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遗传性运动和感觉神经病变:意大利都灵省的一项遗传学和流行病学研究。

Hereditary motor and sensory neuropathies: a genetic and epidemiological study in the province of Turin, Italy.

作者信息

Chiò A, Tribolo A, Brignolio F, Leone M, Meineri P, Rosso M G, Mostert M, Schiffer D

机构信息

Clinica Neurologica II, Università di Torino.

出版信息

Ital J Neurol Sci. 1987 Aug;8(4):369-74. doi: 10.1007/BF02335741.

Abstract

A clinical, genetic and epidemiological study of hereditary motor and sensory neuropathies (HMSN) was performed in the province of Turin, Italy. The patients were allocated to 5 groups, according to genetic and electroneurographic features. The high proportion of males among recessive and sporadic cases in the present series may suggest the existence of a recessive X-linked form of the disease. The crude prevalence rate was 3.18 (+/- 0.72)/100.000 population for all cases. The slow progression rate and the frequently mild symptoms of the disease, already suggested in literature, are confirmed by the analysis of the survival curves of the cases.

摘要

在意大利都灵省开展了一项关于遗传性运动和感觉神经病(HMSN)的临床、遗传学及流行病学研究。根据遗传学和神经电生理特征,将患者分为5组。本系列中隐性和散发病例的男性比例较高,这可能提示该疾病存在隐性X连锁形式。所有病例的粗患病率为3.18(±0.72)/100,000人口。文献中已提及的疾病进展缓慢和症状通常较轻这一情况,通过对病例生存曲线的分析得到了证实。

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