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Physical exercise halts further functional decline in an animal model for Charcot-Marie-Tooth disease 1X at an advanced disease stage.
J Peripher Nerv Syst
December 2024
Department of Neurology, Developmental Neurobiology, University Hospital Würzburg, Würzburg, Germany.
Article Synopsis
- Charcot-Marie-Tooth (CMT) type 1 neuropathies are common inherited disorders affecting the peripheral nervous system, with over 100 associated genes identified but lacking effective treatments.
- A study using Cx32def mice, a model for CMT1X, showed that late-onset voluntary wheel running (VWR) significantly improved functional outcomes, neuromuscular innervation, and axonal health despite advanced disease stages, unlike early-onset exercise which influenced nerve inflammation.
- The findings suggest that physical exercise could be a promising therapeutic option for CMT1 patients even after the onset of disease symptoms, emphasizing its potential benefits in managing the condition.
FIG4-Related Parkinsonism and the Particularities of the I41T Mutation: A Review of the Literature.
Genes (Basel)
October 2024
School of Medicine, University of Crete, Crete, 70013 Heraklion, Greece.
: The genetic underpinnings of Parkinson's disease (PD) and parkinsonism have drawn increasing attention in recent years. Mutations in the Factor-Induced Gene 4 ( have been implicated in various neurological disorders, including Charcot-Marie-Tooth disease type 4J (CMT4J), amyotrophic lateral sclerosis (ALS), and Yunis-Varón syndrome. This review aims to explore the association between mutations and parkinsonism, with a specific focus on the rare missense mutation p.
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.
Clinical and genetic features of CMT2T in Italian patients confirm the importance of MME pathogenic variants in idiopathic, late-onset axonal neuropathies.
J Peripher Nerv Syst
December 2024
Department of Neuroscience, Sense Organs and Chest, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Article Synopsis
- Biallelic mutations in the MME gene are linked to late-onset CMT2T, with recent findings suggesting heterozygous mutations may also contribute to varying degrees of axonal neuropathy severity.
- The study involved 32 Italian patients, using neurological and genetic tests to assess the impact of MME variants, revealing that both biallelic and heterozygous patients experience similar symptoms but with biallelic patients showing earlier and more severe disease progression.
- CM2T is characterized as a late-onset neuropathy primarily affecting older adults, with it being particularly relevant for those with biallelic mutations as they tend to show quick disease progression.
A novel variant of biallelic MME gene associated with autosomal recessive late-onset distal hereditary motor neuropathy in Chinese families.
BMC Med Genomics
September 2024
Department of Neurology, Qujing First People's Hospital, Yunnan, 655000, Qujing, China.
Distal hereditary motor neuropathies (dHMN) are a group of heterogeneous diseases and previous studies have reported that the compound heterozygous recessive MME variants cause dHMN. Our study found a novel homozygous MME variant and a reported compound heterozygous MME variant in two Chinese families, respectively. Next-generation sequencing and nerve conduction studies were performed for two probands.
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