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Favorable response to ketogenic diet therapy in a patient with -related epilepsy.
Epilepsy Behav Rep
March 2025
Section of Pediatric Neurology, Department of Pediatrics, The University of Chicago, Chicago, IL, United States.
Dynein Cytoplasmic 1 Heavy chain 1 (-related disorders are a spectrum of conditions including neurodevelopmental disorders, congenital brain malformations, and neuromuscular diseases. These clinical features may co-occur, with four main disease entities including epilepsy with developmental epileptic encephalopathy such as infantile epileptic spasms syndrome (IESS) and Lennox-Gastaut syndrome (LGS), axonal Charcot-Marie-Tooth disease type 2O, spinal muscular atrophy with lower extremity-predominance (SMALED), and congenital cortical malformations. Epilepsy associated with this disorder often becomes drug-resistant and requires multiple medications and, in some cases, non-pharmacological treatments.
View Article and Find Full Text PDFDistinguishing Chronic Inflammatory Demyelinating Polyneuropathy From Mimic Disorders: The Role of Statistical Modeling.
J Peripher Nerv Syst
March 2025
Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA.
Background And Aims: Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is difficult to distinguish from mimicking disorders, with misdiagnosis resulting in IVIG overutilization. We evaluate a clinical-electrophysiological model to facilitate CIDP versus mimic neuropathy prediction.
Methods: Using the European Academy of Neurology/Peripheral Nerve Society (EAN/PNS) 2021 CIDP guidelines we derived 26 clinical and 144 nerve conduction variables.
Demyelinating neuropathy as the initial presentation of familial E200K Creutzfeldt-Jakob disease in two patients.
Ann Clin Transl Neurol
January 2025
Institut du Cerveau et de la Moelle Épinière, ICM, Sorbonne Université, INSERM, CNRS, Paris, France.
Objective: To describe peripheral neuropathy associated with familial Creutzfeldt-Jakob disease.
Methods: We report two unrelated patients with genetic Creutzfeldt-Jakob disease with demyelinating peripheral neuropathy as initial presentation, with a comprehensive clinical, electrophysiological and neuropathological description.
Results: Both patients exhibited gait disturbance and paresthesia.
[Genetic analysis of a Chinese pedigree affected with Charcot-Marie-Tooth type 2A2A due to a missense variant of MFN2 gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
January 2025
Prenatal Diagnosis Center, Xuzhou Central Hospital, Xuzhou Clinical College of Xuzhou Medical University, Xuzhou, Jiangsu 221009, China.
Objective: To explore the genotype-phenotype correlation in a Charcot-Marie-Tooth type 2A2A (CMT2A2A) pedigree and to provide genetic counseling for its subsequent pregnancies.
Methods: A Chinese pedigree presenting with "lower limb muscle atrophy and movement disorders" at the Prenatal Diagnosis Center of Xuzhou Central Hospital between January and August 2024 was selected as the study subject. Relevant clinical data were collected from the pedigree members.
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