Campanella G, Filla A, De Michele G
Clinica Neurologica II, Seconda Facoltà di Medicina, Università di Napoli.
Acta Neurol (Napoli). 1992 Aug-Dec;14(4-6):408-19.
The classifications of hereditary ataxias (HA) proposed from 1907 to 1984 are reviewed. An analysis is provided of the possible variables in the classification of HA, including inheritance, known metabolic or other cause, localization of pathological lesions, clinical signs, natural history, epidemiology, diagnostic tools. Harding's classification is assumed to be the best clinical tool to support molecular genetics studies. However, we suggest the inclusion of Late Onset Recessive Cerebellar Ataxias in Harding's classification. Some exceptions must be considered for the diagnostic criteria of Friedreich's disease. Early Onset Cerebellar Ataxia with retained tendon reflexes (EOCA) is probably a heterogeneous entity.
本文回顾了1907年至1984年期间提出的遗传性共济失调（HA）的分类。分析了HA分类中可能的变量，包括遗传方式、已知的代谢或其他病因、病理损害的定位、临床体征、自然史、流行病学、诊断工具。哈丁分类法被认为是支持分子遗传学研究的最佳临床工具。然而，我们建议在哈丁分类法中纳入晚发性隐性小脑共济失调。对于弗里德赖希共济失调的诊断标准，必须考虑一些例外情况。腱反射保留的早发性小脑共济失调（EOCA）可能是一个异质性实体。
