Results 121 to 130 of about 4,891,805 (263)

JAK2 Variant and Parkinsonian Syndromes: Coincidence or Pathophysiological Link?

Movement Disorders Clinical Practice, EarlyView.
Abstract Background JAK2 variants are a hallmark of myeloproliferative neoplasms (MPNs), including polycythemia vera and essential thrombocythemia. These disorders are often associated with thrombotic and inflammatory complications. From a movement disorder perspective, chorea is a rare but well‐recognized neurological occurrence in this context ...
Elena Ardila Jurado, Koustubh Bavdhankar, Divyani Garg, Francesca Magrinelli, Huw R. Morris, Kailash P. Bhatia   +5 more
wiley   +1 more source

Studying Genetic Risk in the Conduct of Everyday Life

Outlines, 2003
This article is a revised version of a talk given in lieu of the Ph.D. dissertation: "Huntington´s Disease in Everyday Life. Knowledge, Ignorance and Genetic Risk".
Lotte Huniche
doaj  

The Ubiquitin-Proteasome System in Huntington’s Disease: Are Proteasomes Impaired, Initiators of Disease, or Coming to the Rescue?

Biochemistry Research International, 2012
Huntington’s disease is a progressive neurodegenerative disease, caused by a polyglutamine expansion in the huntingtin protein. A prominent hallmark of the disease is the presence of intracellular aggregates initiated by N-terminal huntingtin fragments ...
Sabine Schipper-Krom, Katrin Juenemann, Eric A. J. Reits   +2 more
doaj   +1 more source

Somatic CAG Repeat Stability in a Transgenic Sheep Model of Huntington's Disease

Somatic instability of the huntingtin (HTT) CAG repeat mutation modifies age-at-onset of Huntington's disease (HD). Understanding the mechanism and pathogenic consequences of instability may reveal therapeutic targets.
Burch, Zoe, Gillis, Tammy, McLaughlin, Clive J, Snell, Russell G, Jacobsen, Jessie C, Reid, Suzanne J, Correia, Kevin, MacDonald, Marcy E, Rudiger, Skye R, Bawden, C Simon, Wheeler, Vanessa C, Handley, Renee R   +11 more
core   +1 more source

Hyperhomocysteinemia and Vitamin B Deficiency as Potential Aggravating Factors in Huntington's Disease: A Prospective Monocentric Study

Movement Disorders, EarlyView.
Abstract Background Although not confirmed, some studies have suggested that elevated homocysteine levels are common in patients with Huntington's disease (HD). Its clinical relevance remains unclear. Objectives We aimed to assess vitamin B and homocysteine levels in HD patients and explore the relationships among hyperhomocysteinemia, vitamin B ...
Salomé Puisieux, Elise Pourié, Céline Bonnet, Lucie Hopes, Solène Frismand, Myriam Bronner, Virginie Roth, Marion Wandzel, Natacha Sloboda, Laetitia Lambert, Abderrahim Oussalah, Amélia Julien, Irina Rotaru, Rosa‐Maria Guéant‐Rodriguez, Jean Louis Guéant, Carine Bossenmeyer‐Pourié, Mathilde Renaud   +16 more
wiley   +1 more source

Lessons Learned from the Transgenic Huntington's Disease Rats

Neural Plasticity, 2012
Huntington's disease (HD) is a fatal inherited disorder leading to selective neurodegeneration and neuropsychiatric symptoms. Currently, there is no treatment to slow down or to stop the disease.
Rinske Vlamings, Dagmar H. Zeef, Marcus L. F. Janssen, Mayke Oosterloo, Frederic Schaper, Ali Jahanshahi, Yasin Temel   +6 more
doaj   +1 more source

DNA Repair Pathway Variants Are Enriched in Individuals with Biallelic AAGGG CANVAS and RFC1‐Related Disease

Movement Disorders, EarlyView.
Abstract Background Cerebellar ataxia, neuropathy and vestibular are flexia syndrome (CANVAS) and RFC1‐related disease are most commonly caused by biallelic AAGGG repeat expansions in RFC1. The high population frequency of this expansion compared to the frequency of CANVAS suggests incomplete penetrance.
Xuemin Wang, Liam G. Fearnley, Kayli C. Davies, Penny Snell, Stuart Lee, Victoria E. Jackson, Justin Read, Michael Milton, Ian H. Harding, Martin B. Delatycki, David J. Szmulewicz, Paul J. Lockhart, Melanie Bahlo, Haloom Rafehi   +13 more
wiley   +1 more source

Early Longitudinal Brain Network Changes in Huntington's Disease Before Clinical Motor Onset

Movement Disorders, EarlyView.
Abstract Background Longitudinal studies of seed‐based functional connectivity (SBFC) in young adult Huntington's disease gene‐expanded (HDGE) individuals are rare, and none, to our knowledge, have examined adult cohorts decades from predicted clinical motor diagnosis.
Michela Leocadi, Nicola Z. Hobbs, Mena Farag, Michael J. Murphy, Kate Fayer, Olivia Thackeray, Harry Knights, James B. Rowe, Trevor W. Robbins, Barbara J. Sahakian, Geraint Rees, Rachael I. Scahill, Sarah J. Tabrizi, Christelle Langley   +13 more
wiley   +1 more source

Expanded ATXN3 CAG Repeat is Stable in Human Purkinje Cells

Movement Disorders, EarlyView.
Abstract Background Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disorder caused by an abnormally long polyglutamine‐encoding CAG repeat in the ATXN3 gene. Objectives We aimed to determine whether somatic expansion of the mutant ATXN3 (mATXN3) CAG repeat is present in the output cell of the cerebellar cortex, the Purkinje cell (PC), in ...
Hasnahana Chetia, Laura Kus, Erika Sipos, Nathaniel Heintz, Kert Mätlik   +4 more
wiley   +1 more source

The Clinical Manifestation of Homozygous Huntington's Disease

Clinical Case Reports
Huntington's disease is an incurable neurodegenerative disease with deficits in many areas including cognitive, psychiatric, and most notably, motor. It is autosomal dominant, meaning one affected allele is enough to express the condition.
Brishti Sengupta, Pritha Dasgupta
doaj   +1 more source