Huntington-Krankheit und Chorea minor

Die Huntington-Krankheit war ein wichtiges Beispiel, an dem die Problematik prädiktiver genetischer Testung diskutiert wurde. Ebenso wie andere Bewegungsstörungen schließt sie nichtmotorische Symptome und eine Prodromalphase ein. Als rasch progrediente monogenetische Erkrankung ist sie eine wichtige Modellerkrankung zur Erforschung neurodegenerativer Pathomechanismen und eine der ersten Bewegungsstörungen, für die kausale Therapien greifbar nahe scheinen.

Huntington’s disease was an important example for discussing the problem of predictive genetic testing. Like other movement disorders, it includes non-motor symptoms and a prodromal phase. As a rapidly progressive monogenetic disease, it is an important model disease for the study of neurodegenerative pathomechanisms and one of the first movement disorders for which causal therapies seem to be reachable.

Huntington - Neurodegeneration - Hyperkinese - Streptokokken

Huntington - chorea - treatment - care - clinical practice

Publication History

Article published online:
18 June 2020

• Literatur

• 1 Oosterloo M, Bijlsma EK, van Kuijk SM. et al. Clinical and genetic characteristics of late-onset Huntingtonʼs disease. Parkinsonism Relat Disord 2019; 61: 101-105
• 2 Honrath P, Dogan I, Wudarczyk O. et al. Risk factors of suicidal ideation in Huntingtonʼs disease: literature review and data from Enroll-HD. J Neurol 2018; 265: 2548-2561
• 3 Aziz NA, van der Burg JMM, Tabrizi SJ. et al. Overlap between age-at-onset and disease-progression determinants in Huntington disease. Neurology 2018; 90: e2099-e2106
• 4 Arrasate M, Mitra S, Schweitzer ES. et al. Inclusion body formation reduces levels of mutant huntingtin and the risk of neuronal death. Nature 2004; 431: 805-810
• 5 Trajkovic K, Jeong H, Krainc D. Mutant huntingtin is secreted via a late endosomal / lysosomal unconventional secretory pathway. J Neurosci 2017; 37: 9000-9012
• 6 McNally G, Rickards H, Horton M. et al. Exploring the validity of the short version of the Problem Behaviours Assessment (PBA‑s) for Huntingtonʼs disease: A Rasch analysis. J Huntingtons Dis 2015; 4: 347-369
• 7 Müller HP, Huppertz HJ, Dreyhaupt J. et al. Combined cerebral atrophy score in Huntingtonʼs disease based on atlas-based MRI volumetry: Sample size calculations for clinical trials. Parkinsonism Relat Disord 2019 DOI: 10.1016/j.parkreldis.2019.02.004
• 8 Saft C, Bonelli RM, Burgunder J-M. et al. Leitlinien „Chorea / Morbus Huntington“ für die deutschsprachigen Länder neu überarbeitet. Akt Neurol 2018; 45: 570-585
• 9 Saft C, Hein von SM, Lücke T. et al. Cannabinoids for treatment of dystonia in Huntingtonʼs Disease. J Huntingtons Dis 2018; 7: 167-173
• 10 Fritz NE, Rao AK, Kegelmeyer D. et al. Physical therapy and exercise interventions in Huntingtonʼs disease: a mixed methods systematic review. J Huntingtons Dis 2017; 6: 217-235
• 11 Quinn L, Busse M. Physiotherapy clinical guidelines for Huntington ʼs disease. Neurodegener Dis Manag 2012; 2: 21-31
• 12 Reilmann R, McGarry A, Grachev ID. et al.; European Huntington ʼs Disease Network; Huntington Study Group investigators. Safety and efficacy of pridopidine in patients with Huntington ʼs disease (PRIDE‑HD): a phase 2, randomised, placebocontrolled, multicentre, dose-ranging study. Lancet Neurol 2019; 18: 165-176
• 13 Wojtecki L, Groiss SJ, Ferrea S. et al. Surgical Approaches Working Group of the European Huntingtonʼs Disease Network (EHDN). A prospective pilot trial for pallidal deep brain stimulation in Huntingtonʼs disease. Front Neurol 2015; 6: 180
• 14 Surgical Approaches Working Group of the European Huntington ʼs Disease Network (EHDN);. Ferrea S, Groiss SJ, Elben S. et al. Pallidal deep brain stimulation in juvenile Huntingtonʼs disease: local field potential oscillations and clinical data. J Neurol 2018; 265: 1573-1579
• 15 Huntington Study Group. Unified Huntingtonʼs Disease Rating Scale: reliability and consistency. Mov Disord 1996; 11: 136-142
• 16 Dubois B, Slachevsky A, Litvan I. et al. The FAB: A frontal assessment battery at bedside. Neurology 2000; 55: 1621-1626
• 17 Harbo HF, Finsterer J, Baets J. et al.; EFNS. EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntingtonʼs disease, Parkinsonʼs disease and dystonias. Eur J Neurol 2009; 16: 777-785