CACNA1G Causes Dominantly Inherited Myoclonus-Ataxia with Intellectual Disability: A Case Report
Spinocerebellar ataxias (SCAs) are characterized by substantial phenotypic variability. Among them, SCA42 is a rare non-expansion entity presenting with slowly progressive cerebellar syndrome but whose clinical spectrum may be also wider. A 53-year-old male presented with progressive myoclonus-ataxia and intellectual disability. Genetic screening revealed a novel c.3835G > A (p. Asp1279Asn) variant in the CACNA1G gene. SCA42 is a rare non-expansion SCA caused by mutations in CACNA1G on chromosome 17q21, encoding the Ca(V)3.1, a low-threshold voltage-gated T-type calcium channel. The novel variant we identified is potentially involved in channel activity. This case expands the knowledge regarding CACNA1G-associated phenotype and highlights the importance of genetic screening in myoclonus-ataxia disorders.
Authors
- Giulia Paparella (ORCID: https://orcid.org/0000-0002-7760-9442)
- Alessandra Tessa (ORCID: https://orcid.org/0000-0002-1445-6434)
- Luca Pollini (ORCID: https://orcid.org/0000-0001-9634-6572)
- Daniele Galatolo (ORCID: https://orcid.org/0000-0001-9402-2910)
- Marco Fiorelli (ORCID: https://orcid.org/0000-0003-0235-0146)
- Daniele Birreci (ORCID: https://orcid.org/0009-0004-8000-1886)
- Antonio Cannavacciuolo (ORCID: https://orcid.org/0000-0002-1653-706X)
- Gemma Natale (ORCID: https://orcid.org/0000-0003-2391-1571)
- Matteo Bologna (ORCID: https://orcid.org/0000-0003-0165-0833)
- Serena Galosi (ORCID: https://orcid.org/0000-0002-4717-699X)
- Filippo Maria Santorelli (ORCID: https://orcid.org/0000-0002-1359-9062)
- Luca Angelini (ORCID: https://orcid.org/0000-0002-6601-7476)
- Agnese De Giorgi
- Davide Costa (ORCID: https://orcid.org/0009-0008-6299-4449)
- Martina De Riggi
Institutions
- Istituto Neurologico Mediterraneo (IT)
- Fondazione Stella Maris (IT)
- Fondazione Santa Lucia (IT)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
- Sapienza University of Rome (IT)
Publication Details
- Journal
- The Cerebellum
- Published
- 2024-09-17
- DOI
- https://doi.org/10.1007/s12311-024-01734-6
- Citations
- 1
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.27
Funders
- Ministero della Salute