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Related Experiment Video

Updated: Jul 16, 2026

Mutagenesis and Analysis of Genetic Mutations in the GC-rich KISS1 Receptor Sequence Identified in Humans with Reproductive Disorders

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Published on: September 4, 2011

PRKCG mutation (SCA-14) causing a Ramsay Hunt phenotype.

Jasper E Visser¹, Bastiaan R Bloem, Bart P C van de Warrenburg

¹Department of Neurology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands. j.visser@neuro.umcn.nl

Movement Disorders : Official Journal of the Movement Disorder Society

|March 9, 2007

Summary

Progressive myoclonic ataxia can be caused by PRKCG gene mutations, leading to spinocerebellar ataxia type 14 (SCA-14). This genetic condition may present with myoclonus and dystonia, expanding the known clinical spectrum of SCA-14.

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Area of Science:

Genetics
Neurology
Molecular Biology

Background:

Progressive myoclonic ataxia (PMA), or Ramsay Hunt syndrome, involves myoclonus, cerebellar ataxia, and sometimes seizures.
Differential diagnosis of PMA includes progressive myoclonic epilepsy, but identifying specific causes in PMA is challenging.
Spinocerebellar ataxias (SCAs) are a group of inherited neurodegenerative disorders affecting balance and coordination.

Observation:

A patient presented with multifocal myoclonus in his thirties, later developing cerebellar ataxia and focal dystonia.
The patient's father exhibited a similar clinical presentation.
Genetic analysis identified a mutation in the protein kinase C gamma (PRKCG) gene.

Findings:

The identified PRKCG gene mutation is known to cause spinocerebellar ataxia type 14 (SCA-14).
This case demonstrates that myoclonus and dystonia are part of the clinical spectrum of SCA-14.
Myoclonus can be the initial presenting symptom in SCA-14.

Implications:

SCA-14 should be considered in the differential diagnosis of progressive myoclonic ataxia.
Understanding the expanded clinical phenotype of SCA-14 aids in diagnosing patients with unexplained myoclonic and ataxic syndromes.
Genetic testing for PRKCG mutations can improve diagnostic yield in patients with features of PMA.