Background: Spinocerebellar ataxias (SCA) are a group of rare hereditary neurodegenerative disorders. Rare cases of two SCA mutations in the same individual have been reported in the literature, however, family descriptions are lacking. Aims: To characterize a family with combined SCA2 and SCA10 mutations. Materials & Methods: Analysis of the clinical features and genetic findings of a Bolivian family expressing both SCA2 and SCA10 mutations. Results: The index case and his mother had both SCA2 and SCA10 mutations with a combined clinical phenotype of both disorders, including slow saccades (SCA2) and seizures (SCA10). The uncle of the index case had only an SCA10 mutation. Discussion: Although the presence of two SCA mutations in the same individuals may be coincidental, the low probability of having both mutations suggests that these mutations might be particularly prevalent in Bolivian population. Conclusion: This is the first description of a family with two SCA mutations with affected subjects having a combined SCA2 and SCA10 phenotype.
- spinocerebellar ataxia type 10
- spinocerebellar ataxia type 2
- spinocerebellar ataxias
ASJC Scopus subject areas
- Clinical Neurology