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 …

Trinucleotide repeat expansion is increasingly recognized as a cause of neurogenetic
diseases. To date, seven diseases have been identified as expanded repeat disorders: the …

Tandem repeats represent one of the most abundant class of variations in human genomes,
which are polymorphic by nature and become highly unstable in a length-dependent …

Expansion of trincleotide repeats is now recognized as a major cause of neurological
disease. At least seven disorders result from trinucleotide repeat expansion: X‐linked spinal …

Repeat expansion mutations cause at least 22 inherited neurological diseases. The
complexity of repeat disease genetics and pathobiology has revealed unexpected shared …

Trinucleotide, or triplet, repeats consist of 3 nucleotides consecutively repeated (eg, CCG
CCG CCG CCG CCG) within a region of DNA, a not uncommon motif in the genome of …

Background Repeat expansion disorders affect about 1 in 3000 individuals and are clinically
heterogeneous diseases caused by expansions of short tandem DNA repeats. Genetic …

Several human disorders are now known to be caused by expansion of unstable tri‐
nucleotide repeat sequences, including fragile X syndrome (FRAX), myotonic dystrophy …

Fragile X mental retardation and Friedreich's ataxia were among the first pathogenic
trinucleotide repeat disorders to be described in which noncoding repeat expansions …

Most neurodegenerative disorders are thought to result primarily from the accumulation of
misfolded proteins, which interfere with protein homeostasis in neurons. For a subset of …