Article
Complex phenotypes in an Indian family with homozygous SCA2 mutations.
Annals of neurology - 1 Jan 2004
Ragothaman Mona, Sarangmath Nagaraja, Chaudhary Shashi, Khare Vishwamohini, Mittal Uma, Sharma Sangeeta, Komatireddy Sreelatha, Chakrabarti Subhabrata, Mukerji Mitali, Juyal Ramesh C, Thelma B K, Muthane Uday B
Abstract excerpt
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...
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