Literature DB >> 17115386

Autopsy-proven Huntington's disease with 29 trinucleotide repeats.

Christopher Kenney1, Suzanne Powell, Joseph Jankovic.   

Abstract

Huntington's disease (HD) is a neurodegenerative disorder associated with expansion of CAG trinucleotide repeats in the huntingtin gene. A minimum of 36 CAG repeats is usually reported in patients with clinical features of HD; 30 to 35 repeats represent an intermediate range. Here we report a 65-year-old male with autopsy-proven HD and 29 CAG repeats. Copyright 2006 Movement Disorder Society.

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Year:  2007        PMID： 17115386     DOI： 10.1002/mds.21195

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


  24 in total

1.  A Case of Previously Unsuspected Huntington Disease Diagnosed at Autopsy.

Authors:  Catherine R Miller; Nobby C Mambo; Jianli Dong; Gerald A Campbell
Journal:  Acad Forensic Pathol       Date:  2017-03-01

Review 2.  Diagnosis and treatment of chorea syndromes.

Authors:  Andreas Hermann; Ruth H Walker
Journal:  Curr Neurol Neurosci Rep       Date:  2015       Impact factor: 5.081

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

4.  HD CAG-correlated gene expression changes support a simple dominant gain of function.

Authors:  Jessie C Jacobsen; Gillian C Gregory; Juliana M Woda; Morgan N Thompson; Kathryn R Coser; Vidya Murthy; Isaac S Kohane; James F Gusella; Ihn Sik Seong; Marcy E MacDonald; Toshi Shioda; Jong-Min Lee
Journal:  Hum Mol Genet       Date:  2011-05-02       Impact factor: 6.150

Review 5.  Genetics and neuropathology of Huntington's disease.

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

6.  "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 7.  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

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

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

10.  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
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