Sentence examples for repeat disorders from inspiring English sources

Trinucleotide repeat disorders are severe, usually life-shortening, neurological disorders caused by nucleotide expansions, and most have no disease-modifying treatments.

HD is one of several trinucleotide repeat disorders which are caused by the length of a repeated section of a gene exceeding a normal range.

Recent studies have revealed a role for RNA in the pathogenesis of the dominantly inherited non-coding repeat disorders [5], [8], [9].

It is also known that the production of hairpin loops in triplet repeat DNA is a potential mechanism underlying repeat instability, which is a feature of triplet repeat disorders such as HD [2], [20], [51], [52].

While CAG repeat disorders such as HD typically have a relatively short (<80) CAG repeat that causes disease, there are several studies showing that CAG repeat instability can generate CAG repeat lengths of greater than 300 in individual cells [10], [13].

Thus, the drug discovery strategy outlined in this report has significant clinical import, as C. elegans has been used to model several protein misfolding disorders including Alzheimer's disease [60], frontotemporal dementia with parkinsonism chromosome 17 type [61], Parkinson's disease [62], polyglutamine repeat disorders [63] and amyotrophic lateral sclerosis [64].

Huntington's disease (HD) is a progressive and fatal neurodegenerative disease, and the most common inherited CAG repeat disorder.

SCA1 is a trinucleotide repeat disorder in which the expanded polyglutamine mutation in the protein ataxin-1 primarily targets Purkinje cells of the cerebellum.

SCA7 is also a polyglutamine repeat disorder.

SBMA is a polyglutamine repeat disorder caused by the expansion of a CAG trinucleotide repeat in the N-terminal region of the androgen receptor (AR).

Neuronal c9RAN protein inclusions were not seen in the nine FTD/ALS matched control cases, or in the four trinucleotide repeat disorder cases.