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. (2004) Complex phenotypes in an Indian family with homozygous SCA2 mutations Annals of Neurology, 55 (1). pp. 130-133. ISSN 0364-5134
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Official URL: http://onlinelibrary.wiley.com/doi/10.1002/ana.108...
Related URL: http://dx.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.
| Item Type: | Article |
|---|---|
| Source: | Copyright of this article belongs to John Wiley and Sons. |
| ID Code: | 103439 |
| Deposited On: | 13 Mar 2017 10:12 |
| Last Modified: | 05 Jul 2017 12:51 |
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