Novel Dominant Splicing Variant in MPZ Associated With Unusual Charcot-Marie-Tooth Disease [0.03%]
与罕见的Charcot-Marie-Tooth病相关的MPZ的新主导拼接变异体
Anthony Maino,Florence Hazane-Puch,Philippe Petiot et al.
Anthony Maino et al.
Background and aims: Variants in the myelin protein zero coding MPZ gene are responsible for a broad spectrum of peripheral demyelinating and axonal neuropathies, including different types of Charcot-Marie-Tooth diseases,...
Victor Evangelista Rodrigues Pereira,Roberto Pereira Santos,Marcos Raimundo Gomes de Freitas et al.
Victor Evangelista Rodrigues Pereira et al.
Background and aims: Vasculitides are a heterogeneous group of immune-mediated inflammatory disorders that compromise the vascuar wall, leading to luminal narrowing and tissue ischemia. When inflammation selectively affec...
Human Cytomegalovirus Associated Neuropathies: A Comprehensive Review From Pathophysiology to Clinical and Therapeutic Considerations [0.03%]
人类巨细胞病毒相关神经病变：从病理生理到临床和治疗的全面综述
Naomi Behanan,Sarab Mohamed,Rhona Chen et al.
Naomi Behanan et al.
Human cytomegalovirus (HCMV) is a neurotropic, double-stranded DNA virus from the Herpesviridae family. It has a large genome, infects the majority of populations, and typically causes asymptomatic infections in healthy individuals. After t...
A Case of Retinopathy-Sensory Neuropathy Syndrome With a Novel Compound Heterozygous FLVCR1 Variant [0.03%]
FLVCR1新型复合杂合突变引起的视网膜病变-感觉神经病综合征病例报告
Yumiko Nakano,Yusuke Fukui,Kentaro Deguchi et al.
Yumiko Nakano et al.
Background and aims: Retinopathy-sensory neuropathy syndrome (RETSNS), also known as posterior column ataxia with retinitis pigmentosa (PCARP), is a rare neurodegenerative disorder that is caused by biallelic pathogenic v...
ITPR1 Deletion in a Patient With Sensory Ataxic Neuropathy and Sjögren Syndrome [0.03%]
ITPR1基因缺失与感觉性共济失调型神经病和舍格伦综合征患者的关联研究
Saif Haddad,Roy Poh,Jason Hehir et al.
Saif Haddad et al.
Background: Sensory ataxic neuropathies (SAN) are rare large fibre sensory neuropathies characterised by progressive sensory loss and ataxia. They may be inherited or acquired. When inherited they are more commonly seen a...
Intravenous Efgartigimod or Intravenous Immunoglobulin in Guillain-Barre Syndrome: An Observational Multicenter Study [0.03%]
重症肌无力患者接受艾加尔替莫德或静脉注射免疫球蛋白治疗的多中心观察性研究：吉兰-巴雷综合征
Heting Cai,Fan Zhou,Tao Li et al.
Heting Cai et al.
Background and aims: Guillain-Barré syndrome (GBS) is an acute autoimmune polyradiculoneuropathy characterized by progressive flaccid paralysis. The standard treatments include intravenous immunoglobulin (IVIg) and plasm...
Observational Study
Journal of the peripheral nervous system : JPNS. 2025 Dec;30(4):e70072. DOI:10.1111/jns.70072 2025
Wearable Monitoring Captures Sleep Disturbances in Patients With Chronic Inflammatory Demyelinating Polyneuropathy [0.03%]
可穿戴监测设备可记录慢性炎症性脱髓鞘多发性神经病患者的睡眠障碍
Jan Voth,Charlotte von Gall,Noëmi Gmahl et al.
Jan Voth et al.
Background and aims: Previous studies suggest that patients with chronic inflammatory demyelinating polyneuropathy (CIDP) experience impaired sleep, contributing to fatigue. Traditional methods like polysomnography or que...
Observational Study
Journal of the peripheral nervous system : JPNS. 2025 Dec;30(4):e70069. DOI:10.1111/jns.70069 2025
Frequent De Novo Mutations in Korean Patients With Charcot-Marie-Tooth Disease [0.03%]
韩国查理-玛丽- tooth病患者中频繁的从头突变
Ah Jin Lee,Soo Hyun Nam,Sinyeong Lee et al.
Ah Jin Lee et al.
Background and aims: De novo mutations provide a fundamental source of gene pool changes, driving genomic microevolution. Charcot-Marie-Tooth disease (CMT), which is a group of genetically and clinically heterogeneous per...