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Spinocerebellar ataxia type 11

Synonyms
Spinocerebellar Ataxia Type11
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Spinocerebellar Ataxia Type 11
Spinocerebellar ataxia type 11 (SCA11) is characterized by progressive cerebellar ataxia and abnormal eye signs (jerky pursuit, horizontal and vertical nystagmus). Pyramidal features are seen on occasion. Peripheral neuropathy and dystonia are rare. Six families have been reported to date, one each from the UK, Pakistan, France, Germany, Denmark, and China. Age of onset ranged from early childhood to the mid-40s. Life span is thought to be normal.
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:
Zhongbo Chen
Arina Puzriakova
Henry Houlden
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Available tests

30 tests are in the database for this condition.

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Clinical tests (30 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: SCA11, TTBK, TTBK2
    Summary: tau tubulin kinase 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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