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Your search keyword '"Sole G"' showing total 10 results
Start Over Author "Sole G" Journal revue neurologique
10 results on '"Sole G"'

2. Transthyretin amyloid polyneuropathy in France: A cross-sectional study with 413 patients and real-world tafamidis meglumine use (2009–2019)

Author

Adams, D., Cintas, P., Solé, G., Tard, C., Labeyrie, C., Echaniz-Laguna, A., Cauquil, C., Pereon, Y., Magy, L., Morales, R. Juntas, Antoine, J.C., Lagrange, E., Petiot, P., Mallaret, M., Francou, B., Guiochon-Mantel, A., Coste, A., Demarcq, O., Geffroy, C., Famelart, V., Rudant, J, Bartoli, M, Donal, E., Lairez, O., Eicher, J.C., Kharoubi, M., Oghina, S., Trochu, J.N., Inamo, J., Habib, G., Roubille, F., Hagège, A., Morio, F., Cariou, E., Adda, J., Slama, M.S., Charron, P., Algalarrondo, V., Damy, T., and Attarian, S.

Published
2024
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10. [Charcot-Marie-Tooth disease associated with periaxin mutations (CMT4F): Clinical, electrophysiological and genetic analysis of 24 patients].

Author

Renouil M, Stojkovic T, Jacquemont ML, Lauret K, Boué P, Fourmaintraux A, Randrianaivo H, Tallot M, Mignard D, Roelens P, Tabailloux D, Bernard R, Cartault F, Chane-Thien E, Dubourg O, Ferrer X, Sole G, Fournier E, Latour P, Lacour A, and Mignard C

Subjects
Adult, Charcot-Marie-Tooth Disease diagnosis, Child, Child, Preschool, Cohort Studies, Electrophysiology, Family, Female, France, Humans, Infant, Male, Reunion, Young Adult, Charcot-Marie-Tooth Disease genetics, Charcot-Marie-Tooth Disease physiopathology, Membrane Proteins genetics, Mutation
Abstract

Autosomal recessive Charcot-Marie-Tooth disease (AR-CMT) is often characterized by onset in early childhood and severe phenotype compared to the dominant forms. CMT disease associated with periaxin gene (PRX) is rare and characterized by demyelination limited to the major peripheral nerves. Following the discovery of a high frequency of a specific periaxin gene mutation (E1085fsX4 homozygote) in the Reunion Island, we examined all French patients known as carriers of the periaxin gene mutation. There were 24 patients. Eighteen were from the Reunion Island (6 families and 10 sporadic cases). The six remaining patients were in two families, each with two affected individuals, and two sporadic cases. The series included 17 female and seven male patients. Walking was acquired late, on average at 3.4±1.6 years. One patient never learned to walk. The Charcot Marie Tooth Neuropathy Score (CMTNS) averaged 24.5±8.1. Seven patients had been wheelchair-bound since the age of 24±22. Other symptoms were: scoliosis most often observed after the age of 12 years and sometimes complicated by a restrictive respiratory syndrome; foot deformity in 24 patients; strabismus; glaucoma; myopia. When conduction recordings are available, median nerve motor conduction was slow (<10m/s), associated with a major lengthening of distal latencies. Study of the periaxin gene should be considered in patients with severe demyelinating neuropathy associated with early infantile scoliosis. This disease leads to major disability (29% of patients in this series were wheelchair-bound) and to respiratory insufficiency. Genetic counselling is highly recommended for consanguineous families., (Copyright © 2013 Elsevier Masson SAS. All rights reserved.)

Published
2013
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