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GTR Home > Conditions/Phenotypes > Spinocerebellar ataxia type 14

Spinocerebellar ataxia type 14

Synonyms
Spinocerebellar Ataxia Type14
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Spinocerebellar Ataxia Type 14
Spinocerebellar ataxia type 14 (SCA14) is characterized by slowly progressive cerebellar ataxia, dysarthria, and nystagmus. Axial myoclonus, cognitive impairment, tremor, and sensory loss may also be observed. Parkinsonian features including rigidity and tremor have been described in some families. Findings seen in other ataxia disorders (e.g., dysphagia, dysphonia) may also occur in SCA14. The average age of onset is in the 30s, with a range from childhood to the seventh decade. Life span is not shortened.
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:
Dong-Hui Chen
Thomas D Bird
Wendy H Raskind
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Available tests

40 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (40 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: PKC-gamma, PKCC, PKCG, PKCI(3), PKCgamma, SCA14, PRKCG
    Summary: protein kinase C gamma

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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