Early-onset phenotype in a patient with an intermediate allele and a large SCA1 expansion: a case report
We report a rare case of spinocerebellar ataxia type 1 with an intermediate allele and a large SCA1 expansion. The determination of the absence of CAT interruption brought crucial information concerning this molecular diagnosis, the prediction of the disease and had practical consequences for genetic counseling.
Authors
- Eugénie Mutez (ORCID: https://orcid.org/0000-0002-5947-0432)
- Guillaume Baille (ORCID: https://orcid.org/0000-0002-0248-5772)
- Vincent Huin (ORCID: https://orcid.org/0000-0001-8201-5406)
- Anna Wissocq (ORCID: https://orcid.org/0009-0004-8942-9811)
- Pauline Planté‐Bordeneuve
- Nicolas Geoffre (ORCID: https://orcid.org/0009-0002-4569-2015)
Institutions
- Inserm (FR)
- Université de Lille (FR)
- Institut Pasteur de Lille (FR)
- Centre Hospitalier Universitaire de Lille (FR)
- Centre Hospitalier Saint-Denis (FR)
Publication Details
- Journal
- BMC Neurology
- Published
- 2024-09-17
- DOI
- https://doi.org/10.1186/s12883-024-03846-2
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Development of Innovative Strategies for a Transdisciplinary approach to ALZheimer's disease
- Université de Lille
- Association France Parkinson
- Centre hospitalier régional universitaire de Lille