CAG/CTG repeat expansions at the Huntington's disease-like 2 locus are rare in Huntington's disease patients

Neurology
G StevaninAlexis Brice

Abstract

The authors report a large series of patients with Huntington disease (HD)-like phenotype without CAG repeat expansions in the IT15 gene that were screened for the newly identified CAG/CTG expansion in the gene encoding junctophilin-3. Normal alleles in controls had from 8 to 28 repeats. A single patient of North African origin with typical HD carried an allele with 50 uninterrupted repeats, representing approximately 2% of the non-IT15 HD patients tested. Therefore, further genetic heterogeneity is expected in HD.

Citations

Sep 7, 2007·Nature Clinical Practice. Neurology·Susanne A SchneiderKailash P Bhatia
Sep 3, 2004·Proceedings of the National Academy of Sciences of the United States of America·Guliang Wang, Karen M Vasquez
Mar 19, 2014·Trends in Molecular Medicine·Andrew P LandstromXander H T Wehrens
Apr 15, 2003·The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques·M SuttonBrown, O Suchowersky
May 7, 2005·Journal of Genetics·M KeckarevićS Romac
Jul 3, 2013·Current Opinion in Neurology·Felix Gövert, Susanne A Schneider
Oct 7, 2004·Annals of Neurology·Russell L MargolisPenny Greenstein
Dec 16, 2003·Movement Disorders : Official Journal of the Movement Disorder Society·Ruth H WalkerRussell L Margolis
Mar 28, 2007·Annals of Neurology·Dobrila D RudnickiRussell L Margolis
Aug 22, 2007·Movement Disorders : Official Journal of the Movement Disorder Society·Soraya BardienJonathan Carr
Mar 18, 2008·Clinical Genetics·C SantosJ Sequeiros
Jul 22, 2008·Clinical Genetics·G G R RodriguesV Tumas
Jun 14, 2012·Movement Disorders : Official Journal of the Movement Disorder Society·Tamara PringsheimNathalie Jette
Oct 10, 2013·Clinical Genetics·R M CastilhosL B Jardim
Mar 12, 2005·Journal of the Neurological Sciences·Adrian DanekRuth H Walker
Jun 20, 2006·Lancet Neurology·Francisco CardosoWerner Poewe
Jun 17, 2015·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Amanda KrauseRussell Margolis
Aug 9, 2016·Continuum : Lifelong Learning in Neurology·Tiago A Mestre
Dec 1, 2017·Molecules : a Journal of Synthetic Chemistry and Natural Product Chemistry·April L Darling, Vladimir N Uversky
Mar 25, 2017·Journal of Huntington's Disease·David G AndersonAmanda Krause

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.