Genetic profile of Chinese patients with Charcot-Marie-Tooth disease.
Genetic profile of Chinese patients with Charcot-Marie-Tooth disease. Chin Med J (Engl). 2020 Sep 15;: Authors: Ouyang ZY, Chen Y, Qin DQ, Cen ZD, Zheng XS, Xie F, Chen S, Wang HT, Yang DH, Chen XH, Wang LB, Zhang BR, Luo W PMID: 32941234 [PubMed - as supplied by publisher]
Conclusions: In this dual-center retrospective series, the single-incision triple innominate osteotomy was extremely effective for improving acetabular coverage and stabilizing unstable hips in a variety of underlying diagnoses with an acceptably low rate of complications. Level of Evidence: Level IV—case series.
Conclusions. The nerve roots of CIDP, Charcot-Marie-Tooth disease type-1, and polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes syndrome were difficult to distinguish by MRN. Atypical CIDP patients had less nerve root injury compared with typical CIDP patients. MRN of either the brachial plexus or the lumbosacral plexus had a high diagnostic accuracy for CIDP, and it is not necessary to perform both parts of the examination. Level of Evidence: 2
This article provides an overview of Charcot-Marie-Tooth disease (CMT) and other inherited neuropathies. These disorders encompass a broad spectrum with variable motor, sensory, autonomic, and other organ system involvement. Considerable overlap exists, both phenotypically and genetically, among these separate categories, all eventually exhibiting axonal injury and neurologic impairment. Depending on the specific neural and non-neural localizations, patients experience varying morbidity and mortality. Neurologic evaluations, including neurophysiologic testing, can help diagnose and predict patient disabilities. Diagnosis i...
Charcot-Marie-Tooth (CMT) is a progressive disease with clinical signs presenting first in the distal lower extremities. Upper limb function in this population is also affected at a later stage of life but it is poorly researched and little is known about hand function limitations and loss of manual dexterity. The purpose of this study is to investigate the possible relationship between upper and lower limb function in a group of children and adolescents. The CMT natural history study at Great Ormond Street Hospital in London has been collecting longitudinal data of more than 120 children and adolescents with CMT (age range 4 to 21 years).
Charcot Marie Tooth (CMT) is an inherited progressive peripheral neuropathy characterized by prominent muscle weakness and sensory loss. Typical presentation includes high medial arches and tibialis anterior muscle weakness, which results in foot drop and leads to an increased frequency of falls. For this reason, foot drop is frequently the target of intervention. Reliably quantifying severity of foot drop and tibialis anterior muscle weakness is difficult through observational gait analysis and strength testing.
Hereditary neuropathies (HNs) are a group of disorders, clinically and genetically heterogeneous, mostly corresponding to Charcot-Marie-Tooth disease (CMT). They share distal atrophy, weakness and hypo/areflexia usually described in older ages of childhood. Patients with clinical manifestations of early onset are infrequently described. To characterize clinically, neurophysiological and genetically, 44 patients affected by HNs presenting clinical symptoms before two years of age. A retrospective observational study.
Neurofilament light chain (NEFL) protein is one of the neurofilament-core-subunits, forming heterodimers. Toxic neurofilament-accumulation is a hallmark of many neurodegenerative disorders and the potential of NEFL to serve as a serum biomarker in different neurological disorders was investigated. NEFL mutations cause demyelinating, axonal and intermediate forms of Charcot-Marie-Tooth disease (CMT), whereby most of the mutations are dominant missense variants functioning through a gain-of-function mechanism by perturbing neurofilament assembly and organelle transportation in axons.
The complex genetic background of inherited peripheral neuropathy or Charcot-Marie-Tooth disease (CMT) is incompletely understood. Variants in ITPR3, encoding inositol 1,4,5-trisphosphate receptor type 3, have previously been proposed as candidate causes of CMT but the association has not been confirmed as no further patients have been found and no functional studies performed on the mutations until now. The inositol 1,4,5-trisphosphate receptors regulate multiple cellular processes by releasing Ca2+ from the ER.
Pathogenic variants in the IGHMBP2 gene cause recessive spinal motor neuropathies of variable phenotype, including a predominantly distal motor impairment of Charcot-Marie Tooth type 2S and the more severe condition of spinal muscular atrophy with respiratory distress (SMARD1) in which infantile respiratory failure predominates.
let F Abstract The most prevalent form of Charcot-Marie-Tooth disease (CMT type 1A) is characterized by duplication of the PMP22 gene, peripheral dysmyelination and decreased nerve conduction velocities leading to muscle weakness. Recently, oxidative stress was reported as a feature in CMT1A patients. Curcumin exhibits antioxidant activities and has shown beneficial properties on peripheral nerves. However, curcumin presents unfavorable pharmacokinetics. We developed curcumin-cyclodextrin/cellulose nanocrystals (Nano-Cur) to bypass this limitation. The present study investigated the therapeutic potential of Nano-C...