Literature DB >> 18307262

Huntington's disease as caused by 34 CAG repeats.

Jürgen Andrich1, Larissa Arning, Stefan Wieczorek, Peter H Kraus, Ralf Gold, Carsten Saft.   

Abstract

Huntington's disease (HD) is an autosomal dominantly inherited neurodegenerative disorder caused by an abnormal expansion of a polymorphic stretch of CAG repeats in the coding 5' part of the HD gene on chromosome 4p. Expansions of CAG blocks beyond 35 repeats are associated with the clinical presentation of HD. There is an intermediate range of rare alleles between 27 and 35 CAG repeats with a higher risk for further expansion in subsequent generations. Here, we report a 75-year-old male with clinical features of HD and 34 CAG repeat units. (c) 2008 Movement Disorder Society.

Entities:  

Mesh:

Year:  2008        PMID: 18307262     DOI: 10.1002/mds.21958

Source DB:  PubMed          Journal:  Mov Disord        ISSN: 0885-3185            Impact factor:   10.338


  16 in total

1.  Post pump chorea in a 77-year-old male.

Authors:  Carsten Saft; Delawer Reber; Monika Streuer; Jürgen Andrich
Journal:  Neurol Sci       Date:  2011-04-16       Impact factor: 3.307

2.  Clinical utility gene card for: Huntington's disease.

Authors:  Carsten Saft; Blair R Leavitt; Jörg T Epplen
Journal:  Eur J Hum Genet       Date:  2013-10-09       Impact factor: 4.246

3.  Phenotype Characterization of HD Intermediate Alleles in PREDICT-HD.

Authors:  Nancy R Downing; Spencer Lourens; Isabella De Soriano; Jeffrey D Long; Jane S Paulsen
Journal:  J Huntingtons Dis       Date:  2016-12-15

Review 4.  Genetics and neuropathology of Huntington's disease.

Authors:  Anton Reiner; Ioannis Dragatsis; Paula Dietrich
Journal:  Int Rev Neurobiol       Date:  2011       Impact factor: 3.230

5.  "Grasping the grey": patient understanding and interpretation of an intermediate allele predictive test result for Huntington disease.

Authors:  A Semaka; L G Balneaves; M R Hayden
Journal:  J Genet Couns       Date:  2012-08-18       Impact factor: 2.537

Review 6.  Huntington's Disease: Relationship Between Phenotype and Genotype.

Authors:  Yi-Min Sun; Yan-Bin Zhang; Zhi-Ying Wu
Journal:  Mol Neurobiol       Date:  2016-01-07       Impact factor: 5.590

7.  Comment on Clinical Profile of Genetically Proven Huntington's Disease Patients From Eastern India.

Authors:  Gustavo L Franklin; Carlos Henrique Camargo; Alex T Meira; Hélio A G Teive
Journal:  Ann Indian Acad Neurol       Date:  2020-06-24       Impact factor: 1.383

Review 8.  Advances in the pharmacological management of Huntington's disease.

Authors:  Samuel Frank; Joseph Jankovic
Journal:  Drugs       Date:  2010-03-26       Impact factor: 9.546

9.  Estimating the probability of de novo HD cases from transmissions of expanded penetrant CAG alleles in the Huntington disease gene from male carriers of high normal alleles (27-35 CAG).

Authors:  Audrey E Hendricks; Jeanne C Latourelle; Kathryn L Lunetta; L Adrienne Cupples; Vanessa Wheeler; Marcy E MacDonald; James F Gusella; Richard H Myers
Journal:  Am J Med Genet A       Date:  2009-07       Impact factor: 2.802

10.  Late onset Huntington Disease: clinical and genetic characteristics of 34 cases.

Authors:  Hillary Lipe; Thomas Bird
Journal:  J Neurol Sci       Date:  2008-10-31       Impact factor: 3.181

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.