Huntington's disease (HD) is an autosomal-dominant neurodegenerative disorder characterized by motor, cognitive and psychiatric abnormalities. The onset of the disease is usually in the third-fourth decade of life, however 5–10% of subjects become symptomatic before 20 years (“juvenile Huntington's disease”). The disease is caused by an abnormal CAG repeat expansion in exon 1 of the “huntingtin” gene localized on the short arm of chromosome 4. This mutation leads to expression of the mutant huntingtin (mHtt) protein which forms toxic intracellular aggregates that are ubiquitously found in the central nervous system and peripheral tissues [1].
from Journal of the Neurological Sciences https://ift.tt/3fznLKw
from Journal of the Neurological Sciences https://ift.tt/3fznLKw
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