Sadia Beloribi-Djefaflia, Raul Juntas Morales, Farzad Fatehi, Arnaud Isapof, Laurent Servais, Sarah Leonard-Louis, Maud Michaud, Pierre Verdure, Teresa Gidaro, Jean Pouget, Vianney Poinsignon, Nathalie Bonello-Palot, Shahram Attarian
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. The patients were categorized according to their phenotype. Six patients had a pure CMT; whereas, two patients had a CMT associated with parkinsonism. Three patients had an early onset and exhibited more severe forms of the disease...
November 11, 2023: Journal of Neurology