Results 1 to 10 of about 50 (38)

Huntington disease [PDF]

Nature Reviews Disease Primers, 2015
Huntington disease is devastating to patients and their families - with autosomal dominant inheritance, onset typically in the prime of adult life, progressive course, and a combination of motor, cognitive and behavioural features. The disease is caused by an expanded CAG trinucleotide repeat (of variable length) in HTT, the gene that encodes the ...
Matthew P. Parsons, Lynn A. Raymond
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Huntington's Disease [PDF]

Nursing Standard, 2004
Huntington's disease is a complex degenerative disorder that affects the central nervous system. Although it is a rare condition, nurses are ideally placed to assess and manage patients with the disease, while also providing information and support to family members.
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Huntington's Disease [PDF]

Cold Spring Harbor Perspectives in Biology, 2011
Huntington's disease (HD) is the most common inherited neurodegenerative disease and is characterized by uncontrolled excessive motor movements and cognitive and emotional deficits. The mutation responsible for HD leads to an abnormally long polyglutamine (polyQ) expansion in the huntingtin (Htt) protein, which confers one or more toxic functions to ...
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Huntington’s Disease

Prenatal Diagnosis, 1996
Huntington's disease (HD) is a late-onset degenerative disorder of the central nervous system, caused by a dominantly inherited mutation in a gene on chromosome 4p. The identification of the trinucleotide repeat mutation responsible for this disorder has been an important step towards understanding the molecular pathology of HD, but in the meantime has
Shutish C. Patel, Kamlesh Asotra, Yogesh C. Patel   +2 more
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Huntington’s disease: Neuropsychiatric manifestations of Huntington’s disease [PDF]

Australasian Psychiatry, 2018
Objectives: Huntington’s disease (HD) is a profoundly incapacitating, and ultimately fatal, neurodegenerative disease. HD is presently incurable, so the current goal is to allow affected individuals to live as well as possible with the illness, to maximise functional independence and quality of life for the ...
Anita MY Goh, Pierre Wibawa, Samantha M Loi, Mark Walterfang, Dennis Velakoulis, Jeffrey CL Looi   +5 more
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The Prevalence of Huntington's Disease [PDF]

Neuroepidemiology, 2016
<b><i>Background:</i></b> Reviews of the epidemiology of Huntington's disease (HD) suggest that its worldwide prevalence varies widely. This review was undertaken to confirm these observations, to assess the extent to which differences in case-ascertainment and/or diagnosis might be responsible, and to investigate whether the ...
Rawlins, Michael D, Wexler, Nancy S, Wexler, Alice R, Tabrizi, Sarah J, Douglas, Ian, Evans, Stephen JW, Smeeth, Liam   +6 more
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Observing Huntington's disease: the European Huntington's Disease Network's REGISTRY

Journal of Neurology, Neurosurgery & Psychiatry, 2010
BACKGROUND: Huntington's disease (HD) is a rare triplet repeat (CAG) disorder. Advanced, multi-centre, multi-national research frameworks are needed to study simultaneously multiple complementary aspects of HD. This includes the natural history of HD, its management and the collection of clinical information and biosamples for research. METHODS:
Orth M, Handley OJ, Schwenke C, Dunnett S, Wild EJ, Tabrizi SJ, Landwehrmeyer GB, Bachoud Lévi AC, Bentivoglio AR, Biunno I, Bonelli R, Burgunder JM, Dunnett SB, Ferreira JJ, Giuliano J, Handley OJ, Heiberg A, Illmann T, van Kammen D, Landwehrmeye GB, Levey J, Nielsen JE, Päivärinta M, Roos RA, Sebastián AR, Tabrizi SJ, Vandenberghe W, Verellen Dumoulin C, Zaremba J, Uhrova T, Wahlström J, Schwenke C, Orth M, Illmann T, Wallner M, Barth K, Guedes LC, Finisterra AM, Garde MB, Bos R, Burg S, Ecker D, Handley OJ, Held C, Koppers K, Laurà M, Descals AM, McLean T, Mestre T, Minster S, Monza D, Townhill J, Orth M, Padieu H, Paterski L, Peppa N, Koivisto SP, Rialland A, Røren N, Sasinková P, Cubillo PT, Tritsch C, van Walsem MR, Witjes Ané MN, Yudina E, Zielonka D, Zielonka E, Zinzi P, Bonelli RM, Herranhof B, Holl A, Kapfhammer HP, Koppitz M, Magnet M, Otti D, Painold A, Reisinger K, Scheibl M, Hecht K, Lilek S, Müller N, Schöggl H, Ullah J, Brugger F, Hepperger C, Hotter A, Mahlknecht P, Nocker M, Seppi K, Wenning G, Buratti L, Hametner EM, Holas C, Hussl A, Mair K, Poewe W, Wolf E, Zangerl A, Braunwarth EM, Lilek S, Sinadinosa D, Walleczek AM, Bonelli RM, Ladurner G, Staffen W, Ribaï P, Verellen Dumoulin C, Flamez A, Morez V, de Raedt S, Boogaerts A, Vandenberghe W, van Reijen D, Klempíř J, Kucharík M, Roth J, Šenkárová Z, Hasholt L, Hjermind LE, Jakobsen O, Nørremølle A, Sørensen SA, Stokholm J, Nielsen J, Hiivola H, Martikainen K, Tuuha K, Peippo M, Sipponen M, Ignatius J, Kärppä M, Åman J, Santala M, Allain P, Guérid MA, Gohier B, Olivier A, Prundean A, Scherer Gagou C, Verny C, Babiloni B, Debruxelles S, Goizet C, Lafoucrière D, De Bruycker C, Carette AS, Decorte E, Delval A, Delliaux M, Dujardin K, Peter M, Plomhouse L, Simonin C, Thibault Tanchou S, Bellonet M, Duru C, Krystkowiak P, Roussel M, Wannepain S, Azulay JP, Chabot C, Delphini M, Eusebio A, Grosjean H, Mundler L, Nowak M, Rudolf G, Steinmetz G, Tranchant C, Wagner C, Zimmermann MA, Calvas F, Cheriet S, Démonet JF, Galitzky M, Kosinski CM, Milkereit E, Probst D, Sass C, Schiefer J, Schlangen C, Werner CJ, Gelderblom H, Priller J, Prüss H, Spruth EJ, Andrich J, Hoffmann R, Kraus PH, Muth S, Prehn C, Saft C, Salmen S, Stamm C, Steiner T, Strassburger K, Lange H, Friedrich A, Hunger U, Löhle M, Ganos C, Schrader C, Reilmann R, Landwehrmeyer B, Capellari S, Rizzo G, Sorbi S, Abbruzzese G, Di Maria E, Mandich P, Albanese A, Di Bella D, Gellera C, Mariotti C, Rinaldi C, Russo CV, Cannella M, Catalli C, ROMANO, SILVIA, Frich J, Slawek J, Wójcik M, Janik P, Rakowicz M, Witkowski G, Januário C, Cavaco S, Gago M, Barrero F, Calopa M, Gorospe A, Mir P, Paucar M, Svenningsson P, Tedroff J, Kaelin A, Schüpbach M, Miedzybrodzka Z, Busse M, Rosser A, Lahiri N, Tabrizi S, Wild E   +242 more
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The Neuropsychology of Huntington's Disease [PDF]

Archives of Clinical Neuropsychology, 2017
Huntington's disease is an inherited, degenerative brain disease, characterized by involuntary movements, cognitive disorder and neuropsychiatric change. Men and women are affected equally. Symptoms emerge at around 40 years, although there is wide variation. A rare juvenile form has onset in childhood or adolescence.
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Huntington’s disease: Managing neuropsychiatric symptoms in Huntington’s disease

Australasian Psychiatry, 2018
Objectives: This clinical update review focuses on the management of the neuropsychiatric manifestations of Huntington’s disease (HD). The review highlights current issues regarding pharmacological and non-pharmacological treatment, putative therapeutics and recent relevant research findings in this area.
Samantha M Loi, Mark Walterfang, Dennis Velakoulis, Jeffrey CL Looi   +3 more
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Huntington Disease [PDF]

Journal of Neuropathology and Experimental Neurology, 1998
J P, Vonsattel, M, DiFiglia
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