Cortical excitability changes distinguish the motor neuron disease phenotypes from hereditary spastic paraplegia
Cortical excitability changes distinguish the motor neuron disease phenotypes from hereditary spastic paraplegia
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DOI：
10.1111/ene.12669
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发表时间：
2015-05-01
影响因子：
5.1
通讯作者：
Vucic, S.
中科院分区：
文献类型：
--
作者：
Geevasinga, N.;Menon, P.;Vucic, S.
背景与目的皮层高兴奋性是运动神经元疾病（MND）的重要致病机制。皮层高兴奋性是否是包括肌萎缩侧索硬化症（ALS）和原发性侧索硬化症（PLS）在内的MND表型的共同过程，这一问题仍未解决。另外，PLS和类似疾病（如遗传性痉挛性截瘫（HSP））的临床区分可能很困难，可能会延误诊断。因此，本研究的目的是确定跨MND表型的皮层兴奋性变化的性质和频谱，并确定皮层功能障碍的存在是否将PLS与HSP区分开来。方法对14例PLS、82例ALS和13例HSP患者的spastin基因突变进行了皮质兴奋性研究。结果皮质高兴奋性，以短间隔皮质内抑制降低为预示(PLS 0.26%, -3.8% ~ 1.4%; ALS -0.15%, -3.6% ~ 7.0%
Background and purposeCortical hyperexcitability has been identified as an important pathogenic mechanism in motor neuron disease (MND). The issue as to whether cortical hyperexcitability is a common process across the MND phenotypes, including amyotrophic lateral sclerosis (ALS) and primary lateral sclerosis (PLS), remains unresolved. Separately, the clinical distinction between PLS and mimic disorders' such as hereditary spastic paraparesis (HSP) may be difficult, potentially delaying diagnosis. Consequently, the aim of the present study was to determine the nature and spectrum of cortical excitability changes across the MND phenotypes, and to determine whether the presence of cortical dysfunction distinguishes PLS from HSP.MethodsCortical excitability studies were undertaken on a cohort of 14 PLS, 82 ALS and 13 HSP patients with mutations in the spastin gene.ResultsCortical hyperexcitability, as heralded by reduction of short interval intracortical inhibition (PLS 0.26%, -3.8% to 1.4%; ALS -0.15%, -3.6% to 7.0%; P