Zusammenfassung
Chorea Huntington (HD) ist eine autosomaldominat vererbte, neurodegenerative Erkrankung mit einer Inzidenz von 6–12 Betroffenen/100.000 Personen in Österreich. Die Krankheit wurde im Jahre 1841 erstmals beschrieben, benannt wurde sie 1872 nach dem amerikanischen Nervenarzt George Huntington. Die Ursache der Chorea Huntington ist eine Mutation im Huntingtin-Gen auf dem kurzen Arm des Chromosoms 4, bei der es durch das veränderte Huntingtin zu einer vermehrten Apoptose von Nervenzellen, vor allem im Striatums, kommt. Chorea Huntington besteht aus einer Symptomtrias und zeigt neurologische Ausfälle (Chorea, Dystonie, Augenmotilitätsstörungen, Gangstörungen, Störungen der Feinmotorik,…), psychiatrische Symptome (Depressionen, Wahnvorstellungen, Veränderungen der Persönlichkeit bis hin zu Selbstmordversuchen) und eine subkortikale Demenz. Eine kausale Therapie der Chorea Huntington existiert bisher nicht. Eine symptomatische Behandlung der Chorea Huntington ist nur begrenzt möglich, zur Therapie der Bewegungsstörungen und der psychiatrischen Symptome haben sich die neuen atypischen Neuroleptika als hilfreich erwiesen. Das Voranschreiten der Erkrankung ist damit jedoch nicht zu verhindern.
Summary
Huntington's disease (HD) is a relentlessly progressive, incurable autosomal dominant neurodegenerative disorder caused by an expansion of a CAG trinucleotide repeat on chromosome 4 coding for the proteine "huntingtin". This "wrong proteine" leads to selective neuronal loss and gliosis in restricted brain regions, i.e. in the striatum and cortex. Huntington's disease was described first in the year 1841 and was named after the american physician George Huntington in 1872. The disease is characterized clinically by an increasingly severe motor impairment (chorea, dystonia, problems with fine motor tasks, eye movement and statics and gait,…), cognitive decline (subcortical dementia), and psychiatric symptoms (depression, changes of personality, delusions, suicide attemps,…). HD is universally fatal, with a mean survival following onset of 15–20 years. Despite significant advances in understanding the mechanistic pathways mediating progression of HD, effective pharmacotherapy remains elusive.
LITERATUR
Anderson KE, Marder KS (2001) An overview of psychiatric symptoms in Huntington's disease. Curr Psychiatry Rep 3: 379–388
Andrews TC, Weeks RA, Turjanski N, Gunn RN, Watkins LH, Sahakian B, Hodges JR, Rosser AE, Woods NW, Brooks DJ (1999) Huntington's disease progression. PET and clinical observations. Brain 122: 2353–2363
Bartzokis G, Tishler TA (2000) MRI evaluation of basal ganglia ferritin iron and neurotoxicity in Alzheimer's and Huntingon's disease. Cell Mol Biol (Noisy-Le-Grand) 46: 821–833
Berrios GE, Wagle AC, Markova IS, Wagle SA, Ho LW, Rubinsztein DC, Whittaker J, Ffrench-Constant C, Kershaw A, Rosser A, Bak T, Hodges JR (2001) Psychiatric symptoms and CAG repeats in neurologically asymptomatic Huntington's disease gene carriers. Psychiatry Res 102: 217–225
Bird TD (1999) Outrageous fortune: the risk of suicide in genetic testing for Huntington disease. Am J Hum Genet 64: 1289–1292
Bird TD, Bennett TL, Lipe HP (1993) The consequences of testing for Huntington's disease. N Engl J Med 328: 1046
Bonelli RM, Hodl AK, Hofmann P, Kapfhammer HP (2004) Neuroprotection in Huntington's disease: a 2-year study on minocycline. Int Clin Psychopharmacol 19: 337–342
Bonelli RM, Mayr BJ, Niederwieder G, Reisecker F, Kapfhammer HP (2005) Ziprasidone in Huntington's disease: the first case reports. Ann Pharmacother 39: 733
Bonelli RM, Koltringer P, Kenner L, Reisecker F (1998) Reversible Huntington's disease? Lancet 352: 1520–1521
Bonelli RM, Mayr BJ, Niederwieder G, Reisecker F, Kapfhammer HP (2003) Ziprasidone in Huntington's disease: the first case reports. J Psychopharmacol 17: 459–460
Bonelli RM, Niederwieser G, Diet J, Koltringer P (2002) Riluzole and olanzapine in Huntington's disease. Eur J Neurol 9: 183–184
Bonelli RM, Niederwieser G, Tribl GG, Koltringer P (2002) High-dose olanzapine in Huntington's disease. Int Clin Psychopharmacol 17: 91–93
Bonelli RM, Thau K (2001) Noncompliance: ein Überblick. Dtsch Med Wochenschr 126: 699–703
Butters MA, Goldstein G, Allen DN, Shemansky WJ (1998) Neuropsychological similarities and differences among Huntington's disease, multiple sclerosis, and cortical dementia. Arch Clin Neuropsychol 13: 721–735
Bylsma FW, Peyser CE, Folstein SE, Folstein MF, Ross C, Brandt J (1994) EEG power spectra in Huntington's disease: clinical and neuropsychological correlates. Neuropsychologia 32: 137–150
Davis DS (1999) Rational suicide and predictive genetic testing. J Clin Ethics 10: 316–323
de la Monte SM, Vonsattel JP, Richardson EP Jr (1988) Morphometric demonstration of atrophic changes in the cerebral cortex, white matter, and neostriatum in Huntington's disease. J Neuropathol Exp Neurol 47(5): 516–525
Di Maio L, Squitieri F, Napolitano G, Campanella G, Trofatter JA, Conneally PM (1993) Suicide risk in Huntington's disease. J Med Genet 30: 293–295
Farrer LA (1986) Suicide and attempted suicide in Huntington disease: implications for preclinical testing of persons at risk. Am J Med Genet 24: 305–311
Goldenberg G (1998) Neuropsychologie: Grundlagen, Klinik, Rehabilitation 2. Auflage. Stuttgart, Jena: G. Fischer
Gusella JF, MacDonald ME (1994) Huntington's disease and repeating trinucleotides. N Engl J Med 330: 1450–1451
Gusella JF, Wexler NS, Conneally PM, Naylor SL, Anderson MA, Tanzi RE, Watkins PC, Ottina K, Wallace MR, Sakaguchi AY, and et al. (1983) A polymorphic DNA marker genetically linked to Huntington's disease. Nature 306: 234–238
Harper P, Houlihan G, Tyler A (1996) Genetic counselling in Huntington's disease. Huntington's disease. P. Harper. London, Saunders Company: 359–394
Harper P, Morris M (1996) Introduction: a historical background to Huntington's disease. Huntington's disease. P. Harper. London, Saunders Company: 1–30
Hattori H, Takao T, Ito M, Nakano S, Okuno T, Mikawa H (1984) Cerebellum and brain stem atrophy in a child with Huntington's chorea. Comput Radiol 8: 53–56
Hodl AK, Bonelli RM (2005) Huntington's disease and minocycline. Mov Disord 20: 510–511
Huntington G (1872) On chorea. Med Surg Rep 26: 317–321
Huntington's Disease Collaborative Research Group (1993) A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 72: 971–983
International Huntington Association (1994) Guidelines for the molecular genetics predictive test in Huntington's disease. J Med Genet 31: 555–559
International Huntington Association (1994) Guidelines for the molecular genetics predictive test in Huntington's disease. c (IHA) and the World Federation of Neurology (WFN) Research Group on Huntington's Chorea. Neurology 44: 1533–1536
Kessler S (1987) The dilemma of suicide and Huntington disease [letter]. Am J Med Genet 26: 315–320
Lashwood A, Flinter F (2001) Clinical and counselling implications of preimplantation genetic diagnosis for Huntington's disease in the UK. Hum Fertil 4: 235–238
Lipe H, Schultz A, Dird TD (1993) Risk factors for suicide in Huntington's disease: a retrospective case controlled study. Am J Med Genet 48: 231–233
Lundervold AJ, Karlsen NR, Reinvang I (1994) Assessment of 'subcortical dementia' in patients with Huntington's disease, Parkinson's disease, multiple sclerosis and AIDS by a neuropsychological screening battery. Scand J Psychol 35: 48–55
Magnet M, Bonelli RM, Kapfhammer HP (2004) Amantadine in the akineticrigid variant of Huntington's disease. Ann Pharmacother 38: 1194–1196
Naarding P, Kremer HP, Zitman FG (2001) Huntington's disease: a review of the literature on prevalence and treatment of neuropsychiatric phenomena. Eur Psychiatry 16: 439–445
Paulsen JS, Ready RE, Hamilton JM, Mega MS, Cummings JL (2001) Neuropsychiatric aspects of Huntington's disease. J Neurol Neurosurg Psychiatry 71: 310–314
Paulsen JS, Salmon DP, Monsch AU, Butters N, Swenson MR, Bondi MW (1995) Discrimination of cortical from subcortical dementias on the basis of memory and problem-solving tests. J Clin Psychol 51: 48–58
Quarrell O, Harper P (1996) The clinical neurology of Huntington's disease. Huntington's disease. P. S. Harper. London, Saunders: 31–72
Ranen NG, Stine OC, Abbott MH, Sherr M, Codori AM, Franz ML, Chao NI, Chung AS, Pleasant N, Callahan C, and et al. (1995) Anticipation and instability of IT-15 (CAG)n repeats in parent- offspring pairs with Huntington disease. Am J Hum Genet 57: 593–602
Robins Wahlin TB, Backman L, Lundin A, Haegermark A, Winblad B, Anvret M (2000) High suicidal ideation in persons testing for Huntington's disease. Acta Neurol Scand 102: 150–161
Rosas HD, Goodman J, Chen YI, Jenkins BG, Kennedy DN, Makris N, Patti M, Seidman LJ, Beal MF, Koroshetz WJ (2001) Striatal volume loss in HD as measured by MRI and the influence of CAG repeat. Neurology 57: 1025–1028
Rosenblatt A, Leroi I (2000) Neuropsychiatry of Huntington's disease and other basal ganglia disorders. Psychosomatics 41: 24–30
Savage CR (1997) Neuropsychology of subcortical dementias. Psychiatr Clin North Am 20: 911–931
Schmitz C, Rub U, Korr H, Heinsen H (1999) Nerve cell loss in the thalamic mediodorsal nucleus in Huntington's disease. II. Optimization of a stereological estimation procedure. Acta Neuropathol (Berl) 97: 623–628
Schoenfeld M, Myers RH, Cupples LA, Berkman B, Sax DS, Clark E (1984) Increased rate of suicide among patients with Huntington's disease. J Neurol Neurosurg Psychiatry 47: 1283–1287
Tellez-Nagler I, Johnson A, Terry R (1973) Ultrastructural and histochemical study of cerebral cortex biopsies in Huntington's disease. Advances in Neurology: 397–398
Zakzanis KK (1998) The subcortical dementia of Huntington's disease. J Clin Exp Neuropsychol 20: 565–578
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Hödl, A., Bonelli, R. Chorea Huntington – Ätiologie, Klinik und Therapie. Psychiatrie 1, 9–16 (2005). https://doi.org/10.1007/s11326-005-0001-y
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DOI: https://doi.org/10.1007/s11326-005-0001-y