Spinocerebellar ataxia type 2 presenting as familial levodopa-responsive parkinsonism.
A genetic analysis identified 2 patients, approximately one-tenth of our patients with familial parkinsonism, who had expanded trinucleotide repeats in SCA2 genes. The reduction of 18F-dopa distribution in both the putamen and caudate nuclei confirmed that the nigrostriatal dopaminergic system was involved in parkinsonian patients with SCA2 mutation.
Shan
D E
DE
Neurological Institute, Taipei Veterans General Hospital, Taiwan, ROC. deshan@vghtpe.gov.tw
Soong
B W
BW
Sun
C M
CM
Lee
S J
SJ
Liao
K K
KK
Liu
R S
RS
D000328:Adult; D000368:Aged; D000067528:Ataxins; D001921:Brain / Q000000981:diagnostic imaging / Q000378:metabolism / Q000503:physiopathology; D002681:China; D005260:Female; D005462:Fluorine Radioisotopes / Q000378:metabolism; D005684:Gait; D006801:Humans; D007980:Levodopa / Q000031:analogs & derivatives / Q000378:metabolism*; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins; D020734:Parkinsonian Disorders / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree; D011506:Proteins / Q000235:genetics*; D020754:Spinocerebellar Ataxias / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D014055:Tomography, Emission-Computed; D018911:Trinucleotide Repeats / Q000235:genetics*
D000067528:Ataxins; D005462:Fluorine Radioisotopes; D009419:Nerve Tissue Proteins; D011506:Proteins; D007980:Levodopa