Leblhuber F
Abteilung für Neurologisch-Psychiatrische Gerontologie, Wagner-Jauregg-Krankenhaus Linz.
Fortschr Neurol Psychiatr. 1993 Jan;61(1):1-21. doi: 10.1055/s-2007-999115.
This review summarises the techniques for early and presymptomatic testing of Huntington's chorea, a chronic neurodegenerative disorder. Presenting electrodiagnostic, neuroradiographic and neuropsychological measurements, the problem of early detection of this hereditary disorder is discussed. Presently, except for DNA-testing, none of the tests presented can reliably identify symptom-free gene carriers.
本综述总结了慢性神经退行性疾病亨廷顿舞蹈症的早期和症状前检测技术。文中展示了电诊断、神经影像学和神经心理学测量方法,并讨论了这种遗传性疾病的早期检测问题。目前,除了DNA检测外,所介绍的检测方法均无法可靠地识别无症状的基因携带者。