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A
late but variable age onset lethal human disease of nerve degeneration.
Inherited as an autosomal dominant phenotype. Shows imprinting individuals
inheriting HD from their father show significantly earlier onset than
those inheriting a maternal allele. Shows genetic anticipation, in
that the severity increase and age of onset decreases in affected
individuals of later generations in a pedigree. The HD gene, encoding
a protein called huntingtin, has been cloned. |
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