Complex phenotypes in an Indian family with homozygous SCA2 mutations - PubMed (original) (raw)

Case Reports

doi: 10.1002/ana.10815.

Nagaraja Sarangmath, Shashi Chaudhary, Vishwamohini Khare, Uma Mittal, Sangeeta Sharma, Sreelatha Komatireddy, Subhabrata Chakrabarti, Mitali Mukerji, Ramesh C Juyal, B K Thelma, Uday B Muthane

Affiliations

Case Reports

Complex phenotypes in an Indian family with homozygous SCA2 mutations

Mona Ragothaman et al. Ann Neurol. 2004 Jan.

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.

PubMed Disclaimer

Publication types

MeSH terms

Substances

LinkOut - more resources