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一个遗传性痉挛性截瘫家族的步态演变

Gait evolution in a family with hereditary spastic paraplegia.

作者信息

Armand Stéphane, Turcot Katia, Bonnefoy-Mazure Alice, Lascombes Pierre, De Coulon Geraldo

机构信息

Willy Taillard Laboratory of Kinesiology, Geneva University Hospitals, Geneva University, Geneva, Switzerland.

Willy Taillard Laboratory of Kinesiology, Geneva University Hospitals, Geneva University, Geneva, Switzerland.

出版信息

Eur J Paediatr Neurol. 2015 Jan;19(1):87-92. doi: 10.1016/j.ejpn.2014.08.001. Epub 2014 Aug 30.

Abstract

BACKGROUND

The degree of disability in patients with hereditary spastic paraplegia has been reported variable even in members of the same family (same gene mutation). Moreover, it has been established that patients with hereditary spastic paraplegia should be treated differently from cerebral palsy patients due to the progressive nature of this disease. However, the gait evolution of hereditary spastic paraplegia showing onset symptoms at an early age has been described as stable. Therefore, this study aims to evaluate the walking ability and the influence of treatments on gait evolution in a family with hereditary spastic paraplegia.

METHODS

Clinical gait analyses were performed in six hereditary spastic paraplegia patients from the same family with a follow-up of 4-15 years.

RESULTS

Based on the gait deviation index, results showed a large variation of walking ability in these patients and no statistical difference between the first and last examination. In fact, three patients have improved their gait (from childhood to adolescence) whereas three patients worsened their gait.

CONCLUSIONS

Gait alterations in a family with hereditary spastic paraplegia are heterogeneous. Gait evolution in hereditary spastic paraplegia with early symptoms had a tendency to improve gait until adolescence with adapted treatments and to decline in the adulthood.

摘要

背景

据报道,即使在同一家族(相同基因突变)的遗传性痉挛性截瘫患者中,残疾程度也存在差异。此外,由于这种疾病具有进行性,已确定遗传性痉挛性截瘫患者的治疗方法应与脑瘫患者不同。然而,早发性遗传性痉挛性截瘫的步态演变被描述为稳定。因此,本研究旨在评估一个遗传性痉挛性截瘫家族中患者的行走能力以及治疗对步态演变的影响。

方法

对来自同一家族的6例遗传性痉挛性截瘫患者进行了临床步态分析,随访时间为4至15年。

结果

基于步态偏差指数,结果显示这些患者的行走能力差异很大,首次和末次检查之间无统计学差异。事实上,3例患者的步态有所改善(从儿童期到青春期),而3例患者的步态恶化。

结论

遗传性痉挛性截瘫家族中的步态改变是异质性的。有早期症状的遗传性痉挛性截瘫患者的步态演变在青春期前经适当治疗有改善趋势,而在成年期则有下降趋势。

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