Molecular genetics of Huntington's disease
J. F. Gusella, M. E. MacDonald, C. M. Ambrose and M. P. Duyao
Molecular Neurogenetics Unit, Massachusetts General Hospital, Boston.
Huntington's disease is an inherited disorder in which selective neuronal
loss in the brain leads to a characteristic choreic movement disorder. The
successful mapping of the Huntington's disease gene to chromosome 4 set off
a torrent of similar studies in other inherited disorders as investigators
attempted to locate and isolate human disease genes with this new approach.
Although it took a decade-long quest since the initial mapping of the
genetic defect, the gene causing Huntington's disease has recently been
isolated. Discovery of the mutational mechanism causing Huntington's
disease has explained some of the peculiarities of inheritance of this
intriguing disorder and creates hope for a better understanding of the
cause of neuronal cell death that could eventually lead to a treatment.
