title: Complex phenotypes in an Indian family with homozygous SCA2 mutations.
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.
authors.affiliation: Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India.
authors.forename: Mona
authors.initials: M
authors.lastname: Ragothaman
authors.forename: Nagaraja
authors.initials: N
authors.lastname: Sarangmath
authors.forename: Shashi
authors.initials: S
authors.lastname: Chaudhary
authors.forename: Vishwamohini
authors.initials: V
authors.lastname: Khare
authors.forename: Uma
authors.initials: U
authors.lastname: Mittal
authors.forename: Sangeeta
authors.initials: S
authors.lastname: Sharma
authors.forename: Sreelatha
authors.initials: S
authors.lastname: Komatireddy
authors.forename: Subhabrata
authors.initials: S
authors.lastname: Chakrabarti
authors.forename: Mitali
authors.initials: M
authors.lastname: Mukerji
authors.forename: Ramesh C
authors.initials: RC
authors.lastname: Juyal
authors.forename: B K
authors.initials: BK
authors.lastname: Thelma
authors.forename: Uday B
authors.initials: UB
authors.lastname: Muthane
mesh_terms: D000328:Adult; D000368:Aged; D001259:Ataxia / Q000235:genetics; D000067528:Ataxins; D004252:DNA Mutational Analysis; D042622:DNA Repeat Expansion; D006720:Homozygote; D006801:Humans; D007194:India; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins; D020734:Parkinsonian Disorders / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D011506:Proteins / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000235:genetics
chemical_list: D000067528:Ataxins; D009419:Nerve Tissue Proteins; D011506:Proteins