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Inherited peripheral neuropathy
KELLER MP; CHANCE PF
SEMIN NEUROL , 1999, vol. 19, n° 4, p. 353-362 Doc n°: 97394 Localisation : Documentation IRR Descripteurs : AC232 - ATTEINTES DES NERFS RACHIDIENS Hereditary disorders of the peripheral nerves constitute a group of frequently encountered neurological diseases. Charcot-Marie-Tooth neuropathy type 1 (CMT1) is genetically heterogeneous and characterized by demyelination with moderately to severely reduced nerve conduction velocities, absent muscle stretch reflexes and onion bulb formation. Genetic loci for CMT1 map to chromosome 17 (CMT1A), chromosome 1 (CMT1B) and another unknown autosome (CMT1C).Mutations in the early growth response 2 gene (EGR2) are also associated with demyelinating neuropathy. Other rare forms of demyelinating peripheral neuropathies map to chromosome 8q, 10q and 11q. Dejerine-Sottas disease (DSD), also called hereditary motor and sensory neuropathy type III (HMSNIII) is a severe infantile onset demyelinating polyneuropathy that may be associated with point mutations in either the PMP22 gene or the Po gene and shares considerable clinical and pathological features with CMT1. Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant disorder that results in a recurrent, episodic demyelinating neuropathy. HNPP is associated with a 1.5-Mb deletion in chromosome 17p11.2-12 and results from reduced expression of the PMP22 gene. CMT1A and HNPP are reciprocal duplication-deletion syndromes originating from unequal crossover during germ cell meiosis. Langue : ANGLAIS Tiré à part : OUI Identifiant basis : 2000213319 |
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