoospermia and testicular atrophy | 7q32-q33 | 613909 | |
SCA33 | Not assigned | |||
SCA34 | Skin lesions consisting of papulosquamous erythematous ichthyosiform plaques | ELOVL4 | ELOVL fatty acid elongase 4 | 605512 |
SCA35 | Late onset, slowly progressive gait and limb ataxia; cervical dystonia | TGM6 | Transglutaminase 6 | 613900 |
SCA36 | Late onset, truncal ataxia, dysarthria, variable motor neuron disease and sensorineural hearing loss | NOP56 | NOP56 ribonucleoprotein; GGCCTG repeat | 614154 |
SCA37 | Late onset, falls, dysarthria, clumsiness, abnormal vertical eye movements | DAB1 | DAB adaptor protein 1 | 603448 |
SCA38 | Slowly progressive relatively pure cerebellar phenotype; neuropathy | ELOVL5 | ELOVL fatty acid elongase 5 | 611805 |
SCA39 | Not assigned | |||
SCA40 | Hyperreflexia and spasticity, tremor, parkinsonism | CCDC88C | Coiled-coil domain-containing 88C | 611204 |
SCA41 | Gait ataxia | TRPC3 | Transient receptor potential cation channel subfamily C member 3 | 602345 |
SCA42 | Early motor delay, hypotonia, speech delay, severe intellectual disability, ataxia, facial myokymia | CACNA1G | Calcium voltage-gated channel subunit alpha 1G | 604065 |
SCA43 | Gait ataxia, neuropathy, hyporeflexia, tremor | MME | Membrane metalloendopeptidase | 120520 |
SCA44 | Ataxia, dysarthria, dysmetria, dysphagia | GRM1 | Glutamate metabotropic receptor 1 | 604473 |
SCA45 | Limb and gait ataxia, downbeat nystagmus, dysarthria | FAT2 | FAT atypical cadherin 2 | 604269 |
SCA46 | Neuropathy and sensory ataxia affecting lower limbs more than upper limbs, cerebellar atrophy | PLD3 | Phospholipase D family member 3 | 615698 |
SCA47 | Early-onset developmental disability, ataxia, chorea, seizure; later-onset ataxia, dysarthria, dysmetria | PUM1 | Pumilio RNA binding family member 1 | 607204 |
SCA48 | Gait ataxia, cognitive dysfunction in adulthood | STUB1 | STIP1 homology and U-box containing protein 1 | 607207 |
ATX-ATN1 (DRPLA) | Chorea, seizures, myoclonus, dementia | ATN1 | Atrophin 1; CAG repeat | 607462 |
ATX-DAB1 | Adult-onset, slowly progressive | DAB1 | DAB adaptor protein 1 | 615945 |
ATX-DNMT1 | Sensorineural deafness, narcolepsy, dementia | DNMT1 | DNA methyltransferase 1 | 126375 |
ATX-EBF3 | Hypotonia, ataxia, and delayed development syndrome (HADDS) | EBF3 | EBF transcription factor 3 | 617330 |
ATX-LMNB1 | Autosomal dominant, adult-onset demyelinating leukodystrophy (ADLD) | LMNB1 | Lamin B1 | 169500 |
ATX-SAMD9L | Ataxia-pancytopenia syndrome (ATXPC) | SAMD9L | Sterile alpha motif domain containing 9 like | 159550 |
ATX-SNAP25b | Early-onset myasthenia, developmental delay, intellectual disability, seizures, craniofacial dysmorphism, rarely tremor | SNAP25b | Synaptosome associated protein 25b | 616330 |
ATX-TUBB2A | Spasticity, developmental delay, seizures, distal amyotrophy, rarely optic atrophy | TUBB2A | Tubulin beta 2A class IIa | 615101 |
ATX/HSP-VAMP1 (SPAX1) | Spastic ataxia, supranuclear upward gaze palsy | VAMP1 | Vesicle associated membrane protein 1 | 108600 |
Do you want to add Medilib to your home screen?