SCA2 may present as levodopa-responsive parkinsonism.
Some kindreds with familial parkinsonism exhibit genetic anticipation, suggesting possible involvement of trinucleotide repeat expansion. Recent reports have shown trinucleotide repeat expansions in the spinocerebellar ataxia 2 (SCA2) gene in patients with levodopa-responsive parkinsonism. We tested 136 unrelated patients with familial parkinsonism for SCA2 mutations. Two probands had borderline mutations; the rest were normal. (<or=31 repeats is normal, 32-35 is borderline, >or=36 is pathogenic). The expanded allele segregated with neurological signs in one kindred. The absence of borderline mutations in the normal population, and the co-segregation of the expanded allele with neurological signs in one kindred suggest that SCA2 mutations may be responsible for a subset of familial parkinsonism.
Payami
Haydeh
H
Department of Neurology, Oregon Health and Science University, Portland, Oregon, USA. hpayami@wadsorth.org
Nutt
John
J
Gancher
Steven
S
Bird
Thomas
T
McNeal
Melissa Gonzales
MG
Seltzer
William K
WK
Hussey
Jennifer
J
Lockhart
Paul
P
Gwinn-Hardy
Katrina
K
Singleton
Amanda A
AA
Singleton
Andrew B
AB
Hardy
John
J
Farrer
Matthew
M
D000328:Adult; D000368:Aged; D000483:Alleles; D020132:Anticipation, Genetic / Q000235:genetics; D000978:Antiparkinson Agents / Q000009:adverse effects / Q000627:therapeutic use*; D000067528:Ataxins; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006801:Humans; D007980:Levodopa / Q000009:adverse effects / Q000627:therapeutic use*; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins; D009460:Neurologic Examination; D010300:Parkinson Disease / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D020734:Parkinsonian Disorders / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D011506:Proteins / Q000235:genetics*; D016896:Treatment Outcome; D018911:Trinucleotide Repeats
D000978:Antiparkinson Agents; D000067528:Ataxins; D009419:Nerve Tissue Proteins; D011506:Proteins; D007980:Levodopa