Analysis of polyglutamine-coding repeats in the TATA-binding protein in different neurodegenerative diseases

Journal of Neural Transmission
Y R WuC M Chen

Abstract

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.

Citations

Nov 1, 2008·The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques·Jin Whan ChoBeom S Jeon
Apr 18, 2008·The Cerebellum·Giovanni Stevanin, Alexis Brice
Feb 22, 2011·Parkinsonism & Related Disorders·Ji Young YunBeom S Jeon
Dec 17, 2009·Clinica Chimica Acta; International Journal of Clinical Chemistry·Chiung-Mei ChenYih-Ru Wu
Jul 8, 2009·Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia·Q XuB S Tang
Sep 8, 2009·Movement Disorders : Official Journal of the Movement Disorder Society·Christine KleinAnthony E Lang
Sep 25, 2010·Parkinsonism & Related Disorders·Qian XuBeisha Tang
May 12, 2006·Neuroscience Letters·S W LimE K Tan

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