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Complex Phenotypes in an Indian Family with Homozygous SCA2 Mutations
M. Ragothaman, N. Sarangmath, S. Chaudhary, V. Khare, U. Mittal, S. Sharma, S. Komatireddy, S. Chakrabarti, , R.C. JuyalShow More
Published in
PMID: 14705123
Volume: 55
Issue: 1
Pages: 130 - 133
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.
About the journal
JournalAnnals of Neurology