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Molecular basis of hereditary neuropathies.
Phys Med Rehabil Clin N Am. 2001 May; 12(2):277-91.PM

Abstract

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) 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 or MPZ) gene. The molecular defect in CMT1C is unknown. X-linked Charcot-Marie-Tooth neuropathy (CMTX), which has clinical features similar to CMT1, is associated with mutations in the connexin32 gene. Charcot-Marie-Tooth neuropathy type 2 (CMT2) is an axonal neuropathy, also of undetermined cause. Forms of CMT2 map to chromosome 1p36 (CMT2A), chromosome 3p (CMT2B), chromosome 7p (CMT2D), and to chromosome 8p21 (CMT2E). Dejerine-Sottas disease (DSD), 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 or the P0 gene and shares considerable clinical and pathologic 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. Other rare forms of demyelinating peripheral neuropathies map to chromosomes 8q, 10q, and 11q. Hereditary neuralgic amyotrophy (familial brachial plexus neuropathy) is an autosomal dominant disorder causing painful, recurrent brachial plexopathies and maps to chromosome 17q25.

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Authors+Show Affiliations

Chance PF
Neurogenetics Laboratory, Division of Genetics and Development, Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA. pchance@u.washington.edu

MeSH

Brachial Plexus NeuritisCharcot-Marie-Tooth DiseaseElectrodiagnosisElectrophysiologyHereditary Sensory and Motor NeuropathyHumans

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.
Review

Language

eng

PubMed ID

11345007

Citation

Chance, P F.. "Molecular Basis of Hereditary Neuropathies." Physical Medicine and Rehabilitation Clinics of North America, vol. 12, no. 2, 2001, pp. 277-91.
Chance PF. Molecular basis of hereditary neuropathies. Phys Med Rehabil Clin N Am. 2001;12(2):277-91.
Chance, P. F. (2001). Molecular basis of hereditary neuropathies. Physical Medicine and Rehabilitation Clinics of North America, 12(2), 277-91.
Chance PF. Molecular Basis of Hereditary Neuropathies. Phys Med Rehabil Clin N Am. 2001;12(2):277-91. PubMed PMID: 11345007.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Molecular basis of hereditary neuropathies. A1 - Chance,P F, PY - 2001/5/10/pubmed PY - 2001/9/21/medline PY - 2001/5/10/entrez SP - 277 EP - 91 JF - Physical medicine and rehabilitation clinics of North America JO - Phys Med Rehabil Clin N Am VL - 12 IS - 2 N2 - 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) 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 or MPZ) gene. The molecular defect in CMT1C is unknown. X-linked Charcot-Marie-Tooth neuropathy (CMTX), which has clinical features similar to CMT1, is associated with mutations in the connexin32 gene. Charcot-Marie-Tooth neuropathy type 2 (CMT2) is an axonal neuropathy, also of undetermined cause. Forms of CMT2 map to chromosome 1p36 (CMT2A), chromosome 3p (CMT2B), chromosome 7p (CMT2D), and to chromosome 8p21 (CMT2E). Dejerine-Sottas disease (DSD), 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 or the P0 gene and shares considerable clinical and pathologic 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. Other rare forms of demyelinating peripheral neuropathies map to chromosomes 8q, 10q, and 11q. Hereditary neuralgic amyotrophy (familial brachial plexus neuropathy) is an autosomal dominant disorder causing painful, recurrent brachial plexopathies and maps to chromosome 17q25. SN - 1047-9651 UR - https://www.unboundmedicine.com/medline/citation/11345007/Molecular_basis_of_hereditary_neuropathies_ L2 - https://medlineplus.gov/charcotmarietoothdisease.html DB - PRIME DP - Unbound Medicine ER -