Repetitive elements in the human genome, once considered 'junk DNA', are now known to
adopt more than a dozen alternative (that is, non-B) DNA structures, such as self-annealed …

More than 40 diseases, most of which primarily affect the nervous system, are caused by
expansions of simple sequence repeats dispersed throughout the human genome …

Early-onset torsion dystonia is a movement disorder, characterized by twisting muscle
contractures, that begins in childhood. Symptoms are believed to result from altered …

Transgenic mice expressing exon 1 of the human Huntington's disease (HD) gene carrying
a 141–157 CAG repeat (line R6/2) develop a progressive neurological phenotype with …

Expanded polyglutamine repeats have been proposed to cause neuronal degeneration in
Huntington's disease (HD) and related disorders, through abnormal interactions with other …

Objective: The objective of the Predict-HD study is to use genetic, neurobiological and
refined clinical markers to understand the early progression of Huntington's disease (HD) …

We compared the number of CAG repeats, the age at death, and the severity of
neuropathology in 89 Huntington's disease brains. We found a linear correlation between …

The mechanism of neurodegeneration in CAG/polyglutamine repeat expansion diseases is
unknown but is thought to occur at the protein level. Here, in studies of spinocerebellar …

Huntington's disease (HD) is an inherited, neurodegenerative disorder caused by the
expansion of a glutamine repeat in the N-terminus of the huntingtin protein. To gain insight …

Two forms of the neurodegenerative disorder spinocerebellar ataxia are known to be
caused by the expansion of a CAG (polyglutamine) trinucleotide repeat. By screening cDNA …