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Typically striking around age 40, HD causes uncontrolled movements, cognitive deficits, and emotional disturbances. Neurons degenerate in certain brain regions. The disease is inevitable if a person inherits a mutant copy of the HD gene in which the first exon contains 40 or more consecutive CAG repeats, each encoding the amino acid glutamine. According to one prominent theory, the gene product, mutant huntingtin (mHTT), folds differently than its wild-type counterpart (the function of which is unknown). As a result, mHTT is cleaved and migrates from the cell's cytoplasm to its nucleus.
What happens next has ...
