Clinical and MRI findings in spinocerebellar ataxia type 5
Abstract
Article abstract Spinocerebellar ataxia type 5 (SCA5), one of the genetically heterogeneous autosomal dominant cerebellar ataxias, was assigned to chromosome 11 in a single family descending from the grandparents of President Abraham Lincoln. We report a second, apparently unrelated, SCA5 family of French origin. The overall clinical picture was a slowly progressive cerebellar syndrome beginning mostly in the third decade (27 ± 10 years, range 14 to 40). MRI showed a marked global cerebellar atrophy similar to SCA6.
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© 1999.
Publication History
Received: April 12, 1999
Accepted: June 17, 1999
Published online: October 1, 1999
Published in print: October 1, 1999
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- Spectrins: molecular organizers and targets of neurological disorders, Nature Reviews Neuroscience, 24, 4, (195-212), (2023).https://doi.org/10.1038/s41583-022-00674-6
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- Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration, International Journal of Molecular Sciences, 22, 5, (2505), (2021).https://doi.org/10.3390/ijms22052505
- Two novel missense variants in SPTBN2 likely associated with spinocerebellar ataxia type 5, Neurological Sciences, 42, 12, (5195-5203), (2021).https://doi.org/10.1007/s10072-021-05204-3
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- Autosomal Recessive Cerebellar Ataxias, Handbook of the Cerebellum and Cerebellar Disorders, (2465-2482), (2021).https://doi.org/10.1007/978-3-030-23810-0_100
- A novel case of congenital spinocerebellar ataxia 5: further support for a specific phenotype associated with the p.(Arg480Trp) variant in SPTBN2 , BMJ Case Reports, 13, 12, (e238108), (2020).https://doi.org/10.1136/bcr-2020-238108
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