Leone M, Bottacchi E, D'Alessandro G, Kustermann S
Department of Neurology and Neurophysiopathology, Regional Hospital, Aosta, Italy.
Acta Neurol Scand. 1995 Mar;91(3):183-7. doi: 10.1111/j.1600-0404.1995.tb00430.x.
a study was conducted in the Valle d'Aosta Region, Italy, (115270 inhabitants) to determine the prevalence of hereditary ataxias (HA) and hereditary spastic paraplegias (HSP), and the degree of disability they cause.
we identified all patients with suspected HA or HSP referred from 1981 to 1991 to in- and out-patient departments, EEG, EMG, and CT-scan services, and centres for the handicapped. Harding's criteria were followed for diagnosis and classification.
at the prevalence day, 17 patients were alive, with a prevalence ratio of 14.8/100,000 population. There were 2 cases of Friedreich's ataxia (FA), 1 of early onset cerebellar ataxia with retained tendon reflexes (EOCA), 1 of autosomal dominant cerebellar ataxia (ADCA), 8 of sporadic idiopathic late onset cerebellar ataxias, and 5 of HSP.
epidemiological studies on HA and HSP show highly variable prevalence ratios, which could be due in part to the inclusion of sporadic cases. FA, EOCA and ADCA have similar prevalence ratios in most studies.
在意大利瓦莱达奥斯塔地区（115270名居民）开展了一项研究，以确定遗传性共济失调（HA）和遗传性痉挛性截瘫（HSP）的患病率及其所致残疾程度。
我们确定了1981年至1991年间转诊至门诊、脑电图、肌电图、CT扫描科室以及残疾人中心的所有疑似HA或HSP患者。诊断和分类遵循哈丁标准。
在普查日，有17名患者存活，患病率为14.8/10万人口。其中有2例弗里德赖希共济失调（FA）、1例早期发作且腱反射保留的小脑性共济失调（EOCA）、1例常染色体显性小脑性共济失调（ADCA）、8例散发性特发性迟发性小脑性共济失调以及5例HSP。
关于HA和HSP的流行病学研究显示患病率差异很大，这可能部分归因于纳入了散发病例。在大多数研究中，FA、EOCA和ADCA的患病率相似。
