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Distinguishing 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.
Epigenetic regulation of the human gene.
Biochem Biophys Rep
December 2024
Laboratory of Epigenetics, Institute of Medical Biology, Polish Academy of Sciences, Lodowa 106, 93-232, Lodz, Poland.
Mutations in the ganglioside-induced differentiation-associated protein 1 () gene are linked to Charcot-Marie-Tooth (CMT) disease, a hereditary neurodegenerative condition. The protein encoded by this gene is involved in mitochondrial fission and calcium homeostasis. Recently, GDAP1 has also been implicated in the survival of patients with certain cancers.
View Article and Find Full Text PDFITPR3-associated neuropathy: Report of a further family with adult onset intermediate Charcot-Marie-Tooth disease.
Eur J Neurol
December 2024
Neuromuscular Diseases Unit, Department of Neurology, Hospital Universitari i Politècnic La Fe, Valencia, Spain.
Background And Purpose: ITPR3 encodes type 3 inositol-tri-phosphate receptor (IPR3), a protein expressed in Schwann cells, predominantly in the paranodal region, and involved in the regulation of Ca release from the endoplasmic reticulum. Dominant variants in ITPR3 have recently been recognized as a rare cause of intermediate Charcot-Marie-Tooth disease (CMT).
Methods: We collected the clinical data of a family with autosomal dominant neuropathy whose proband was diagnosed with chronic inflammatory demyelinating polyneuropathy (CIDP) for many years.
Charcot-Marie-Tooth type 2CC misdiagnosed as Chronic Inflammatory Demyelinating Polyradiculoneuropathy.
Neurol Sci
December 2024
Department of Neurosciences, Reproductive and Odonstomatological Sciences, University Federico II, Via Sergio Pansini, Naples, 5 - 80131, Italy.
Background And Aims: Charcot-Marie-Tooth (CMT) is a heterogeneous group of genetic neuropathies and is typically characterized by distal muscle weakness, sensory loss, pes cavus and areflexia. Herein we describe a case of CMT2CC presenting with proximal muscle weakness and equivocal electrophysiological features, that was misdiagnosed as chronic inflammatory demyelinating polyneuropathy (CIDP).
Case Report: A 30-year-old woman complained of proximal muscle weakness with difficulty climbing stairs.
Méary's angle decoded: 3D analysis of first ray plantarflexion deformity in Charcot-marie-tooth disease.
Foot Ankle Surg
August 2024
Department of Orthopaedic Surgery, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Background: The typical cavovarus deformity seen in patients with Charcot-Marie-Tooth (CMT) involves plantarflexion of the first ray. The exact apex of the deformity has never been proven, although it is presumed to be within the medial cuneiform. The aim of this study was to utilize weight-bearing computed tomography (WBCT) to localize and quantify first ray plantarflexion deformity in CMT patients.
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