Human Molecular Genetics, Vol 3, 1503-1507, Copyright © 1994 by Oxford University Press
PF Chance and KH Fischbeck
Collectively, the inherited disorders of peripheral nerves represent a
common group of neurologic diseases. Charcot-Marie-Tooth neuropathy type 1
(CMT1) is a genetically heterogeneous group of chronic demyelinating
polyneuropathies with loci mapping to chromosome 17 (CMT1A), chromosome 1
(CMT1B), the X chromosome (CMTX) and to another unknown autosome (CMT1C).
CMT1A is most often associated with a tandem 1.5 megabase (Mb) duplication
in chromosome 17p11.2-12, or in rare patients may result from a point
mutation in the peripheral myelin protein-22 (PMP22) gene. CMT1B is
associated with point mutations in the myelin protein zero (P0) gene. The
molecular defect in CMT1C is unknown. X-linked Charcot-Marie-Tooth
neuropathy (CMTX) is associated with mutations in the connexin32 gene.
Charcot-Marie-Tooth neuropathy type II (CMT2) is an axonal neuropathy, also
of undetermined cause. One form of CMT2 maps to chromosome 1p36 (CMT2A).
Dejerine-Sottas disease, also called hereditary motor and sensory
neuropathy type III (HMSNIII), is a severe, infantile onset demyelinating
polyneuropathy syndrome that may be associated with point mutations in
either the PMP22 gene of the P0 gene. 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 may result from reduced
expression of the PMP22 gene. CMT1A and HNPP are apparent reciprocal
duplication/deletion syndromes originating from unequal crossover during
germ cell meiosis.
REVIEWS
Molecular genetics of Charcot-Marie-Tooth disease and related neuropathies
Division of Neurology, Children's Hospital of Philadelphia, PA 19104.
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