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GTR Home > Conditions/Phenotypes > Spinocerebellar ataxia type 17

Spinocerebellar ataxia type 17

Synonyms
HUNTINGTON DISEASE-LIKE 4; Olivopontocerebellar atrophy 5; Olivopontocerebellar atrophy V; SCA 17; Spinocerebellar Ataxia Type17
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Spinocerebellar Ataxia Type 17
Spinocerebellar ataxia type 17 (SCA17) is characterized by ataxia, dementia, and involuntary movements, including chorea and dystonia. Psychiatric symptoms, pyramidal signs, and rigidity are common. The age of onset ranges from three to 55 years. Individuals with full-penetrance alleles develop neurologic and/or psychiatric symptoms by age 50 years. Ataxia and psychiatric abnormalities are frequently the initial findings, followed by involuntary movement, parkinsonism, dementia, and pyramidal signs. Brain MRI shows variable atrophy of the cerebrum, brain stem, and cerebellum. The clinical features correlate with the length of the polyglutamine expansion but are not absolutely predictive of the clinical course.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Yasuko Toyoshima
Osamu Onodera
Mitsunori Yamada
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Available tests

47 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (47 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GTF2D, GTF2D1, HDL4, SCA17, TBP1, TFIID, TBP
    Summary: TATA-box binding protein

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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Reviews

Clinical resources

Practice guidelines

  • EFNS/ENS, 2014
    EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood.
  • EFNS, 2010
    EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.

Molecular resources

Consumer resources

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