The parkinsonian phenotype of spinocerebellar ataxia type 3 in a Taiwanese family.
We report a parkinsonian phenotype of spinocerebellar ataxia type 3 (SCA3) in three female sibs from one Taiwanese family, found in a genetic analysis of 60 patients from 49 families with familial parkinsonism. Initially, all three patients presented with early onset resting tremor, rigidity, bradykinesia, and good response to levodopa. In the later stages, peripheral neuropathy developed in one sib and mild ataxia in another one. Decreased concentration of dopamine transporter in the striatum was demonstrated by (99m)Tc-TRODAT-1 SPECT imaging in the two sibs studied. Therefore, SCA3 should be considered as an important etiology of familial parkinsonism.
Lu
Chin-Song
CS
Movement Disorders Unit, First Department of Neurology, Chang Gung Memorial Hospital and School of Medicine, Chang Gung University, Kweishan, Tao-Yuan, Taiwan.
Chang
Hsiu-Chen
HC
Kuo
Pei-Chi
PC
Liu
Yu-Lun
YL
Wu
Wen-Shiang
WS
Weng
Yi-Hsin
YH
Yen
Tzu-Chen
TC
Chou
Yah-Huei Wu
YH
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D005192:Family Health; D005260:Female; D006801:Humans; D017827:Machado-Joseph Disease / Q000000981:diagnostic imaging* / Q000235:genetics / Q000503:physiopathology*; D008297:Male; D008875:Middle Aged; D015609:Organotechnetium Compounds; D020734:Parkinsonian Disorders / Q000000981:diagnostic imaging* / Q000235:genetics / Q000503:physiopathology*; D010375:Pedigree; D010641:Phenotype; D019275:Radiopharmaceuticals; D013624:Taiwan; D015899:Tomography, Emission-Computed, Single-Photon; D014326:Tropanes
D015609:Organotechnetium Compounds; D019275:Radiopharmaceuticals; D014326:Tropanes; C104196:technetium Tc 99m TRODAT-1