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- Title
Bolivian kindred with combined spinocerebellar ataxia types 2 and 10.
- Authors
Baizabal‐Carvallo, J. F.; Xia, G.; Botros, P.; Laguna, J.; Ashizawa, T.; Jankovic, J.
- Abstract
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.
- Subjects
KINDRED; ATAXIA; COACH syndrome; MOVEMENT disorders; SPINOCEREBELLAR ataxia; CEREBELLAR ataxia; CEREBELLUM degeneration; SPINAL cord diseases
- Publication
Acta Neurologica Scandinavica, 2015, Vol 132, Issue 2, p139
- ISSN
0001-6314
- Publication type
Article
- DOI
10.1111/ane.12371