Table 3.

Most Common Hereditary Ataxias (Excluding Nucleotide Repeat Disorders)

Gene 1MOIPhenotypeOther Phenotypic Features / CommentsDesignation / GeneReview / OMIM
AtaxiaSpasticity
AFG3L2 AD++Ophthalmoparesis, slow saccades, ptosis 3SCA28 (OMIM 610246)
ARSCAR5 (OMIM 614487)
ANO10 AR++Downbeat nystagmus, fasciculationsSCAR10 (OMIM 613728)
APTX AR+Early-onset ataxia, oculomotor apraxia, extrapyramidal features, sensorimotor neuropathy, hypoalbuminemia; secondary coenzyme Q10 deficiency (See Primary Coenzyme Q10 Deficiency.)Ataxia with oculomotor apraxia type 1 (OMIM 208920)
ATM AR+Early-onset ataxia, oculomotor apraxia, extrapyramidal features, immunodeficiency, cancer risk, ↑ alphafetoprotein Ataxia-Telangiectasia
CACNA1A 2AD+Episodic ataxia type 2 (OMIM 108500)
ITPR1 AD+Adult onset, slowly progressiveSCA15/16 (OMIM 606658)
AD 3+Congenital, non-progressiveSCA29 (OMIM 117360)
KCNC3 AD 3+Adult onset, slowly progressive SCA13
Congenital, non-progressive
KCND3 4AD+SCA19/22 (OMIM 605411)
PRKCG AD+ SCA14
SACS AR++Early-onset ataxia w/spastic paraparesis & axonal-demyelinating sensorimotor neuropathy; hypointense pontine stripes on T2-weighted MRI 5ARSACS (SPAX6)
SETX 6AR++Early-onset ataxia, oculomotor apraxia w/↑ alpha-fetoprotein 5Ataxia with Oculomotor Apraxia Type 2 (SCAR1)
SPG7 AR++Variable spasticity & cerebellar ataxia 5 Spastic Paraplegia 7
SPTBN2 AD+SCA5 (OMIM 600224)
ARSCAR14 (OMIM 615386)
SYNE1 7AR++Cerebellar ataxia, variable spasticity, & further multisystemic neurologic damage 5ARCA1 (SCAR8) (See SYNE1 Deficiency.)

AD = autosomal dominant; ARCA = autosomal recessive cerebellar ataxia; MOI = mode of inheritance; SCA = spinocerebellar ataxia; SCAR = spinocerebellar ataxia, autosomal recessive; SPAX = spastic ataxia, autosomal recessive

1.

Genes are listed in alphabetic order.

2.
3.

The disorder may occur as the result of a de novo pathogenic variant.

4.

Allelic disorder: Brugada syndrome

5.
6.
7.

Allelic phenotype: arthrogryposis multiplex congenita (See SYNE1 Deficiency.)

From: Hereditary Ataxia Overview

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