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Updated: May 30, 2026
08:51
Cerebellar Regional Dissection for Molecular Analysis
Published on: December 5, 2020
Spinocerebellar ataxia type 14
Dong-Hui Chen1, Wendy H Raskind, Thomas D Bird
1Department of Neurology, University of Washington, Seattle, WA, USA.
Handbook of Clinical Neurology
|August 11, 2011
Summary
Spinocerebellar ataxia type 14 (SCA14) is an inherited condition causing cerebellar degeneration. Mutations in the PRKCG gene are responsible, and genetic testing is available.
Area of Science:
- Neurology
- Genetics
- Molecular Biology
Background:
- Spinocerebellar ataxia type 14 (SCA14) is an autosomal dominant hereditary ataxia.
- Typically presents in early to mid-adulthood with slow progression and a normal lifespan.
- Characterized by cerebellar symptoms like gait imbalance, dysarthria, and nystagmus, with occasional sensory loss or cognitive decline.
Purpose of the Study:
- To describe the clinical and pathological features of SCA14.
- To identify the genetic cause of SCA14.
- To highlight the availability of genetic testing for diagnosis.
Main Methods:
- Clinical observation and neurological examination.
- Brain Magnetic Resonance Imaging (MRI) for structural changes.
- Genetic analysis to identify mutations in the PRKCG gene.
Main Results:
- Brain MRI reveals cerebellar atrophy.
- Autopsy findings show loss of cerebellar Purkinje cells.
- Mutations in the protein kinase C gamma (PKCγ, PRKCG) gene, particularly in exon 4, are identified as the cause.
Conclusions:
- SCA14 is caused by mutations in the PRKCG gene.
- The disease manifests as cerebellar degeneration with characteristic clinical and imaging findings.
- Genetic testing for SCA14 is clinically accessible for diagnosis.
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