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Table 1 Proposed new list of autosomal recessive ataxias

From: Systematic review of autosomal recessive ataxias and proposal for a classification

Disorder Gene OMIM Additional clinical features and neuroimaging findings Relevant references
CTX CYP27A1 213700 Dementia, paresis, tendon xanthomas, atherosclerosis, cataracts, elevated cholestanol level, childhood onset, variable cerebellar atrophy, cerebellar or cerebral leukodystrophy [17, 18]
AVED TTPA 277460 Retinitis pigmentosa, head titubation, low serum vitamin E, teenage onset, spinal cord atrophy, absence of cerebellar atrophy [19, 20]
AT ATM 208900 Telangiectasias, oculomotor apraxia, photosensitivity, immunodeficiency, predisposition for cancer, elevation of α-foetoprotein, infantile onset, cerebellar atrophy [21, 22]
FRDA FXN 229300 Bilateral Babinski sign, square-wave jerks, scoliosis, hypertrophic cardiomyopathy, sensory involvement, teenage onset, spinal cord atrophy, absence of cerebellar atrophy [5, 23]
ATLD MRE11 604391 Oculomotor apraxia, childhood onset, cerebellar atrophy [24, 25]
ARSACS SACS 270550 Spastic paraparesis, retinal striation, pes cavus, infantile or childhood onset, anterior superior cerebellar atrophy, occasional T2-weighted linear hypointensities in pons [26, 27]
AOA1/EAOH APTX 208920 Oculomotor apraxia, cognitive impairment, hypoalbuminemia, hypercholesterolemia, childhood onset, cerebellar atrophy [28, 29]
SCAN1 TDP1 607250 Peripheral axonal sensorimotor neuropathy, distal muscular atrophy, hypercholesterolemia, teenage onset, cerebellar atrophy [30, 31]
Cayman ataxia ATCAY 601238 Psychomotor retardation, hypotonia, strabism, neonatal onset, cerebellar hypoplasia [32, 33]
SANDO or MIRAS/SCAE POLG1 607459 In SANDO, sensory ataxia, ophtalmoparesis, myoclonus, ptosis, adult onset, variable cerebellar atrophy, cerebellar white matter lesions, strokelike lesions. In MIRAS, cerebellar and sensitive ataxia, epilepsy, migraine, myoclonus, childhood or teenage onset, signal abnormalities in cerebellum and thalamus [34, 35]
AOA2 SETX 606002 Polyneuropathy, pyramidal signs, oculomotor apraxia, head tremor, chorea, dystonia, elevation of α-foetoprotein, teenage onset, cerebellar atrophy [36, 37]
CAMRQ1, DES VLDLR 224050 Non-progressive cerebellar ataxia, mental retardation, hypotonia, strabismus, occasional quadripedal gait, congenital onset, inferior cerebellar hypoplasia, cortical gyral simplification [38, 39]
IOSCA/MTDPS7 (Allelic to PEOA3) C10orf2 271245 Athetosis, hypotonia, optic atrophy, ophtalmoplegia, hearing loss, epilepsy, hypogonadism, liver involvement, infantile onset, moderate atrophy of brainstem and cerebellum with advancing disease [40, 41]
MSS SIL1 248800 Cataracts, mental retardation, myopathy, short stature, childhood onset, cerebellar atrophy [42, 43]
DCMA/MGCA5 DNAJC19 610198 Dilated cardiomyopathy, non-progressive cerebellar ataxia, mental retardation, testicular dysgenesis, anemia, increased urinary 3-methylglutaconic acid, infantile onset [44, 45]
ARCA1 SYNE1 610743 Pure cerebellar ataxia, cognitive impairment, occasional pyramidal signs, late onset, cerebellar atrophy [46, 47]
ARCA2 ADCK3 (CABC1) 612016 Exercise intolerance, epilepsy, myoclonus, cognitive impairment, childhood onset, cerebellar atrophy, occasional strokelike cerebral lesions [48, 49]
SeSAME syndrome KCNJ10 612780 Epilepsy, sensorineural deafness, mental retardation, tubulopathy and electrolyte imbalance, infantile onset, absence of cerebellar atrophy [50, 51]
CAMRQ3 CA8 613227 Mild mental retardation, occasional quadrupedal gait, congenital onset, cerebellar atrophy, white matter abnormalities [52, 53]
Salih ataxia/SCAR15 (1 family) KIAA0226 615705 Epilepsy, mental retardation, childhood onset, absence of cerebellar atrophy [54, 55]
PHARC ABHD12 612674 Sensorimotor neuropathy, cataract, hearing loss, retinitis pigmentosa, teenage onset, variable cerebellar atrophy [56, 57]
SPAX4 (1 family) MTPAP 613672 Spastic paraparesis, optic atrophy, cognitive involvement, infantile onset [58, 59]
ARCA3 ANO10 613728 Cognitive impairment, downbeat nystagmus, teenage or adult onset, cerebellar atrophy [60, 61]
SCAR11 (1 family) SYT14 614229 Psychomotor retardation, late onset, cerebellar atrophy [62]
CAMRQ2 WDR81 610185 Occasional quadrupedal gait, cognitive impairment, congenital onset, hypoplasia of cerebellum and corpus callosum [63, 64]
AOA3 (1 family) PIK3R5 615217 Oculomotor apraxia, sensorimotor involvement, teenage onset, cerebellar atrophy [65]
SCAR13 GRM1 614831 Cognitive impairment, mild pyramidal signs, short stature, seizures, congenital onset, cerebellar atrophy [66, 67]
CAMRQ4 (1 family) ATP8A2 615268 Cognitive impairment, occasional quadrupedal gait, congenital onset, cerebellar and cerebral atrophy [68]
SCAR7 (Allelic to CLN2) TPP1 609270 Pyramidal signs, posterior column involvement, tremor, childhood onset, atrophy of the cerebellum and pons [69, 70]
Ataxia and hypogonadotropism RNF216 212840 Hypogonadotropic hypogonadism, dementia, occasional chorea, childhood to young adult onset, cerebellar and cerebral atrophy [71, 72]
SCAR18 GRID2 616204 Tonic upgaze, psychomotor retardation, retinal dystrophy, infantile onset, cerebellar atrophy [73, 74]
SCAR16 STUB1 615768 Pyramidal signs, neuropathy, occasional hypogonadism, variable age at onset, cerebellar atrophy [75, 76]
SCAR12 WWOX 614322 Tonic-clonic epilepsy, mental retardation, spasticity, neonatal to childhood onset, variable cerebellar or cerebral atrophy [77, 78]
ATLD2 (1 family) PCNA 615919 Telangiectasias, sensorineural hearing loss, photosensitivity, cognitive impairment, short stature, childhood onset, cerebellar atrophy [79]
SCAR20 SNX14 616354 Mental retardation, sensorineural hearing loss, macrocephaly, dysmorphism, infantile onset, cerebellar atrophy [80, 81]
SCAR17 CWF19L1 616127 Mental retardation, congenital onset, cerebellar hypoplasia [82, 83]
ACPHD (1 family) DNAJC3 616192 Diabetes mellitus, UMN signs, demyelinating neuropathy, sensorineural hearing loss, childhood to adult onset, generalized supra- and infratentorial atrophy [84]
LIKNS/SCAR19 (1 family) SLC9A1 616291 Sensorineural hearing loss, childhood onset, variable vermian atrophy [85]
AOA4 (Allelic to MCSZ) PNKP 616267 Dystonia, oculomotor apraxia, polyneuropathy, cognitive impairment, childhood onset, cerebellar atrophy [86, 87]
SCAR2 PMPCA 213200 Non-progressive cerebellar ataxia, cognitive impairment, pyramidal signs, short stature, congenital or infantile onset, cerebellar atrophy [88, 89]
SCAR21 SCYL1 616719 Liver failure, peripheral neuropathy, mild cognitive impairment, childhood onset, cerebellar vermis atrophy, thinning of optic nerve [90]
SCAR22 (1 family) VWA3B 616948 Cognitive impairment, pyramidal signs, adult onset, cerebellar atrophy and thin corpus callosum [91]
SCAR23 (1 family) TDP2 616949 Tonic seizures, cognitive impairment, dysmorphism, childhood onset [92]
SCAR24 (1 family) UBA5 617133 Cataracts, peripheral neuropathy, childhood onset, cerebellar atrophy [93]
Cerebellar ataxia with developmental delay (1 family) THG1L - Psychomotor retardation, pyramidal signs, childhood onset, vermis hypoplasia [94]
  1. ACPHD Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, AOA ataxia with oculomotor apraxia, ARCA autosomal recessive cerebellar ataxia, ARSACS autosomal recessive spastic ataxia of Charlevoix-Saguenay, AT ataxia-telangiectasia, ATLD ataxia-telangiectasia-like disorder, AVED ataxia with vitamin E deficiency, CA Cayman ataxia, CAMOS cerebellar ataxia mental retardation optic atrophy and skin abnormalities, CAMRQ cerebellar ataxia mental retardation with or without quadrupedal locomotion, DCMA Dilated cardiomyopathy with ataxia, DES Desequilibrium syndrome, EAOH early-onset ataxia with oculomotor apraxia and hypoalbuminemia, FRDA Friedreich ataxia, IOSCA infantile onset spinocerebellar ataxia, LIKNS Lichtenstein-Knorr syndrome, MGCA5 3-methyglutaconic aciduria type 5, MIRAS mitochondrial recessive ataxia syndrome, MCSZ Microchephaly seizures developmental delay, MSS Marinesco-Sjogren syndrome, MTDPS7 mitochondrial DNA depletion syndrome 7, PEOA3 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, PHARC polyneuropathy hearing loss ataxia retinitis pigmentosa and cataract, SANDO sensory ataxic neuropathy with dysarthria and ophthalmoparesis, SCAE spinocerebellar ataxia with epilepsy, SCAN1 spinocerebellar ataxia with axonal neuropathy 1, SCAR Spinocerebellar ataxia, autosomal recessive, SeSAME Seizures sensorineural deafness ataxia mental retardation and electrolyte imbalance, SPAX spastic ataxia, UMN upper motor neuron