携带HSPB1 p.Pro39Leu变异的迟发性远端遗传性运动神经病家族的临床特征

IF 3.9 3区 医学 Q1 CLINICAL NEUROLOGY Journal of the Peripheral Nervous System Pub Date : 2023-05-30 DOI:10.1111/jns.12567
Hiroya Naruse, So Okubo, Atsushi Sudo, Jun Mitsui, Takashi Mikata, Hiroyuki Ishiura, Shinichi Morishita, Shoji Tsuji, Tatsushi Toda
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引用次数: 0

摘要

背景和目的编码小热休克蛋白27的HSPB1基因的致病性变异已被报道导致常染色体显性远端遗传性运动神经病变(dHMN) II型和常染色体显性夏科-玛丽-图斯病(CMT)伴最小感觉受累(CMT2F)。本研究旨在描述携带HSPB1 Pro39Leu变异体的迟发型dHMN家族患者的临床特征。方法先证者HSPB1基因杂合致病变异(Pro39Leu)的全外显子组序列分析。HSPB1 Pro39Leu变异存在于两个受影响的个体中,通过直接核苷酸序列分析证实。结果两例患者均表现为下肢远端肌无力为主,无明显感觉障碍,临床诊断为迟发性dHMN。神经传导研究(NCSs)显示一个亚临床并发症的感觉障碍的一个病人。本文总结了本研究和以往报道的HSPB1 Pro39Leu变异患者的临床和电生理结果。本研究提示携带HSPB1 Pro39Leu变异体的患者的临床谱,尤其是发病谱可能比预期的更广,在诊断为晚发型dHMN的患者中应考虑HSPB1变异体。此外,dHMN患者可能伴有感觉缺陷,应使用ncs进行评估。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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Clinical features of a family with late-onset distal hereditary motor neuropathy harboring p.Pro39Leu variant of HSPB1

Background and Aims

Pathogenic variants of HSPB1, the gene encoding the small heat shock protein 27, have been reported to cause autosomal dominant distal hereditary motor neuropathy (dHMN) type II and autosomal dominant Charcot–Marie-Tooth (CMT) disease with minimal sensory involvement (CMT2F). This study aimed to describe the clinical features of patients in a family with late-onset dHMN carrying the Pro39Leu variant of HSPB1.

Methods

Whole-exome sequence analysis identified a heterozygous pathogenic variant (Pro39Leu) of HSPB1 in the proband. The presence of the HSPB1 Pro39Leu variant in two affected individuals was confirmed using direct nucleotide sequence analysis.

Results

Both patients exhibited distal muscle weakness with lower extremity predominance and no obvious sensory deficits, leading to a clinical diagnosis of late-onset dHMN. Nerve conduction studies (NCSs) revealed a subclinical complication of sensory disturbance in one of the patients. The clinical and electrophysiological findings of patients with the HSPB1 Pro39Leu variant in this study and previous reports are summarized.

Interpretation

This study suggests that the clinical spectrum of patients carrying HSPB1 Pro39Leu variants, especially the disease onset, might be broader than expected, and HSPB1 variants should be considered in patients diagnosed with late-onset dHMN. Furthermore, patients with dHMN may have concomitant sensory deficits that should be evaluated using NCSs.

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来源期刊
CiteScore
6.10
自引率
7.90%
发文量
45
审稿时长
>12 weeks
期刊介绍: The Journal of the Peripheral Nervous System is the official journal of the Peripheral Nerve Society. Founded in 1996, it is the scientific journal of choice for clinicians, clinical scientists and basic neuroscientists interested in all aspects of biology and clinical research of peripheral nervous system disorders. The Journal of the Peripheral Nervous System is a peer-reviewed journal that publishes high quality articles on cell and molecular biology, genomics, neuropathic pain, clinical research, trials, and unique case reports on inherited and acquired peripheral neuropathies. Original articles are organized according to the topic in one of four specific areas: Mechanisms of Disease, Genetics, Clinical Research, and Clinical Trials. The journal also publishes regular review papers on hot topics and Special Issues on basic, clinical, or assembled research in the field of peripheral nervous system disorders. Authors interested in contributing a review-type article or a Special Issue should contact the Editorial Office to discuss the scope of the proposed article with the Editor-in-Chief.
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