PSYCH up2date, Table of Contents PSYCH up2date 2015; 9(06): 329-340DOI: 10.1055/s-0041-102195 Organische psychische Störungen © Georg Thieme Verlag KG Stuttgart · New York Morbus Huntington: Diagnostik und aktuelle Entwicklungen Susann Schweiger , Oliver Tüscher Recommend Article Abstract Buy Article All articles of this category Full Text References Literatur 1 Pringsheim T, Wiltshire K, Day L et al. The incidence and prevalence of Huntington’s disease: a systematic review and meta-analysis. Mov Disord 2012; 27: 1083-1091 2 The Huntington’s Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington’s disease chromosomes. Cell 1993; 72: 971-983 3 Trottier Y, Biancalana V, Mandel JL. Instability of CAG repeats in Huntington’s disease: relation to parental transmission and age of onset. J Med Genet 1994; 31: 377-382 4 Paulsen JS, Langbehn DR, Stout JC et al. Detection of Huntington’s disease decades before diagnosis: the Predict-HD study. J Neurol Neurosurg Psychiatry 2008; 79: 874-880 5 Franciosi S, Shim Y, Lau M et al. A systematic review and meta-analysis of clinical variables used in Huntington disease research. Mov Disord 2013; 28: 1987-1994 6 Durr A, Hahn-Barma V, Brice A et al. Homozygosity in Huntington’s disease. J Med Genet 1999; 36: 172-173 7 Squitieri F, Gellera C, Cannella M et al. Homozygosity for CAG mutation in Huntington disease is associated with a more severe clinical course. Brain 2003; 126: 946-955 8 Chen T, Wang T, Ma Y et al. Predicting disease onset from mutation status using uroband and relative data with applications to Huntington’s disease. J Probab Stat 2012; 2012 9 Seppi K, Brugger F. Chorea. In: Oertel WH, Reichmann H, Hrsg. Parkinson-Syndrome und andere Bewegungsstörungen. Stuttgart: Thieme; 2012: 267-311 10 Ross CA, Aylward EH, Wild EJ et al. Huntington disease: natural history, biomarkers and prospects for therapeutics. Nature reviews. Neurology 2014; 10: 204-216 11 Huntington Study Group. Unified Huntington’s Disease Rating Scale: reliability and consistency. Movement Disorders 1996; 11: 136-142 12 Stout JC, Paulsen JS, Queller S et al. Neurocognitive signs in prodromal Huntington disease. Neuropsychology 2011; 25: 1-14 13 Rickards H, De Souza J, van Walsem M et al. Factor analysis of behavioural symptoms in Huntington’s disease. J Neurol Neurosurg Psychiatry 2011; 82: 411-412 14 van Duijn E, Craufurd D, Hubers AA et al. Neuropsychiatric symptoms in a European Huntington’s disease cohort (REGISTRY). J Neurol Neurosurg Psychiatry 2014; 85: 1411-1418 15 Duff K, Paulsen JS, Beglinger LJ et al. Psychiatric symptoms in Huntington’s disease before diagnosis: the predict-HD study. Biol Psychiatry 2007; 62: 1341-1346 16 Frank S. Treatment of Huntington’s disease. Neurotherapeutics 2014; 11: 153-160 17 HORIZON investigators of the Huntington Study Group and European Huntington’s Disease Network. A randomized, double-blind, placebo-controlled study of latrepirdine in patients with mild to moderate Huntington disease. JAMA Neurol 2013; 70: 25-33 18 Graveland GA, Williams RS, DiFiglia M. Evidence for degenerative and regenerative changes in neostriatal spiny neurons in Huntington’s disease. Science 1985; 227: 770-773 19 Dyer RB, McMurray CT. Mutant protein in Huntington disease is resistant to proteolysis in affected brain. Nat Genet 2001; 29: 270-278 20 Kegel KB, Meloni AR, Yi Y et al. Huntingtin is present in the nucleus, interacts with the transcriptional corepressor C-terminal binding protein, and represses transcription. J Biol Chem 2002; 277: 7466-7476 21 Clabough EB. Huntington’s disease: the past, present, and future search for disease modifiers. Yale J Biol Med 2013; 86: 217-233 22 Nopoulos PC, Aylward EH, Ross CA et al. Smaller intracranial volume in prodromal Huntington’s disease: evidence for abnormal neurodevelopment. Brain 2011; 134: 137-142 23 Mo C, Renoir T, Hannan AJ. Effects of chronic stress on the onset and progression of Huntington’s disease in transgenic mice. Neurobiol Dis 2014; 71: 81-94 24 van Dellen A, Hannan AJ. Genetic and environmental factors in the pathogenesis of Huntington’s disease. Neurogenetics 2004; 5: 9-17 25 Beal MF. Coenzyme Q10 as a possible treatment for neurodegenerative diseases. Free Radic Res 2002; 36: 455-460 26 Ravikumar B, Vacher C, Berger Z et al. Inhibition of mTOR induces autophagy and reduces toxicity of polyglutamine expansions in fly and mouse models of Huntington disease. Nat Genet 2004; 36: 585-595 27 Krauss S, Griesche N, Jastrzebska E et al. Translation of HTT mRNA with expanded CAG repeats is regulated by the MID1-PP2A protein complex. Nature communications 2013; 4: 1511
