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Spinocerebellar ataxia type 2

Synonyms
CEREBELLAR DEGENERATION WITH SLOW EYE MOVEMENTS; OLIVOPONTOCEREBELLAR ATROPHY II; Olivopontocerebellar atrophy 2; Olivopontocerebellar atrophy Holguin type; SCA 2; SPINOCEREBELLAR ATROPHY II; Spinocerebellar ataxia Cuban type; Spinocerebellar ataxia with slow eye movements; Spinocerebellar atrophy 2; Wadia Swami syndrome
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Spinocerebellar Ataxia Type 2
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.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
References
Chapter Notes
Authors:
Stefan M Pulst
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Available tests

62 tests are in the database for this condition.

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Clinical tests (62 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ATX2, SCA2, TNRC13, ATXN2
    Summary: ataxin 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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