Absence of unidentified CAG repeat expansion in patients with Huntington's disease-like phenotype

Vuillaume, I.; Meynieu, P.; Schraen-Maschke, S.; Destée, A.; Sablonnière, B.
May 2000
Journal of Neurology, Neurosurgery & Psychiatry;May2000, p672
Academic Journal
No abstract available.


Related Articles

  • Spinocerebellar ataxia 17 (SCA17) and Huntington�s disease-like 4 (HDL4). Stevanin, Giovanni; Brice, Alexis // Cerebellum;Jun2008, Vol. 7 Issue 2, p170 

    Spinocerebellar ataxia 17 (SCA17) or Huntington�s disease-like-4 is a neurodegenerative disease caused by the expansion above 44 units of a CAG/CAA repeat in the coding region of the TATA box binding protein (TBP) gene leading to an abnormal expansion of a polyglutamine stretch in the...

  • Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington's disease-like phenotype.  // Journal of Medical Genetics;Mar2004, Vol. 41 Issue 3, p230 

    Examines the trinucleotide repeat expansion in SCA17/TBP in patients with Huntington's disease (HD)-like phenotye. Facts about HD; Existence of an overlap between SCA17 phenotypes and HD-like phenotypes; Detection of nine pathological CAA/CAG repeat expansions.

  • A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease?like 2. Holmes, Susan E.; O'Hearn, Elizabeth; Rosenblatt, Adam; Callahan, Colleen; Hwang, Hyon S.; Ingersoll-Ashworth, Roxann G.; Fleisher, Adam; Stevanin, Giovanni; Brice, Alexis; Potter, Nicholas T.; Ross, Christopher A.; Margolis, Russell L. // Nature Genetics;Dec2001, Vol. 29 Issue 4, p377 

    We recently described a disorder termed Huntington disease-like 2 (HDL2) that completely segregates with an unidentified CAG/CTG expansion in a large pedigree (W). We now report the cloning of this expansion and its localization to a variably spliced exon of JPH3 (encoding junctophilin-3), a...

  • Analysis of polyglutamine-coding repeats in the TATA-binding protein in different neurodegenerative diseases. Wu, Y. R.; Fung, H. C.; Lee-Chen, G. J.; Gwinn-Hardy, K.; Ro, L. S.; Chen, S. T.; Hsieh-Li, H. M.; Lin, H. Y.; Lin, C. Y.; Li, S. N.; Chen, C. M. // Journal of Neural Transmission;Apr2005, Vol. 112 Issue 4, p539 

    Trinucleotide repeat (TNR) expansion in the gene for TATA binding protein (TBP) has recently been described as causal for spinocerebellar ataxia type 17. The normal number of repeats has been considered to be 42 or less. An intermediate range with reduced penetrance has been assumed to be 43-47...

  • Late-onset Huntington disease with intermediate CAG repeats: true or false? Groen, Justus L.; de Bie, Rob M. A.; Foncke, Elisabeth M. J.; Roos, Raymund A. C.; Leenders, Klaus L.; Tijssen, Marina A. J. // Journal of Neurology, Neurosurgery & Psychiatry;Feb2010, Vol. 81 Issue 2, p228 

    Huntington disease (HD) is a neurodegenerative disorder associated with an expanded CAG trinucleotide repeat length in the huntingtin gene. 'Intermediate alleles with 27 to 35 CAG repeats generally do not cause HD but are unstable upon germ-line transmission. Insights in CAG repeat mosaicism and...

  • HD CAGnome: A Search Tool for Huntingtin CAG Repeat Length-Correlated Genes. Galkina, Ekaterina I.; Shin, Aram; Coser, Kathryn R.; Shioda, Toshi; Kohane, Isaac S.; Seong, Ihn Sik; Wheeler, Vanessa C.; Gusella, James F.; MacDonald, Marcy E.; Lee, Jong-Min // PLoS ONE;Apr2014, Vol. 9 Issue 4, p1 

    Background: The length of the huntingtin (HTT) CAG repeat is strongly correlated with both age at onset of Huntington’s disease (HD) symptoms and age at death of HD patients. Dichotomous analysis comparing HD to controls is widely used to study the effects of HTT CAG repeat expansion....

  • GFP-Based Fluorescence Assay for CAG Repeat Instability in Cultured Human Cells. Santillan, Beatriz A.; Moye, Christopher; Mittelman, David; Wilson, John H. // PLoS ONE;Nov2014, Vol. 9 Issue 11, p1 

    Trinucleotide repeats can be highly unstable, mutating far more frequently than point mutations. Repeats typically mutate by addition or loss of units of the repeat. CAG repeat expansions in humans trigger neurological diseases that include myotonic dystrophy, Huntington disease, and several...

  • Counting CAG repeats in the Huntington�s disease gene by restriction endonuclease EcoP15I cleavage. M�ncke-Buchner, Elisabeth; Reich, Stefanie; M�cke, Merlind; Reuter, Monika; Messer, Walter; Wanker, Erich E.; Kr�ger, Detlev H. // Nucleic Acids Research;Aug2002, Vol. 30 Issue 16, pe83 

    Huntington�s disease (HD) is a progressive neurodegenerative disorder with autosomal-dominant inheritance. The disease is caused by a CAG trinucleotide repeat expansion located in the first exon of the HD gene. The CAG repeat is highly polymorphic and varies from 6 to 37 repeats on...

  • Msh2Acts in Medium-Spiny Striatal Neurons as an Enhancer of CAG Instability and Mutant Huntingtin Phenotypes in Huntington's Disease Knock-In Mice. Kovalenko, Marina; Dragileva, Ella; St. Claire, Jason; Gillis, Tammy; Guide, Jolene R.; New, Jaclyn; Hualing Dong; Kucherlapati, Raju; Kucherlapati, Melanie H.; Ehrlich, Michelle E.; Jong-Min Lee; Wheeler, Vanessa C.; Hoyt, Kari // PLoS ONE;Sep2012, Vol. 7 Issue 9, Special section p1 

    The CAG trinucleotide repeat mutation in the Huntington's disease gene (HTT) exhibits age-dependent tissue-specific expansion that correlates with disease onset in patients, implicating somatic expansion as a disease modifier and potential therapeutic target. Somatic HTT CAG expansion is...

  • Delayed identification and diagnosis of Huntington's disease due to psychiatric symptoms. Pascu, Alina Mihaela; Ifteni, Petru; Teodorescu, Andreea; Burtea, Victoria; Correll, Christoph U. // International Journal of Mental Health Systems;Aug2015, Vol. 9 Issue 1, p1 

    Huntington's disease (HD) is a progressive neurodegenerative illness that affects 2–9/100.000 of the general population. The usual onset is at around age 35–40 years, but there were cases with onset above 55 years. The disease manifests clinically with many neurological and...


Read the Article


Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics