HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS		QUICK SEARCH:   [advanced] Author: Keyword(s): Year:  Vol:  Page:

This Article Full Text (PDF) Correspondence: Submit a response Alert me when this article is cited Alert me when Correspondence are posted Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Sax, D. S. Articles by Myers, R. H. Search for Related Content PubMed PubMed Citation Articles by Sax, D. S. Articles by Myers, R. H.

Phenotypic variation in 2 Huntington's disease families with linkage to chromosome 4

Department of Neurology, Boston University School of Medicine and Boston VA Outpatient Clinic, Boston, MA (Dr. Sax)
Department of Neurology, Massachusetts General Hospital and Ralph Lowell Laboratories, Mailman Research Center, McLean Hospital, Belmont, MA (Dr. Bird)
Department of Genetics, Neurogenetics Laboratory, Massachusetts General Hospital and Harvard Medical School, Boston, MA (Dr. Gusella)
Department of Neurology, Boston University School of Medicine, and Massachusetts General Hospital, Harvard Medical School, Boston, MA. (Dr. Myers)

Variability of expression of the Huntington's disease (HD) gene is illustrated in 2 families with linkage of DNA restriction fragment length polymorphism to the short arm of chromosome 4. In 1 family, affected persons from 3 generations show 50-year variation of onset age. The member with the latest onset age (67) died at 91 with autopsy-confirmed HD. The next generation had hypotonic chorea beginning in the 4th decade with death in the 5th. In the 3rd generation, a rigid patient, inheriting the illness from an affected father, had a much earlier onset at 16, while her siblings had chorea beginning in the 3rd decade. In the 2nd family, several members had cerebellar signs, chorea, and dementia. MRI and CT revealed olivoponto-cerebellar and striatal atrophy. These phenotypes may be the result of different allelic genes at the HD locus or unlinked autosomal modifying loci influencing the expression of the HD gene.

Address correspondence and reprint requests to Dr. Sax, Department of Neurology, Boston University Medical Center, 720 Harrison Avenue, Suite 707, Boston, MA 02118.

Supported in part by NINCDS grant 16367 (Huntington's Disease Center Without Walls) and by NIMH/NINCDS grant 31862 (Brain Bank). Presented in part at the fortieth annual meeting of the American Academy of Neurology, Cincinnati, OH, April 1988.

Received November 14, 1988. Accepted for publication in final form April 11, 1989.

This article has been cited by other articles:

				S. T. Grafton, J. C. Mazziotta, J. J. Pahl, P. St. George-Hyslop, J. L. Haines, J. Gusella, J. M. Hoffman, L. R. Baxter, and M. E. Phelps Serial Changes of Cerebral Glucose Metabolism and Caudate Size in Persons at Risk for Huntington's Disease Arch Neurol, November 1, 1992; 49(11): 1161 - 1167. [Abstract] [PDF]

				L. R. Baxter Jr, J. C. Mazziotta, J. J. Pahl, S. T. Grafton, P. St. George-Hyslop, J. L. Haines, J. F. Gusella, M. P. Szuba, C. E. Selin, B. H. Guze, et al. Psychiatric, Genetic, and Positron Emission Tomographic Evaluation of Persons at Risk for Huntington's Disease Arch Gen Psychiatry, February 1, 1992; 49(2): 148 - 154. [Abstract] [PDF]