Results 61 to 70 of about 11,901 (208)

Novel Biallelic PLEKHG5 Variant Associated With Intermediate Charcot‐Marie‐Tooth Disease: Case Report From South America

Journal of the Peripheral Nervous System, Volume 31, Issue 1, March 2026.
ABSTRACT Background and Aims Biallelic pathogenic variants in PLEKHG5 are associated with two distinct recessive phenotypes, including distal hereditary motor neuropathy AR type 4 and intermediate Charcot‐Marie‐Tooth disease type C (CMT). No South American cases have been previously reported.
Rafael Oliveira Vidon, Pedro José Tomaselli, Caroline Bittar‐Braune, Izabela Jardim Pitta, Glenda Corrêa Borges de Lacerda, Márcia Jardim   +5 more
wiley   +1 more source

Broadening the Clinical Spectrum of Axonal Hereditary Neuropathies: A Comparative Case Study on DNAJB2‐ and HINT1‐Related Disease

Journal of the Peripheral Nervous System, Volume 31, Issue 1, March 2026.
ABSTRACT Background and Aims Differentiating hereditary axonal polyneuropathies caused by distinct gene variants remains a clinical challenge. This comparative case study of DNAJB2‐ and HINT1‐related neuropathies aimed to broaden the phenotypic spectrum associated with these genes and to explore non‐motor symptoms and quality of life (QoL) in affected ...
Bogdan Bjelica, Corinna Hendrich, Sandra von Hardenberg, Milica Vukojevic, Sonja Körner, Thomas Gschwendtberger, Aiden Haghikia, Stojan Peric, Susanne Petri   +8 more
wiley   +1 more source

Serum Neurofilament Light Chain and Glial Fibrillary Acidic Protein as Biomarkers in Hereditary Transthyretin Amyloidosis Polyneuropathy

Journal of the Peripheral Nervous System, Volume 31, Issue 1, March 2026.
ABSTRACT Background and Aims In individuals with hereditary transthyretin amyloidosis (ATTRv) polyneuropathy, monitoring of disease progression and treatment response is crucial. The objective is to determine if serum neurofilament light chain (sNfL) and serum glial fibrillary acidic protein (sGFAP) are reliable biomarkers of ATTRv polyneuropathy ...
Valentin Loser, Pascal Benkert, Alex Vicino, Nicolas Ghika, Pansy Lim Dubois Ferrière, Chantal Daigneault, Thierry Kuntzer, Aleksandra Maleska Maceski, Jens Kuhle, Marie Théaudin   +9 more
wiley   +1 more source

Ultrasound Guidance to Augment Needle Electromyography Precision in the Complex Nerve Injury Setting

Muscle &Nerve, Volume 73, Issue 2, Page 133-148, February 2026.
ABSTRACT The rise in popularity of nerve transfer surgery in individuals with peripheral nerve and spinal cord injuries has elevated the importance of the preoperative electrodiagnostic examination. Needle electromyography (EMG) provides peripheral nerve surgeons with precise information about donor and recipient muscle health, aiding in decisions ...
Nelson Saddler, Hannah Ro, Sean Bristol, Shahin Khayambashi, Michael J. Berger   +4 more
wiley   +1 more source

Electrophysiological diagnosis using the coefficient of variation of R‐R intervals and a point‐of‐care nerve conduction device is highly correlated to the diagnosis of diabetic polyneuropathy using conventional electromyographs

Journal of Diabetes Investigation, Volume 17, Issue 2, Page 280-290, February 2026.
ABSTRACT Aims/Introduction While treatment for diabetic polyneuropathy (DPN) is still developing, progress has stagnated. The alignment between pathological neurodegeneration in DPN and patients' subjective symptoms is often low, yet these symptoms are frequently used for diagnosis.
Tatsuhito Himeno, Hideki Kamiya, Yuka Shibata, Masato Kase, Hiromi Nakai‐Shimoda, Dai Yamagami, Masahiro Saito, Teruo Jojima, Aiko Arimura, Kenta Murotani, Chieko Suzuki, Hiroki Mizukami, Takahisa Deguchi, Yoshimasa Aso, Jiro Nakamura   +14 more
wiley   +1 more source

The Diverse Neuromuscular Spectrum of VPS13A Disease

Annals of Clinical and Translational Neurology, Volume 13, Issue 1, Page 157-169, January 2026.
ABSTRACT Objective VPS13A disease (chorea‐acanthocytosis) is a rare neurodegenerative disorder caused by biallelic variants in VPS13A, typically presenting with hyperkinetic movement disorders, while neuromuscular signs are often mild. The aim of the project was to investigate the frequency and severity of neuromuscular impairment in VPS13A disease ...
Anne Buchberger, Evamaria Riedel, Marie Hackenberg, Alexander Mensch, Stefanie Beck‐Woedl, Joohyun Park, Tobias B. Haack, Bernhard Haslinger, Jan Kirschke, Holger Prokisch, Andreas Hermann, Christian Mawrin, Adrian Danek, Benedikt Schoser, Kevin Peikert, Marcus Deschauer, Isabell Cordts   +16 more
wiley   +1 more source

Unusual presentation of hereditary neuropathy with liability to pressure palsies

Journal of Brachial Plexus and Peripheral Nerve Injury, 2008
Background Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal-dominant painless peripheral neuropathy characterized by episodes of repeated focal pressure neuropathies at sites of entrapment/compression, with a considerable ...
Andary Michael T, Martin Jayne HW, Farooq Muhammad U   +2 more
doaj   +1 more source

INF2‐Related Charcot–Marie–Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights

Annals of Clinical and Translational Neurology, Volume 13, Issue 1, Page 49-57, January 2026.
ABSTRACT Background INF2 mutations cause focal segmental glomerulosclerosis (FSGS) and Charcot–Marie–Tooth disease (CMT). Accurate genetic diagnosis is critical, as INF2‐related FSGS is typically resistant to immunotherapy yet rarely recurs after transplantation, and its associated neuropathy can mimic treatable immune‐mediated disorders such as ...
Chikashi Yano, Masahiro Ando, Yujiro Higuchi, Jun‐Hui Yuan, Akiko Yoshimura, Takahiro Hobara, Risa Nagatomo, Fumikazu Kojima, Yu Hiramatsu, Satoshi Nozuma, Tomonori Nakamura, Yusuke Sakiyama, Chika Matsuoka, Toru Yamashita, Takashi Kimura, Ayako Miyazaki, Chinatsu Kinjo, Kenji Yokochi, Nanami Yamanaka, Nozomu Matsuda, Tomoki Suichi, Yoshiyuki Hanaoka, Haruka Kojima, Kenichi Todo, Hiroyuki Ishiura, Jun Mitsui, Shoji Tsuji, Hiroshi Takashima   +27 more
wiley   +1 more source

Nationwide Characterization of MFN2‐Related CMT in 176 Japanese Patients: Clinical and Genetic Insights

Annals of Clinical and Translational Neurology, Volume 13, Issue 1, Page 170-179, January 2026.
ABSTRACT Background Mitofusin 2 (MFN2) is a major causative gene for axonal Charcot – Marie – Tooth disease type 2A (CMT2A), with a wide phenotypic spectrum. Comprehensive large ‐ scale genotype – phenotype association studies are essential for understanding disease pathogenesis and improved clinical management.
Masahiro Ando, Yujiro Higuchi, Jun‐Hui Yuan, Akiko Yoshimura, Chikashi Yano, Takahiro Hobara, Fumikazu Kojima, Yu Hiramatsu, Satoshi Nozuma, Tomonori Nakamura, Yusuke Sakiyama, Jun Mitsui, Shoji Tsuji, Hiroshi Takashima   +13 more
wiley   +1 more source

Magnetic Resonance Neurography of the Brachial Plexus at 1.5 T: Diagnostic Reliability and Time Efficiency of Bilateral Ultra‐Fast 3D STIR vs. Unilateral 2D Dixon

International Journal of Imaging Systems and Technology, Volume 36, Issue 1, January 2026.
ABSTRACT Recent technological advancements may now allow shorter reliable magnetic resonance neurography (MRN) scans of the brachial plexus (BP) even at 1.5 T. The objective of this study was to compare ultra‐fast bilateral coronal 3D T2w TSE STIR (3D‐IR) with unilateral sagittal 2D T2w TSE Dixon (2D‐DX) in terms of image quality, diagnostic ...
Fabio Zecca, Frederik Abel, Egon Burian, Falko Ensle, Soléakhéna Ken, Winston J. Rennie, Luca Saba, Roman Guggenberger   +7 more
wiley   +1 more source