Spinocerebellar ataxia (SCA) summary of key features

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Spinocerebellar ataxia (SCA) summary of key features. This is caused by mutations in the ataxin 1 (ATXN1) gene on chromosome 6p.

SCA1

  • This is caused by mutations in the ataxin 1 (ATXN1) gene on chromosome 6p
  • This is a CAG repeat expansion disorder
  • It causes ophthalmoplegia and hypometric saccades

SCA2

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SCA3

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SCA4

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SCA5

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SCA6

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SCA7

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SCA8

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SCA9

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SCA10

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SCA11

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SCA12

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SCA13

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SCA14

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SCA15

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SCA16

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SCA17

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SCA18

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SCA19

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SCA20

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SCA21

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SCA22

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SCA23

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SCA24

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SCA25

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SCA26

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SCA27

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SCA28

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SCA29

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SCA30

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SCA31

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SCA32

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SCA33

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SCA34

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SCA35

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SCA36

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SCA37

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SCA38

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SCA39

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SCA40

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SCA41

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SCA42

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SCA43

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References

  1. Whaley NR, Fujioka S, Wszolek ZK. Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics. Orphanet J Rare Dis 2011; 6:33.
  2. Bhidayasiri R, Waters MF, Giza CC. Neurological differential diagnosis. A Prioritized Approach. Blackwell Publishing Massachusetts 2005 p206-207.
  3. Manto MU. The wide spectrum of spinocerebellar ataxia. The Cerebellum 2005; 4:2-6.
  4. Gasser T, Finstererb J, Baetsc J, et al. EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. Eur J Neurol 2010, 17:179–188.
  5. Kim JS, Kim JS, Youn J, et al. Ocular motor characteristics of different subtypes of spinocerebellar ataxia: distinguishing features. Mov Disord 2013; 28:1271-1277.

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