2012 HDSA 亨廷顿病治疗的内科医师指导意见
A Physician’s Guide to the Management of Huntington’s Disease
2012-04-01
Huntington’s Disease (HD) is a hereditary neurodegenerative disorder caused by anexpansion of a repeating CAG triplet series in the huntingtin gene on chromosome4, which results in a protein with an abnormally long polyglutamine sequence. HD isone of a larger family of polyglutamine repeat disorders, all of which areneurodegenerative diseases. It is inherited in an autosomal dominant fashion, sothat each child of an affected parent has a 50% chance of developing the disease.There is currently no cure or treatment which can halt, slow or reverse theprogression of the disease.The HD gene was identified in 1993. It contains a repeating sequence of three base-pairs, called a “triplet repeat” or “trinucleotide repeat.” An excess number ofCAG repeats in the gene results in a protein containing an excess number ofglutamine units. The normal function of huntingtin is not known, but the expandedpolyglutamine sequence in the huntingtin protein is in some way toxic to brain cells.Just as in other polyglutamine expansion disorders, certain neurons appear to bemore vulnerable to damage in HD. Atrophy is most marked in the corpus striatum ofthe basal ganglia, including the caudate and putamen. In later phases of thedisease, other regions of the brain are also affected.
