Huntington's disease: A decade beyond gene discovery

被引:7
作者
Penelope Hogarth
机构
[1] Oregon Health and Science University, Portland, OR 97239-3098
关键词
Huntington Disease; Riluzole; Mutant Huntingtin; Remacemide; Total Functional Capacity;
D O I
10.1007/s11910-003-0003-3
中图分类号
学科分类号
摘要
Huntington's disease is a dominantly inherited neurodegenerative disease that causes a progressive movement disorder, cognitive decline, and varying degrees of psychiatric dysfunction. The identification of the mutant gene in 1993 paved the way for a decade of basic research. The resultant advances in our understanding of the pathogenesis of the disorder are moving us toward rational therapies to slow the progression and delay the onset of the illness. Copyright © 2003 by Current Science Inc.
引用
收藏
页码:279 / 284
页数:5
相关论文
共 46 条
[1]  
Huntington G., On chorea, The Medical & Surgical Reporter, 26, pp. 320-321, (1872)
[2]  
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes, Cell, 72, pp. 971-983, (1993)
[3]  
Schoenfeld M., Myers R.H., Cupples L.A., Et al., Increased rate of suicide among patients with Huntington's disease, J. Neurol. Neurosurg. Psychiatry, 47, pp. 1283-1287, (1984)
[4]  
Folstein S.E., Chase G.A., Wahl W.E., Et al., Huntington disease in Maryland: Clinical aspects of racial variation, Am. J. Hum. Genet., 41, pp. 168-179, (1987)
[5]  
Lipe H., Schultz A., Bird T.D., Risk factors for suicide in Huntington's disease: A retrospective case controlled study, Am. J. Med. Genet., 48, pp. 231-233, (1993)
[6]  
Rosenblatt A., Leroi I., Neuropsychiatry of Huntington's disease and other basal ganglia disorders, Psychosomatics, 41, pp. 24-30, (2000)
[7]  
Rubinsztein D.C., Leggo J., Coles R., Et al., Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats, Am. J. Hum. Genet., 59, pp. 16-22, (1996)
[8]  
Almquist E., Elterman D., MacLeod P., Hayden M., High incidence rate and absent family histories in one quarter of patients newly diagnosed with Huntington disease in British Columbia, Clin. Neurogenet., 60, pp. 198-205, (2001)
[9]  
Rubinsztein D.C., Amos W., Leggo J., Et al., Mutational bias provides a model for the evolution of Huntington's disease and predicts a general increase in disease prevalence, Nat. Genet., 7, pp. 525-530, (1994)
[10]  
Panas M., Avramopoulos D., Karadima G., Et al., Apolipoprotein E and presenilin-1 genotypes in Huntington's disease, J. Neurol., 246, pp. 574-577, (1999)