SCA1 |
Pyramidal signs, peripheral neuropathy |
ATXN1
|
CAG repeat, ataxin-1 |
SCA2 |
Slow saccades; less often myoclonus, areflexia |
ATXN2
|
CAG repeat, ataxin-2 |
SCA3 |
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 5ʼ region, protein phosphatase 2A |
SCA13 |
Mental retardation |
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
|
Voltage-gated potassium channel Kv4.3 |
SCA20 |
Palatal tremor and dysphonia |
11q12 |
|
SCA21 |
Extrapyramidal signs |
7p21.3-p15.1 |
|
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 |
19p13.3 |
|
SCA27 |
Cognitive impairment |
FGF14
|
Fibroblast growth factor 14 |
SCA28 |
Ophthalmoparesis and ptosis |
AFG3L2
|
Catalytic subunit of the mitochondrial AAA protease |
SCA29 |
Early onset, non-progressive 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 |
6p12.3-q16.2 |
|
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 |
Adult onset, axonal neuropathy |
ELOVL5
|
|
SCA40 |
Adult onset, brisk reflexed, spasticity |
CCDC88C
|
|