Complex phenotypes in an Indian family with homozygous SCA2 mutations.
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.
Ragothaman
Mona
M
Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India.
Sarangmath
Nagaraja
N
Chaudhary
Shashi
S
Khare
Vishwamohini
V
Mittal
Uma
U
Sharma
Sangeeta
S
Komatireddy
Sreelatha
S
Chakrabarti
Subhabrata
S
Mukerji
Mitali
M
Juyal
Ramesh C
RC
Thelma
B K
BK
Muthane
Uday B
UB
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
D000067528:Ataxins; D009419:Nerve Tissue Proteins; D011506:Proteins