[Skip to Navigation]
[Skip to Navigation Landing]
November 1993

Molecular Genetics of Huntington's Disease

Author Affiliations

From the Molecular Neurogenetics Unit, Massachusetts General Hospital (Drs Gusella, MacDonald, Ambrose, and Duyao), and the Department of Genetics (Dr Gusella) and Neurology (Drs MacDonald, Ambrose, and Duyao), Harvard Medical School, Boston, Mass.

Arch Neurol. 1993;50(11):1157-1163. doi:10.1001/archneur.1993.00540110037003

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.