Spinocerebellar ataxia (SCA) summary of key features

Evidence-based neurology checklist on spinocerebellar ataxia (sca) summary of key features: 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 SCA3 SCA4 SCA5 SCA6 SCA7 SCA8…

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

SCA3

SCA4

SCA5

SCA6

SCA7

SCA8

SCA9

SCA10

SCA11

SCA12

SCA13

SCA14

SCA15

SCA16

SCA17

SCA18

SCA19

SCA20

SCA21

SCA22

SCA23

SCA24

SCA25

SCA26

SCA27

SCA28

SCA29

SCA30

SCA31

SCA32

SCA33

SCA34

SCA35

SCA36

SCA37

SCA38

SCA39

SCA40

SCA41

SCA42

SCA43

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.
  6. And 0 more. Subscribe to see the full list

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