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Spinocerebellar ataxia type 2

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Description

Spinocerebellar ataxia type 2 (SCA2) is characterized by progressive cerebellar ataxia, including nystagmus, slow saccadic eye movements, and in some individuals, ophthalmoparesis or parkinsonism. Pyramidal findings are present; deep tendon reflexes are brisk early on and absent later in the course. Age of onset is typically in the fourth decade with a ten- to 15-year disease duration.

GeneReviews

  • Mode of Inheritance

  • Autosomal dominant inheritance
  • Autosomal recessive inheritance
  • Genetic anticipation

VARIANTS

8

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Genes

External Links

  • OMIM

    183090

    271322

  • Orphanet

    98756

  • HPO
  • Medgen

    C0752121

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