A growing number of neurodegenerative diseases have been found to result from the
expansion of an unstable trinucleotide repeat. Over the past 6 years, researchers have …

Polyglutamine (polyQ) sequences of unknown normal function are present in a significant
number of proteins, and their repeat expansion is associated with a number of genetic …

Abnormal CAG expansions in the IT-15 gene are associated with Huntington disease (HD).
In the diagnostic setting it is necessary to define the limits of the CAG size ranges on normal …

Intensive scientific research devoted in the recent years to understand the molecular
mechanisms or neurodegeneration in spinocerebellar ataxias (SCAs) are identifying new …

Major advances have been made in the understanding of autosomal dominant cerebellar
ataxias since genetic markers came into use in the 1980s. The subsequent mapping of nine …

Models for the disease-associated expansion of trinucleotide repeats involve the
participation of alternative DNA structures during replication, repair, or recombination. CAT …

Abstract Huntington's disease (HD)(OMIM 143100) is caused by an expanded CAG repeat
tract in the HTT gene. The inherited CAG length is known to expand further in somatic and …

The hereditary ataxias are clinically and genetically very heterogeneous. They are mainly
characterized by gait and limb ataxia, dysarthria, a variable degree of oculomotor …

At least nine dominant neurodegenerative diseases are caused by expansion of CAG
repeats in coding regions of specific genes that result in abnormal elongation of …

Spinocerebellar ataxia type 1 (SCA1) is an adult-onset neurodegenerative disease caused
by a polyglutamine expansion in the protein ATXN1, which is involved in transcriptional …