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Characteristics of the autosomal dominant spinocerebellar ataxias

Characteristics of the autosomal dominant spinocerebellar ataxias
Disorder Distinguishing features Gene locus and protein
SCA1 Pyramidal signs, peripheral neuropathy ATXN1 CAG repeat, ataxin-1
SCA2 Slow saccades; less often myoclonus, areflexia ATXN2 CAG repeat, ataxin-2
SCA3 (MJD) Slow saccades, persistent stare, extrapyramidal signs, peripheral neuropathy ATXN3 CAG repeat, ataxin-3 (MJD1)
SCA4 Sensory neuropathy 16q22.1  
SCA5 Early onset but slow progression SPTBN2 Beta III spectrin
SCA6 May have very late onset, mild, may lack family history, nystagmus CACNA1A CAG repeat, alpha 1A P/Q calcium channel subunit
SCA7 Macular degeneration ATXN7 CAG repeat, ataxin-7
SCA8 Mild disease

ATXN8

ATXN8OS
CTG*CAG repeat
SCA9 Not assigned    
SCA10 Generalized or complex partial seizures ATXN10 ATTCT repeat, ataxin-10
SCA11 Mild disease TTBK2 Tau tubulin kinase-2
SCA12 Tremor, dementia PPP2R2B CAG repeat in 5' region, protein phosphatase 2A
SCA13 Intellectual disability KCNC3 Voltage gated potassium channel KCNC3
SCA14 Intermittent myoclonus with early onset disease PRKCG Protein kinase C gamma
SCA15/16 Slowly progressive ITPR1 Inositol 1,4,5-triphosphate receptor 1
SCA17 Gait ataxia, dementia TBP CAG repeats, TATA binding protein
SCA18 Pyramidal signs, weakness, sensory axonal neuropathy 7q22-q32  
SCA19/22 Predominantly cerebellar syndrome, sometimes with cognitive impairment or myoclonus KCND3 gene Voltage-gated potassium channel Kv4.3
SCA20 Palatal tremor and dysphonia 11q12  
SCA21 Mild to severe cognitive impairment TMEM240 Transmembrane protein 240
SCA23 Distal sensory deficits PDYN Prodynorphin
SCA24 Recessive inheritance; redesignated as SCAR4 1p36  
SCA25 Sensory neuropathy, facial tics, gastrointestinal symptoms 2p21-p13  
SCA26 Pure cerebellar ataxia EEF2 Eukaryotic translation elongation factor 2
SCA27 Cognitive impairment FGF14 Fibroblast growth factor 14
SCA28 Ophthalmoparesis and ptosis AFG3L2 Catalytic subunit of the mitochondrial AAA protease
SCA29 Early onset, nonprogressive ataxia; may be an allelic variant of SCA15 3p26  
SCA30 Slowly progressive, relatively pure ataxia 4q34.3-q35.1  
SCA31 Decreased muscle tone BEAN (TGGAA)n repeat
SCA32 Cognitive impairment, affected males with azoospermia and testicular atrophy 7q32-q33  
SCA33 Not assigned    
SCA34 Skin lesions consisting of papulosquamous erythematous ichthyosiform plaques ELOVL4 ELOVL fatty acid elongase 4
SCA35 Late onset, slowly progressive gait and limb ataxia TGM6 Transglutaminase 6
SCA36 Late onset, truncal ataxia, dysarthria, variable motor neuron disease and sensorineural hearing loss NOP56 GGCCTG repeat
SCA37 Late onset, falls, dysarthria, clumsiness, abnormal vertical eye movements 1p32  
SCA38 Slowly progressive pure cerebellar phenotype ELOVL5 ELOVL fatty acid elongase 5
SCA39 Not assigned    
SCA40 Hyperreflexia and spasticity CCDC88 Coiled-coil domain-containing 88C
SCA42 Early motor delay, hypotonia, speech delay, severe intellectual disability, ataxia CACNA1G Voltage-gated calcium channel subunit alpha 1G
SCA44 Ataxia, dysarthria, dysmetria, dysphagia GRM1 Metabotropic glutamate receptor 1
SCA45 Limb and gait ataxia, downbeat nystagmus, dysarthria FAT2 Protocadherin Fat 2
SCA46 Neuropathy and sensory ataxia affecting lower limbs more than upper limbs, cerebellar atrophy PLD3 5'-3' exonuclease PLD3
SCA47 Early-onset developmental disability, ataxia, seizure; later-onset ataxia, dysarthria, dysmetria PUM1 Pumilio homolog 1
SCA48 Gait ataxia, cognitive dysfunction in adulthood STUB1 CHIP, an E3 ubiquitin-protein ligase
DRPLA Chorea, seizures, myoclonus, dementia ATN1 CAG repeat, atrophin-1
SCA: spinocerebellar ataxia; MJD: Machado-Joseph disease; DRPLA: dentatorubral pallidoluysian atrophy.
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