Results 71 to 80 of about 30,318 (229)

Gait Parameters Alterations Under Dual‐Task Conditions in Patients With Acquired and Hereditary Peripheral Neuropathies

European Journal of Neurology, Volume 33, Issue 3, March 2026.
ABSTRACT Introduction Peripheral demyelinating neuropathies impair gait and increase fall risk, particularly under cognitively demanding conditions. While gait disturbances in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and Charcot–Marie–Tooth disease type 1A (CMT1A) are well documented, their differential responses to cognitive ...
Loïc Dupont, Romain Thomas, Loïc Danjoux, Madeline Cailleret, Jean‐Baptiste Davion, Luc Defebvre, Arnaud Delval, Céline Tard   +7 more
wiley   +1 more source

POLG1 Mutations and Charcot-Marie-Tooth Disease

Pediatric Neurology Briefs, 2008
A 35-year-old man first diagnosed with autosomal recessive Charcot-Marie-Tooth disease type 2 at 22 years of age had an abnormal gait and pes cavus at age 10 years.
J Gordon Millichap
doaj   +1 more source

Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1) [PDF]

, 2017
OBJECTIVE: To extend the phenotypic description of Charcot-Marie-Tooth disease (CMTX1) and to draw new genotype-phenotype relationships. METHODS: Mutations in GJB1 cause the main X-linked form of CMTX (CMTX1).
Burns, J, Day, J, Herrmann, DN, Horvath, R, Inherited Neuropathies Consortium—Rare Diseases Clinical Researc,, Laura, M, Lewis, RA, Li, J, Panosyan, FB, Pareyson, D, Pisciotta, C, Piscosquito, G, Reilly, MM, Rossor, AM, Scherer, SS, Shy, ME, Yum, SW   +16 more
core   +1 more source

Development and Validation of a Visual Grading Score of Disease Severity From Gait Videos in Genetic Peripheral Neuropathy

European Journal of Neurology, Volume 33, Issue 3, March 2026.
The Clinical Eye Score (CES) is a score to grade disease severity in peripheral neuropathy visually from videos of patients walking. It correlates strongly with state‐of‐the‐art outcome measures for peripheral neuropathy in patients with CMT. Therefore, it may provide a solution for digital or remote follow‐up examinations for adult patients with ...
Helena F. Pernice, Emanuele Piazza, Eleonora Asaad, Paul J. Wetzel, Katrin Hahn   +4 more
wiley   +1 more source

Rapid Identification of Pathogenic Variants in Two Cases of Charcot-Marie-Tooth Disease by Gene-Panel Sequencing [PDF]

, 2017
published_or_final_versio
Ho, C, Lee, EC, Liu, TK, Mak, SHT, Poon, WT, Tai, S, Tang, VW   +6 more
core   +2 more sources

Charcot-Marie-Tooth 1A concurrent with anaplastic ependymoma in a toddler: when an acute event unmasks a chronic condition

The Turkish Journal of Pediatrics, 2019
We report a 14-month-old toddler admitted to the Pediatric Oncology Department after surgical resection of supratentorial anaplastic ependymoma. The child was treated with International Society of Pediatric Oncology Ependymoma II 2015 chemotherapy ...
Maria Gogou, Efterpi Pavlidou, Evangelos Pavlou, Theodotis Papageorgiou, Athanasios Tragiannidis, Andreas Giannopoulos, Emmanuel Hatzipantelis   +6 more
doaj   +1 more source

Glutathione-conjugating and membrane-remodeling activity of GDAP1 relies on amphipathic C-terminal domain [PDF]

, 2016
Mutations in the ganglioside-induced differentiation associated protein 1 (GDAP1) cause severe peripheral motor and sensory neuropathies called Charcot-Marie-Tooth disease.
Berger, Imre, Bieniossek, Christoph, Elsässer, Hans-Peter, Huber, Nina, Niemann, Axel, Suter, Ueli, Wagner, Konstanze Marion   +6 more
core   +2 more sources

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

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy [PDF]

, 2015
OBJECTIVE To expand the clinical phenotype of autosomal dominant congenital spinal muscular atrophy with lower extremity predominance (SMA-LED) due to mutations in the dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1) gene.
Al-Lozi, Muhammad T, Baas, Frank, Baloh, Robert H, Benatar, Michael, Calissano, Mattia, Chong, W K Kling, Cirak, Sebahattin, Connolly, Anne M, de Goede, Christian G E L, De Visser, Marianne, Fallon, Penny, Foley, A Reghan, Hadjikoumi, Irene, Hafezparast, Majid, Harms, Matthew B, Klein, Andrea, Mansour, Sahar, Manzur, Adnan Y, Martínez Arroyo, Amaia, Mcwilliam, Catherine, Mercuri, Eugenio, Muntoni, Francesco, Nixon, John, Overweg-Plandsoen, W C G Truus, Phadke, Rahul, Pitt, Matthew, Reilly, Mary M, Robb, Stephanie, Rodriguez Sanz, Aida, Rossor, Alexander M, Scoto, Mariacristina, Sewry, Caroline, Taylor, J Paul, Yang, Michele   +33 more
core   +1 more source

Cranial Nerve Involvement With Diplopia as Presenting Feature of CMT1H Caused by Recurring FBLN5 Variant

Journal of the Peripheral Nervous System, Volume 31, Issue 1, March 2026.
ABSTRACT Background and Aims CMT1H is a rare, autosomal dominant, demyelinating subtype of CMT caused by variants in FBLN5. Symptomatic cranial nerve involvement has never been reported in patients with CMT1H. Case Report We report a 45‐year‐old woman with a history of long‐standing diplopia.
Georgios Koutsis, Zoi Kontogeorgiou, Charalampos Tzempetzis, Nikolaos Ragazos, Evgenia Efthymiou, Chrisoula Kartanou, Chrysoula Koniari, Nikolaos Giagkou, Klio Chatzistefanou, Georgios Velonakis, Georgia Karadima, Vasiliki Zouvelou   +11 more
wiley   +1 more source