Complex phenotypes in an Indian family with homozygous SCA2 mutations
- 30 December 2003
- journal article
- case report
- Published by Wiley in Annals of Neurology
- Vol. 55 (1) , 130-133
- https://doi.org/10.1002/ana.10815
Abstract
We describe a consanguineous Indian family having spinocerebellar ataxia type 2 (SCA2) expansions with complex phenotypes (early‐onset, dopa‐responsive parkinsonism, ataxia and retinitis pigmentosa). The two probands having homozygous SCA2 mutations presenting with early‐onset dopa‐responsive parkinsonism without ataxia develop dyskinesias within a year of starting levodopa. Their siblings, heterozygous for SCA2 mutations, had retinitis pigmentosa with or without ataxia. Approximately 38% of family members with SCA2 mutations were asymptomatic.Keywords
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