PMID: 8581556Sep 1, 1995Paper

Origins and evolution of Huntington disease chromosomes

Neurodegeneration : a Journal for Neurodegenerative Disorders, Neuroprotection, and Neuroregeneration
S E Andrew, M R Hayden

Abstract

Huntington disease (HD) is one of five neurodegenerative disorders resulting from an expansion of a CAG repeat located within the coding portion of a novel gene. CAG repeat expansion beyond a particular repeat size has been shown to be a specific and sensitive marker for the disease. A strong inverse correlation is evident between CAG length and age of onset. Sporadic cases of HD have been shown to arise from intermediate sized alleles in the unaffected parent. The biochemical pathways underlying the relationship between CAG repeat length and specific cell death are not yet known. However, there is an increasing understanding of how and why specific chromosomes and not others expand into the disease range. Haplotype analysis has demonstrated that certain normal chromosomes, with CAG lengths at the high range of normal, are prone to further expansion and eventually result in HD chromosomes. New mutations preferentially occur on normal chromosomes with these same haplotypes associated with higher CAG lengths. The distribution of different haplotypes on control chromosomes in different populations is thus one indication of the frequency of new mutations for HD within that population. Analysis of normal chromosomes in different pop...Continue Reading

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Citations

Jan 21, 2011·European Journal of Human Genetics : EJHG·Simon C WarbyMichael R Hayden
Jul 17, 2015·Clinical Genetics·R M CastilhosUNKNOWN Rede Neurogenética
Feb 7, 2015·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Eliana Marisa RamosIsabel Alonso
Sep 25, 2010·Journal of the Neurological Sciences·Mingyi MaSizhong Zhang
Dec 11, 2007·Archives of Medical Research·Saeid MorovvatiAli Karami
May 21, 2009·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·A SemakaM R Hayden
Sep 17, 2013·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Alicia SemakaMichael R Hayden
Oct 4, 2011·Parkinsonism & Related Disorders·Emilia GattoGustavo Fretchel
Mar 3, 2009·American Journal of Human Genetics·Simon C WarbyMichael R Hayden
Aug 3, 2016·Neurological Research·Jing YangHui-Fang Shang
Feb 21, 2018·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Chris KayMichael R Hayden
Oct 12, 2012·Journal of Human Genetics·Luciana de A AgostinhoCarmen L A Paiva
May 16, 2019·Neurology. Genetics·Susanna YlönenKari Majamaa

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