A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes

A review of central 5-HT receptors and their function

https://www.thelancet.com/pdfs/journals/lancet/PIIS0140-6736(07)60111-1.pdf

Huntington's disease.

Many late-onset neurodegenerative diseases, including Parkinson's disease and Huntington's disease, are associated with the formation of intracellular aggregates by toxic proteins. It is therefore crucial to understand the factors that regulate the steady-state levels of these 'toxins', at both the synthetic and degradation stages. The degradation pathways acting on such aggregate-prone cytosolic proteins include the ubiquitin-proteasome system and macroautophagy. Dysfunction of the ubiquitin-proteasome or macroautophagy pathways might contribute to the pathology of various neurodegenerative conditions. However, enhancing macroautophagy with drugs such as rapamycin could offer a tractable therapeutic strategy for a number of these diseases.

The roles of intracellular protein-degradation pathways in neurodegeneration

Huntington's disease (HD) is associated with the expansion of a CAG trinucleotide repeat in a novel gene. We have assessed 360 HD individuals from 259 unrelated families and found a highly significant correlation (r = 0.70, p = 10(-7)) between the age of onset and the repeat length, which accounts for approximately 50% of the variation in the age of onset. Significant associations were also found between repeat length and age of death and onset of other clinical features. Sib pair and parent-child analysis revealed that the CAG repeat demonstrates only mild instability. Affected HD siblings had significant correlations for trinucleotide expansion (r = 0.66, p < 0.001) which was not apparent for affected parent-child pairs.

The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease

ted by both sexes. Each child of an afflicted parent has a 50 percent chance of inheriting the disease. This risk continues uninterrupted from one generation to the next. Occasionally, a parent dies before the age when the symptoms characteristically appear, and this may give the impression, incorrectly, that Huntington's disease has skipped a generation(2). The age of onset of symptoms is extraordinarily inconsistent. Although most individuals first develop symptoms between the ages of 30 and 40 years, symptoms can occur between 20 and 60, a span of four decades. Rare cases have been

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Huntington's disease.