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https://www.readbyqxmd.com/read/25169240/diagnostic-genetic-testing-for-huntington-s-disease
#1
REVIEW
David Craufurd, Rhona MacLeod, Marina Frontali, Oliver Quarrell, Emilia K Bijlsma, Mary Davis, Lena Elisabeth Hjermind, Nayana Lahiri, Paola Mandich, Asunción Martinez, Aad Tibben, Raymund A Roos
No abstract text is available yet for this article.
February 2015: Practical Neurology
https://www.readbyqxmd.com/read/24828898/neuropsychiatric-symptoms-in-a-european-huntington-s-disease-cohort-registry
#2
Erik van Duijn, David Craufurd, Anna A M Hubers, Erik J Giltay, Raphael Bonelli, Hugh Rickards, Karen E Anderson, Marleen R van Walsem, Rose C van der Mast, Michael Orth, G Bernhard Landwehrmeyer
BACKGROUND: The majority of Huntington's disease (HD) mutation carriers experience some psychopathology during their lifetime, varying from irritability to psychosis, but prevalences of particular symptoms vary widely due to diverse study populations in different stages of HD and the use of different assessment methods. METHODS: The study population consisted of 1993 HD mutation carriers from 15 European countries, all participating in the observational REGISTRY study...
December 2014: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/24647535/putting-things-into-perspective-the-nature-and-impact-of-theory-of-mind-impairment-in-huntington-s-disease
#3
Clare M Eddy, Sridevi Sira Mahalingappa, Hugh E Rickards
In Huntington's disease (HD), frontostriatal dysfunction may lead to deficits in theory of mind (ToM), in addition to broader cognitive impairment. We investigated relationships between patients' spatial and social perspective taking performance and executive deficits, self-reported everyday perspective taking, motor symptoms, functional capacity and quality of life. Thirty patients with symptomatic HD and twenty-three healthy controls of similar age and education completed two ToM tasks, a scale assessing everyday interpersonal perspective taking, a novel object-based spatial perspective taking task (SPT) and executive measures...
December 2014: European Archives of Psychiatry and Clinical Neuroscience
https://www.readbyqxmd.com/read/23495076/better-global-and-cognitive-functioning-in-choreatic-versus-hypokinetic-rigid-huntington-s-disease
#4
Ellen P Hart, Johan Marinus, Jean-Marc Burgunder, Anna Rita Bentivoglio, David Craufurd, Ralf Reilmann, Carsten Saft, Raymund A C Roos
BACKGROUND: Understanding the relation between predominantly choreatic and hypokinetic-rigid motor subtypes and cognitive and general functioning may contribute to knowledge about different motor phenotypes in Huntington's disease. METHODS: In the European Huntington's Disease Network Registry study, 1882 subjects were classified as being predominantly choreatic (n=528) or hypokinetic-rigid (n=432), according to their scores on items of the total motor score a priori labeled as choreatic or hypokinetic-rigid; the other 922 patients were of a mixed type...
July 2013: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/22323755/cag-repeat-expansion-in-huntington-disease-determines-age-at-onset-in-a-fully-dominant-fashion
#5
J-M Lee, E M Ramos, J-H Lee, T Gillis, J S Mysore, M R Hayden, S C Warby, P Morrison, M Nance, C A Ross, R L Margolis, F Squitieri, S Orobello, S Di Donato, E Gomez-Tortosa, C Ayuso, O Suchowersky, R J A Trent, E McCusker, A Novelletto, M Frontali, R Jones, T Ashizawa, S Frank, M H Saint-Hilaire, S M Hersch, H D Rosas, D Lucente, M B Harrison, A Zanko, R K Abramson, K Marder, J Sequeiros, J S Paulsen, G B Landwehrmeyer, R H Myers, M E MacDonald, J F Gusella
OBJECTIVE: Age at onset of diagnostic motor manifestations in Huntington disease (HD) is strongly correlated with an expanded CAG trinucleotide repeat. The length of the normal CAG repeat allele has been reported also to influence age at onset, in interaction with the expanded allele. Due to profound implications for disease mechanism and modification, we tested whether the normal allele, interaction between the expanded and normal alleles, or presence of a second expanded allele affects age at onset of HD motor signs...
March 6, 2012: Neurology
https://www.readbyqxmd.com/read/21811303/discrepancies-in-reporting-the-cag-repeat-lengths-for-huntington-s-disease
#6
Oliver W Quarrell, Olivia Handley, Kirsty O'Donovan, Christine Dumoulin, Maria Ramos-Arroyo, Ida Biunno, Peter Bauer, Margaret Kline, G Bernhard Landwehrmeyer
Huntington's disease results from a CAG repeat expansion within the Huntingtin gene; this is measured routinely in diagnostic laboratories. The European Huntington's Disease Network REGISTRY project centrally measures CAG repeat lengths on fresh samples; these were compared with the original results from 121 laboratories across 15 countries. We report on 1326 duplicate results; a discrepancy in reporting the upper allele occurred in 51% of cases, this reduced to 13.3% and 9.7% when we applied acceptable measurement errors proposed by the American College of Medical Genetics and the Draft European Best Practice Guidelines, respectively...
January 2012: European Journal of Human Genetics: EJHG
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