title: The parkinsonian phenotype of spinocerebellar ataxia type 3 in a Taiwanese family.
abstract: 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.
authors.affiliation: Movement Disorders Unit, First Department of Neurology, Chang Gung Memorial Hospital and School of Medicine, Chang Gung University, Kweishan, Tao-Yuan, Taiwan.
authors.forename: Chin-Song
authors.initials: CS
authors.lastname: Lu
authors.forename: Hsiu-Chen
authors.initials: HC
authors.lastname: Chang
authors.forename: Pei-Chi
authors.initials: PC
authors.lastname: Kuo
authors.forename: Yu-Lun
authors.initials: YL
authors.lastname: Liu
authors.forename: Wen-Shiang
authors.initials: WS
authors.lastname: Wu
authors.forename: Yi-Hsin
authors.initials: YH
authors.lastname: Weng
authors.forename: Tzu-Chen
authors.initials: TC
authors.lastname: Yen
authors.forename: Yah-Huei Wu
authors.initials: YH
authors.lastname: Chou
mesh_terms: 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
chemical_list: D015609:Organotechnetium Compounds; D019275:Radiopharmaceuticals; D014326:Tropanes; C104196:technetium Tc 99m TRODAT-1