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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 PDFClinical and genetic features of patients suffering from CMT4J.
J Neurol
March 2024
Reference Center for Neuromuscular Disorders and ALS, Timone University Hospital, Aix-Marseille University, 264 Rue Saint Pierre, 05 13385, Marseille, Cedex, France.
Mutations in the FIG4 gene have been identified in various diseases, including amyotrophic lateral sclerosis, Parkinson's disease, and Charcot-Marie-Tooth 4 J (CMT4J), with a wide range of phenotypic manifestations. We present eight cases of CMT4J patients carrying the p.Ile41Thr mutation of FIG4.
View Article and Find Full Text PDFClinical and Genetic Aspects of Childhood-Onset Demyelinating Charcot-Marie-Tooth's Disease in Brazil.
J Pediatr Genet
December 2023
Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, São Paulo, Brazil.
Charcot-Marie-Tooth's disease (CMT) represents the most common inherited neuropathy. Most patients are diagnosed during late stages of disease course during adulthood. We performed a review of clinical, neurophysiological, and genetic diagnoses of 32 patients with genetically defined childhood-onset demyelinating CMT under clinical follow-up in a Brazilian Center for Neuromuscular Diseases from January 2015 to December 2019.
View Article and Find Full Text PDFCMT4J, parkinsonism and a new FIG4 mutation.
Parkinsonism Relat Disord
December 2020
Neuromuscular Unit, Department of Neurology. University Hospital "12 de Octubre", Research Institute imas12, Centre for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain. Electronic address:
Charcot-Marie-Tooth disease type 4J with spastic quadriplegia, epilepsy and global developmental delay: a tale of three siblings.
Int J Neurosci
August 2022
Department of Neuromedicine, Bangur Institute of Neurosciences, Kolkata, West Bengal, India.
Charcot-Marie-Tooth (CMT) disease is mainly a disease of peripheral nervous system and patients typically present with features of demyelinating neuropathy or axonal neuropathy or both. Rarely patients present with features of central nervous system involvement. Parkinsonism, aphemia and familial epilepsy syndrome have previously come up as case reports in association with CMT type 4 J.
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