Shaw, M., and Caro, A., 1982, The mutation rate to Huntington’s chorea, J. Med. Genet. 19 : 161–167. View ArticleShaw M, Caro A. The mutation rate to Huntington's chorea. J Med Genet. 1982 Jun; 19 (3):161–167.Shaw M, Caro A. The mutation rate to Huntington's chorea....
and McLean Hospital have discovered a surprising mechanism by which the inherited genetic mutation known to cause Huntington's disease leads to the death of brain cells. The findings change the understanding of the fatal neurodegenerative disorder and suggest potential ways to delay or even prevent it...
The causative mutation for Huntington disease (HD), an expanded trinucleotide repeat sequence in the first exon of the huntingtin gene ( HTT ) is naturally polymorphic and inevitably associated with disease symptoms above 39 CAG repeats. Although symptom
The mutation in Huntington disease (HD [MIM 143100; also see The Genome Database [accession number 119307]) is the expansion of a CAG-trinucleotide repeat in the first exon of the HD gene (Huntington Disease Collaborative Research Group 1993). Alleles containing expansions >35 CAG repeats are...
For almost three decades, Huntington's disease has been a prototype for the application of genetic strategies to human disease. HD, the Huntington's disease gene, was the first autosomal defect mapped using only DNA markers, a finding in 1983 that helped
MacDonald, M. E. et al. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington’s disease chromosomes. Cell 72, 971–983 (1993). Google Scholar Amir, R. E. et al. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding...
Huntington’s disease is a progressive neurodegenerative disease caused by mutation of the huntingtin (HTT) gene. The identification of mutation carriers before symptom onset provides an opportunity to intervene in the early stage of the disease course. Optimal biomarkers are of great value to reflect...
The long term goals of this project are to isolate the Huntington's disease (HD) gene, identify the most common mutation in the gene which causes the disease and, ultimately, understand at the molecular level how a mutant allele at this locus produces the neuropathology of the disease in het...
Huntington's Disease Collaborative Research Group A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes Cell, 72 (1993), pp. 971-983 10.1016/0092-8674(93)90585-E 8458085 Google Scholar 4 Sugars K.L., Rubinsztein D.C. Transcriptional abn...
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