Hereditary neuropathies & als
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).
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...
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...
PMID: 32941234 [PubMed - as supplied by publisher]
Distal hereditary motor neuropathies (HMNs) and axonal Charcot-Marie-Tooth neuropathy (CMT2) are clinically and genetically heterogeneous diseases characterized primarily by motor neuron degeneration and distal weakness. The genetic cause for about half of the individuals affected by HMN/CMT2 remains unknown. Here, we report the identification of pathogenic variants in GBF1 (Golgi brefeldin A-resistant guanine nucleotide exchange factor 1) in four unrelated families with individuals affected by sporadic or dominant HMN/CMT2.
This study reports a large series of patients with a clinical picture dominated by spastic paraplegia in whom variants in the NEFL gene, a known cause for Charcot-Marie-Tooth disease, were identified.
ConclusionThe finding of aHADHA mutation as a cause of CMT is of interest because its encoded protein is a subunit of the mitochondrial trifunctional protein (MTP) complex, a mitochondrial enzyme involved in long chain fatty acid oxidation. Long chain fatty acid oxidation is an important source of energy for skeletal muscles. The mutation found in CMT2-102 is only the second intronic mutation reported inGDAP1. The mutation in the CMT2-102 pedigree was outside the canonical splice site sequences, emphasizing the importance of careful examination of available intronic sequences in exome sequence data.