Complex phenotypes in an Indian family with homozygous SCA2 mutations
| Autor: | Mitali Mukerji, Ramesh C. Juyal, Sangeeta Sharma, Sreelatha Komatireddy, Shashi Chaudhary, Subhabrata Chakrabarti, Vishwamohini Khare, B.K. Thelma, Uday B. Muthane, Uma Mittal, Nagaraja Sarangmath, Mona Ragothaman |
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| Rok vydání: | 2004 |
| Předmět: |
Proband
Adult Male congenital hereditary and neonatal diseases and abnormalities Ataxia DNA Mutational Analysis India Nerve Tissue Proteins Biology medicine.disease_cause Asymptomatic Parkinsonian Disorders Retinitis pigmentosa medicine Humans Aged Genetics Mutation DNA Repeat Expansion Parkinsonism Homozygote Proteins Middle Aged medicine.disease Phenotype nervous system diseases Pedigree Neurology Ataxins Spinocerebellar ataxia Neurology (clinical) medicine.symptom Retinitis Pigmentosa |
| Zdroj: | Annals of neurology. 55(1) |
| ISSN: | 0364-5134 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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