Fragile X premutation alleles in SCA, ET, and parkinsonism in an Asian cohort.
Among 367 subjects, the authors analyzed 167 patients with essential tremor, sporadic progressive cerebellar ataxia, multiple-system atrophy, and atypical parkinsonism and 200 healthy control subjects for FMR1 premutation alleles. None of the subjects carried alleles within the premutation range. These findings suggest that in the absence of other supportive clinical or imaging features, the cost-effectiveness of routine fragile X tremor/ataxia syndrome screening in this Asian cohort with movement disorders was low.
Department of Neurology, Singapore General Hospital, Outram Road, Singapore 169608. gnrtek@sgh.com.sg
E K
EK
Tan
Y
Y
Zhao
K Y
KY
Puong
H Y
HY
Law
L L
LL
Chan
K
K
Yew
C
C
Tan
H
H
Shen
V R
VR
Chandran
M L
ML
Teoh
Y
Y
Yih
R
R
Pavanni
M C
MC
Wong
I S
IS
Ng
D000328:Adult; D000368:Aged; D000483:Alleles; D001921:Brain / Q000473:pathology; D002524:Cerebellar Ataxia / Q000453:epidemiology / Q000235:genetics / Q000473:pathology; D015331:Cohort Studies; D003362:Cost-Benefit Analysis; D004252:DNA Mutational Analysis; D020329:Essential Tremor / Q000453:epidemiology / Q000235:genetics / Q000473:pathology; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D005820:Genetic Testing / Q000191:economics; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009069:Movement Disorders / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D019578:Multiple System Atrophy / Q000453:epidemiology / Q000235:genetics / Q000473:pathology; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010300:Parkinson Disease / Q000453:epidemiology / Q000235:genetics / Q000473:pathology; D016601:RNA-Binding Proteins / Q000235:genetics*; D012846:Singapore / Q000453:epidemiology; D018911:Trinucleotide Repeats
D051860:Fragile X Messenger Ribonucleoprotein 1; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; C497683:FMR1 protein, human