Analysis of polyglutamine-coding repeats in the TATA-binding protein in different neurodegenerative diseases.
Trinucleotide repeat (TNR) expansion in the gene for TATA binding protein (TBP) has recently been described as causal for spinocerebellar ataxia type 17. The normal number of repeats has been considered to be 42 or less. An intermediate range with reduced penetrance has been assumed to be 43-47 CAA/CAG repeats. We examined this gene in 30 patients with autosomal-dominant cerebellar ataxia (ADCA), 35 patients with sporadic ataxia, 11 patients with Huntington's disease (HD), 351 patients with idiopathic Parkinson's disease (PD), 105 patients with Alzheimer's disease (AD), and 291 controls with no history of neurodegenerative disease. Three patients (one with sporadic PD and two with AD) carrying more than 42 TNRs in the TBP gene were identified. This reveals that the phenotype associated with CAG/CAA expansion in the TBP gene may be heterogeneous.
Wu
Y R
YR
Second Department of Neurology, Chang Gung Memorial Hospital and College of Medicine, Chang-Gung University, 199 Tung Hwa North Road, Taipei, Taiwan.
Fung
H C
HC
Lee-Chen
G J
GJ
Gwinn-Hardy
K
K
Ro
L S
LS
Chen
S T
ST
Hsieh-Li
H M
HM
Lin
H Y
HY
Lin
C Y
CY
Li
S N
SN
Chen
C M
CM
D000368:Aged; D000544:Alzheimer Disease / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D001921:Brain / Q000378:metabolism* / Q000473:pathology / Q000503:physiopathology; D002524:Cerebellar Ataxia / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D006816:Huntington Disease / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D019636:Neurodegenerative Diseases / Q000235:genetics* / Q000378:metabolism* / Q000503:physiopathology; D010300:Parkinson Disease / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D010455:Peptides / Q000235:genetics*; D010641:Phenotype; D035181:TATA-Box Binding Protein / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*
D010455:Peptides; D035181:TATA-Box Binding Protein; C097188:polyglutamine