Related Experiment Video
Updated: Jun 12, 2025
07:33
A Simple Composite Phenotype Scoring System for Evaluating Mouse Models of Cerebellar Ataxia
Published on: May 21, 2010
35.6K
CACNA1G Causes Dominantly Inherited Myoclonus-Ataxia with Intellectual Disability: A Case Report
Martina De Riggi1, Agnese De Giorgi1, Luca Pollini1,2
1Department of Human Neurosciences, Sapienza University of Rome, Viale dell'Università, 30, Rome, 00185, Italy.
Cerebellum (London, England)
|September 17, 2024
Summary
Spinocerebellar Ataxia type 42 (SCA42), a rare non-expansion disorder, can present with myoclonus-ataxia and intellectual disability. Genetic analysis identified a novel CACNA1G variant, expanding the known phenotype for this condition.
Area of Science:
- Genetics
- Neurology
- Molecular Biology
Background:
- Spinocerebellar ataxias (SCAs) encompass a group of neurodegenerative disorders with diverse clinical presentations.
- Spinocerebellar Ataxia type 42 (SCA42) is a rare, non-expansion form of SCA, typically associated with progressive cerebellar dysfunction.
Observation:
- A 53-year-old male presented with a clinical picture of progressive myoclonus-ataxia and intellectual disability.
- Genetic investigation revealed a novel variant, c.3835G>A (p.Asp1279Asn), in the CACNA1G gene.
Findings:
- The identified variant is located in CACNA1G, a gene encoding the Ca(V)3.1 T-type calcium channel, implicated in SCA42.
- This novel variant is potentially pathogenic and may alter the function of the calcium channel.
Implications:
- This case broadens the understanding of the phenotypic spectrum associated with CACNA1G mutations.
- Highlights the critical role of genetic screening in diagnosing complex myoclonus-ataxia disorders.
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