[Hereditary neuropathies].
Although there are many human hereditary neuropathies, most of them with the exception of Charcot-Marie-Tooth disease or hereditary sensorimotor neuropathy, are rare. Irrespective of their type, the mode of transmission may be autosomal dominant or recessive, or X-linked. The most difficult to diagnose, however, are the sporadic forms. It is customary to distinguish the cases in which the neuropathy is the sole clinical expression from multisystemic diseases where neuropathy is one component of multi-organ involvement. The complexity and the multiplicity of genes involved and the lack of understanding of their exact functions hinder logical presentation of these hereditary neuropathies. For understandable technical reasons, the stage of specific treatment, namely the repair of the mutated gene, has yet to be attained.
Vallat
Jean-Michel
JM
Service de neurologie, centre de référence neuropathies périphériques rares, CHU Dupuytren, 87042 Limoges Cedex, France. jean-michel.vallat@unilim.fr
Calvo
Judith
J
Ghorab
Karima
K
Tazir
Meriem
M
D028227:Amyloid Neuropathies, Familial / Q000175:diagnosis; D001369:Axons / Q000502:physiology; D002607:Charcot-Marie-Tooth Disease / Q000145:classification / Q000175:diagnosis; D041321:Chromosomes, Human, X / Q000235:genetics; D003711:Demyelinating Diseases / Q000235:genetics; D000795:Fabry Disease / Q000175:diagnosis; D005799:Genes, Dominant / Q000235:genetics; D005808:Genes, Recessive / Q000235:genetics; D015417:Hereditary Sensory and Motor Neuropathy / Q000175:diagnosis*; D006801:Humans; D011164:Porphyrias / Q000175:diagnosis