title: Genetic and DAT imaging studies of familial parkinsonism in a Taiwanese cohort.
abstract: We here summarize the results of genetic investigations on a series of 82 parkinsonian patients from 60 families in Taiwan. We found 13 parkin patients in 7 families (12%), 2 PINK1 sibs from 1 family, and 1 LRRK2 patient from 1 family with I2012T mutation. We also identified SCA2 in 8 patients from 5 families (8%) and SCA3 in 3 patients from 1 family, all presenting with parkinsonian phenotype. In the available patients with parkin, PINK1, SCA2 and SCA3, the dopamine transporter (DAT) scan revealed that the reduction of uptake was primarily observed in the bilateral putamen, basically sharing a similar pattern with that in idiopathic Parkinson's disease. We concluded that the genetic causes contributed to about 25% of our series of familial parkinsonism. The parkin mutations and SCA2 were the most frequent genetic causes in our series with Chinese ethnicity. The results of DAT scan indicated that bilateral putamen was essentially involved in various genetically-caused familial parkinsonism.
authors.affiliation: Movement Disorders Section, Department of Neurology and Neuroscience Research Center, Human Molecular Genetic Laboratory, Chang Gung Memorial Hospital and Chang Gung University, Taiwan. c81214@adm.cgmh.org.tw
authors.forename: C S
authors.initials: CS
authors.lastname: Lu
authors.forename: Y H Wu
authors.initials: YH
authors.lastname: Chou
authors.forename: Y H
authors.initials: YH
authors.lastname: Weng
authors.forename: R S
authors.initials: RS
authors.lastname: Chen
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D015331:Cohort Studies; D050483:Dopamine Plasma Membrane Transport Proteins / Q000378:metabolism*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D017072:Neostriatum / Q000000981:diagnostic imaging; D015609:Organotechnetium Compounds; D010300:Parkinson Disease / Q000000981:diagnostic imaging* / Q000235:genetics*; D019275:Radiopharmaceuticals; D013624:Taiwan; D015899:Tomography, Emission-Computed, Single-Photon; D014326:Tropanes
chemical_list: D050483:Dopamine Plasma Membrane Transport Proteins; D015609:Organotechnetium Compounds; D019275:Radiopharmaceuticals; D014326:Tropanes; C104196:technetium Tc 99m TRODAT-1