Russell L Margolis1, Christopher A Ross. 1. Laboratory of Genetic Neurobiology, Division of Neurobiology, Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA. rmargoli@jhmi.edu
Abstract
BACKGROUND: Huntington disease (HD) is a rare, progressive, and fatal autosomal dominant neurodegenerative disorder, typically of adult onset. METHODS: We reviewed the literature concerning the molecular diagnosis of HD. RESULTS: The discovery of the genetic etiology of HD, a trinucleotide expansion mutation on chromosome 4p, has led to the development of increasingly reliable and valid diagnostic tests that can be applied to symptomatic patients, individuals at risk for HD but currently asymptomatic, fetuses, and embryos. However, the unstable nature of the HD mutation, the lack of effective treatments for HD, the mid-adulthood age of disease onset, and the existence of disorders with the same clinical presentation but different etiology all complicates diagnostic testing. CONCLUSION: Conscientious laboratory work, knowledgeable interpretation of genetic test results, and the availability of pre- and posttest counseling are essential components of HD diagnosis.
BACKGROUND:Huntington disease (HD) is a rare, progressive, and fatal autosomal dominant neurodegenerative disorder, typically of adult onset. METHODS: We reviewed the literature concerning the molecular diagnosis of HD. RESULTS: The discovery of the genetic etiology of HD, a trinucleotide expansion mutation on chromosome 4p, has led to the development of increasingly reliable and valid diagnostic tests that can be applied to symptomatic patients, individuals at risk for HD but currently asymptomatic, fetuses, and embryos. However, the unstable nature of the HD mutation, the lack of effective treatments for HD, the mid-adulthood age of disease onset, and the existence of disorders with the same clinical presentation but different etiology all complicates diagnostic testing. CONCLUSION: Conscientious laboratory work, knowledgeable interpretation of genetic test results, and the availability of pre- and posttest counseling are essential components of HD diagnosis.
Authors: Zhihong Guo; Gay Rudow; Olga Pletnikova; Kari-Elise Codispoti; Brent A Orr; Barbara J Crain; Wenzhen Duan; Russell L Margolis; Adam Rosenblatt; Christopher A Ross; Juan C Troncoso Journal: Mov Disord Date: 2012-09-13 Impact factor: 10.338
Authors: Gloria S Yen; Bryant S Fujimoto; Thomas Schneider; Jason E Kreutz; Daniel T Chiu Journal: J Am Chem Soc Date: 2019-01-15 Impact factor: 15.419
Authors: Monica Bañez-Coronel; Fatma Ayhan; Alex D Tarabochia; Tao Zu; Barbara A Perez; Solaleh Khoramian Tusi; Olga Pletnikova; David R Borchelt; Christopher A Ross; Russell L Margolis; Anthony T Yachnis; Juan C Troncoso; Laura P W Ranum Journal: Neuron Date: 2015-11-18 Impact factor: 17.173