Results 51 to 60 of about 13,655 (181)

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

Biallelic SCO2 Variants Presenting as Motor‐Predominant Axonal Neuropathy With Complex IV Deficiency

Journal of the Peripheral Nervous System, Volume 31, Issue 3, September 2026.
ABSTRACT Background and Aims SCO2 encodes a mitochondrial copper chaperone required for cytochrome c oxidase (COX) assembly and is classically associated with severe multisystem mitochondrial disease. We characterize a motor‐predominant axonal neuropathy presentation associated with biallelic SCO2 variants.
Adriana P. Rebelo, Katie Lutz, Tiffany Grider, Craig M. Zaidman, Michael E. Shy, Stephan Zuchner   +5 more
wiley   +1 more source

Patient outcomes in KCNQ2 developmental and epileptic encephalopathy

Developmental Medicine &Child Neurology, Volume 68, Issue 8, Page 1063-1071, August 2026.
Abstract The aim of this study was to review and summarize the literature describing clinically observed or caregiver‐reported and patient‐reported KCNQ2 developmental and epileptic encephalopathy (DEE) outcomes. Three online databases and selected congress proceedings were searched (August 2023).
Grant Maclaine, Michele H. Potashman, Deepshikha Pawar, Sugandh Sharma, Katja Rudell, Jason Lerner, Vlad Coric, Anne T. Berg, John Millichap, Gil L'Italien   +9 more
wiley   +1 more source

Charcot‐Marie‐Tooth disease in children

Annals of the Child Neurology Society
Charcot‐Marie‐Tooth (CMT) disease represents a diverse group of inherited neuropathies with a broad spectrum of symptoms. It is the most prevalent inherited neuropathy, with an estimated prevalence ranging from 9.7 to 82 cases per 100,000 individuals ...
Ezgi Saylam, Praveen Kumar Ramani, Ruthwik Duvuru, Brett Haley, Aravindhan Veerapandiyan   +4 more
doaj   +1 more source

An Engineered Glove for the Objective Assessment of Hand Dexterity in Patients With Systemic Sclerosis

ACR Open Rheumatology, Volume 8, Issue 7, July 2026.
Objective Hand disability is a major musculoskeletal functional impairment in systemic sclerosis (SSc), but its objective assessment remains challenging. The validated Hand Test System (HTS) engineered glove has provided quantitative dexterity data in rheumatic diseases.
Alberto Sulli, Elvis Hysa, Paolo Clini, Emanuele Gotelli, Tamara Vojinovic, Carmen Pizzorni, Ali Jaffal, Sabrina Paolino, Rosanna Campitiello, Vanessa Smith, Maurizio Cutolo   +10 more
wiley   +1 more source

Charcot-Marie-Tooth Disease Subtypes and Genetics

Pediatric Neurology Briefs, 2011
Researchers at Wayne State University School of Medicine, Detroit, MI, identified distinguishing clinical and physiological features of subtypes of Charcot-Marie-Tooth (CMT) disease among 787 patients that could be used to direct genetic testing.
J Gordon Millichap
doaj   +1 more source

Reply to “Sural/Radial Amplitude Ratio in Non‐Length‐Dependent Neuropathy (NLDN): A Call for More Standardized Methodology and Further Evaluation of Distal NLDN”

Muscle &Nerve, EarlyView.
Antoine Pegat, Guillaume Fargeot, Françoise Bouhour   +2 more
wiley   +1 more source

PHLPP is neither a Phosphatase nor a Tumor Suppressor

BioEssays, Volume 48, Issue 7, July 2026.
PH domain leucine‐rich repeat protein phosphatases (PHLPP) have been described as Akt phosphatases and tumor suppressors for more than 20 years. Recent evidence, however, indicates that they are pseudophosphatases that lost catalytic activity more than 450 Mya. This article argues that new hypotheses are urgently needed to reorient the field.
Thomas A. Leonard
wiley   +1 more source

CHARCOT-MARIE-TOOTH DISEASE

Zdravniški Vestnik, 2003
Background. Charcot-Marie-Tooth (CMT) disease is a common inherited disorder of the peripheral nervous system. In our paper, different types of CMT are described with their typical clinical pictures, electrophysiological signs and molecular genetic ...
Lea Leonardis, Janez Zidar, Borut Peterlin   +2 more
doaj  

Diagnostic Pitfalls in Hereditary Neurological Disorders: Machado–Joseph Disease Presenting as Charcot–Marie–Tooth Disease: A Case Report

Clinical Case Reports, Volume 14, Issue 7, July 2026.
ABSTRACT We report a 60‐year‐old Chinese woman with Machado–Joseph disease (MJD/SCA3), initially managed as Charcot–Marie–Tooth disease due to distal sensory loss, pes cavus, and areflexia. Later cerebellar, bulbar, and ocular signs, together with ATXN3 CAG expansion, clarified the diagnosis and highlighted the need to revisit atypical hereditary ...
Enoch Chi Ngai Lim, Chi Eung Danforn Lim
wiley   +1 more source