Abstract
Huntington’s disease (HD) is a dominantly transmitted progressive neurodegenerative disorder due to an abnormal elongation of the polyglutamine (polyQ) chain in the Huntington (Htt) protein. Children of HD gene carriers have a 50% chance of inheriting the disease.The loss of medium GABAergic spiny neurons, and specific neuronal loss in layers V and VI of the cerebral cortex lead to the decline in motor, cognitive and psychiatric functions.In HD the number of CAG repeats play a major role in the gene, hence the disease is termed as “trinucleotide repeat” disorder. The present study focussed on prevalence and expanded CAG repeats on Huntington disease in Indian population. Repeats of 26 and smaller are normal,repeats between 27 and 35 are not associated with disease expression but may expand in paternal transmission,40 or larger are associated with disease expression, Intermediate repeats of 36–39 are associated with reduced penetrance. Age of onset (AOS) at disease diagnosis is associated with length of the expanded gene mutation, such that individuals with longer repeat lengths have a younger age at diagnosis. The identification of the genetic defect in HD permits direct genetic testing for the presence of the gene alteration responsible for the disease.
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