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Inherited neuropathies: Charcot-Marie-Tooth disease and related disorders.
Baillieres Clin Neurol. 1994 Aug; 3(2):373-85.BC

Abstract

Collectively, the inherited disorders of peripheral nerves represent a common group of neurological diseases and are frequently encountered in the clinical setting. Recent advances in molecular genetics have not only provided improved diagnosis and counselling, but may ultimately lead to specific, rational therapies for the various forms of inherited neuropathy. Charcot-Marie-Tooth neuropathy type 1 (CMT1) is a genetically heterogeneous group of chronic demyelinating polyneuropathies with loci mapping to chromosome 17p (CMT1A), chromosome 1q (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 may occasionally 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. CMTX is associated with defects in the connexin 32 gene. Charcot-Marie-Tooth neuropathy type 2 (CMT2) is an axonal neuropathy, also of undetermined cause. One locus for CMT2 has been assigned for chromosome 1p (CMT2A). Dejerine-Sottas disease is a severe, infantile-onset, demyelinating polyneuropathy which may be associated with point mutations in the P0 or PMP22 genes. 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 cross-over during germ-cell meiosis.

Authors+Show Affiliations

University of Pennsylvania School of Medicine, Philadelphia.No affiliation info available

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

7952853

Citation

Chance, P F., and J R. Lupski. "Inherited Neuropathies: Charcot-Marie-Tooth Disease and Related Disorders." Bailliere's Clinical Neurology, vol. 3, no. 2, 1994, pp. 373-85.
Chance PF, Lupski JR. Inherited neuropathies: Charcot-Marie-Tooth disease and related disorders. Baillieres Clin Neurol. 1994;3(2):373-85.
Chance, P. F., & Lupski, J. R. (1994). Inherited neuropathies: Charcot-Marie-Tooth disease and related disorders. Bailliere's Clinical Neurology, 3(2), 373-85.
Chance PF, Lupski JR. Inherited Neuropathies: Charcot-Marie-Tooth Disease and Related Disorders. Baillieres Clin Neurol. 1994;3(2):373-85. PubMed PMID: 7952853.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Inherited neuropathies: Charcot-Marie-Tooth disease and related disorders. AU - Chance,P F, AU - Lupski,J R, PY - 1994/8/1/pubmed PY - 1994/8/1/medline PY - 1994/8/1/entrez SP - 373 EP - 85 JF - Bailliere's clinical neurology JO - Baillieres Clin Neurol VL - 3 IS - 2 N2 - Collectively, the inherited disorders of peripheral nerves represent a common group of neurological diseases and are frequently encountered in the clinical setting. Recent advances in molecular genetics have not only provided improved diagnosis and counselling, but may ultimately lead to specific, rational therapies for the various forms of inherited neuropathy. Charcot-Marie-Tooth neuropathy type 1 (CMT1) is a genetically heterogeneous group of chronic demyelinating polyneuropathies with loci mapping to chromosome 17p (CMT1A), chromosome 1q (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 may occasionally 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. CMTX is associated with defects in the connexin 32 gene. Charcot-Marie-Tooth neuropathy type 2 (CMT2) is an axonal neuropathy, also of undetermined cause. One locus for CMT2 has been assigned for chromosome 1p (CMT2A). Dejerine-Sottas disease is a severe, infantile-onset, demyelinating polyneuropathy which may be associated with point mutations in the P0 or PMP22 genes. 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 cross-over during germ-cell meiosis. SN - 0961-0421 UR - https://www.unboundmedicine.com/medline/citation/7952853/Inherited_neuropathies:_Charcot_Marie_Tooth_disease_and_related_disorders_ L2 - http://www.diseaseinfosearch.org/result/1276 DB - PRIME DP - Unbound Medicine ER -