Table 1 Proposed new list of autosomal recessive ataxias

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]