title: [Review of the recent literature on hereditary neuropathies].
abstract: The recent literature included interesting reports on the pathogenic mechanisms of hereditary neuropathies. The axonal traffic and its abnormalities in some forms of Charcot-Marie-Tooth (CMT) disease were particularly reviewed by Bucci et al. Many genes related to CMT disease code for proteins that are involved directly or not in intracellular traffic. KIF1B controls vesicle motility on microtubules. MTMR2, MTMR13 and FIG4 regulate the metabolism of phosphoinositide at the level of endosomes. The HSPs are involved in the proteasomal degradation. GDAP1 and MFN2 regulate the mitochondrial fission and fusion respectively and the mitochondial transport within the axon. Pareyson et al. reported a review on peripheral neuropathies in mitochondrial disorders. They used the term of "mitochondrial CMT" for the forms of CMT with abnormal mitochondrial dynamic or structure. Among the new entities, we can draw the attention to a proximal form of hereditary motor and sensory neuropathy with autosomal dominant inheritance, which is characterized by motor deficit with cramps and fasciculations predominating in proximal muscles. Distal sensory deficit can be present. The gene TFG on chromosome 3 has been recently identified to be responsible for this form. Another rare form of axonal autosomal recessive neuropathy due to HNT1 gene mutation is characterized by the presence of hands myotonia that appears later than neuropathy but constitute an interesting clinical hallmark to orientate the diagnosis of this form. In terms of differential diagnosis, CMT4J due to FIG4 mutation can present with a rapidly progressive and asymmetric weakness that resembles CIDP. Bouhy et al. made an interesting review on the therapeutic trials, animal models and the future therapeutic strategies to be developed in CMT disease.
authors.affiliation: Service de neurophysiologie clinique, Rabat institut, hôpital des spécialités, CHU Ibn Sina, université Mohamed V-Souissi, rue Lamfadel Cherkaoui, BP 6527, Rabat, Maroc. Electronic address: nazha.birouk@gmail.com.
authors.forename: N
authors.initials: N
authors.lastname: Birouk
mesh_terms: D000818:Animals; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics; D004195:Disease Models, Animal; D005420:Flavoproteins / Q000235:genetics; D058851:GPI-Linked Proteins / Q000235:genetics; D015417:Hereditary Sensory and Motor Neuropathy; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics; D028361:Mitochondrial Diseases / Q000235:genetics; D024101:Mitochondrial Proteins / Q000235:genetics; D019006:Neural Cell Adhesion Molecules / Q000235:genetics; D010523:Peripheral Nervous System Diseases / Q000235:genetics*; D010744:Phosphoric Monoester Hydrolases / Q000235:genetics
chemical_list: D005420:Flavoproteins; D058851:GPI-Linked Proteins; D008565:Membrane Proteins; D024101:Mitochondrial Proteins; D019006:Neural Cell Adhesion Molecules; C092928:Surf-1 protein; C092530:neurotrimin; C522215:FIG4 protein, human; D010744:Phosphoric Monoester Hydrolases
keywords: Axonal traffic; Charcot-Marie-Tooth disease; Hereditary neuropathy; Maladie de Charcot-Marie-Tooth; Neuropathie héréditaire; Physiopathologie; Physiopathology; Trafic axonal