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Overview of hereditary neuropathy with liability to pressure palsies.
Ann N Y Acad Sci. 1999 Sep 14; 883:14-21.AN

Abstract

Hereditary neuropathy with liability to recurrent pressure-sensitive palsies (HNPP; also called tomaculous neuropathy) is an autosomal dominant disorder that produces an episodic, recurrent demyelinating neuropathy. HNPP generally develops during adolescence, and may cause attacks of numbness, muscular weakness, and atrophy. Peroneal palsies, carpal-tunnel syndrome, and other entrapment neuropathies are frequent manifestations of this disorder. Motor and sensory nerve conduction velocities may be reduced in clinically affected patients, as well as in asymptomatic gene carriers. Pathological changes observed in peripheral nerves of HNPP patients include segmental demyelination and tomaculous or "sausage-like" formations. Because of mild overlap of clinical features with CMT1, HNPP patients may be misdiagnosed as having CMT1. HNPP and CMT1 are both demyelinating neuropathies; however, their clinical, pathological, and electrophysiological features are quite distinct. The HNPP locus maps to chromosome 17p11.2-12 and is associated with a 1.5-Mb deletion. DNA markers known to map to the region in 17p11.2-12 associated with the CMT1A duplication, including the PMP22 gene, are deleted in HNPP. The deletion breakpoints in HNPP map to the same intervals in which the CMT1A duplication breakpoints map. In one pedigree, de novo deletion of paternal origin was detected as a basis for sporadic HNPP. HNPP results from deletion of the PMP22 gene and underexpression of this locus, which is reflected in reduced mRNA and protein levels in sural nerve biopsy samples from HNPP patients. Further support for this hypothesis was provided by the identification of a nondeleted HNPP kindred in which a two base pair deletion and early termination codon within exon 1 of PMP22 was present. The possibility of genetic heterogeneity in HNPP was raised by the identification of an HNPP pedigree that did not demonstrate linkage to the region of 17p11.2-12. Hereditary neuralgic amyotrophy (familial brachial plexus neuropathy) is an autosomal dominant disorder causing painful, recurrent brachial plexopathies and maps to chromosome 17q25.

Authors+Show Affiliations

Department of Pediatrics, University of Washington School of Medicine, Seattle 98195, USA. pchance@u.washington.edu

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

10586225

Citation

Chance, P F.. "Overview of Hereditary Neuropathy With Liability to Pressure Palsies." Annals of the New York Academy of Sciences, vol. 883, 1999, pp. 14-21.
Chance PF. Overview of hereditary neuropathy with liability to pressure palsies. Ann N Y Acad Sci. 1999;883:14-21.
Chance, P. F. (1999). Overview of hereditary neuropathy with liability to pressure palsies. Annals of the New York Academy of Sciences, 883, 14-21.
Chance PF. Overview of Hereditary Neuropathy With Liability to Pressure Palsies. Ann N Y Acad Sci. 1999 Sep 14;883:14-21. PubMed PMID: 10586225.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Overview of hereditary neuropathy with liability to pressure palsies. A1 - Chance,P F, PY - 1999/12/10/pubmed PY - 1999/12/10/medline PY - 1999/12/10/entrez SP - 14 EP - 21 JF - Annals of the New York Academy of Sciences JO - Ann N Y Acad Sci VL - 883 N2 - Hereditary neuropathy with liability to recurrent pressure-sensitive palsies (HNPP; also called tomaculous neuropathy) is an autosomal dominant disorder that produces an episodic, recurrent demyelinating neuropathy. HNPP generally develops during adolescence, and may cause attacks of numbness, muscular weakness, and atrophy. Peroneal palsies, carpal-tunnel syndrome, and other entrapment neuropathies are frequent manifestations of this disorder. Motor and sensory nerve conduction velocities may be reduced in clinically affected patients, as well as in asymptomatic gene carriers. Pathological changes observed in peripheral nerves of HNPP patients include segmental demyelination and tomaculous or "sausage-like" formations. Because of mild overlap of clinical features with CMT1, HNPP patients may be misdiagnosed as having CMT1. HNPP and CMT1 are both demyelinating neuropathies; however, their clinical, pathological, and electrophysiological features are quite distinct. The HNPP locus maps to chromosome 17p11.2-12 and is associated with a 1.5-Mb deletion. DNA markers known to map to the region in 17p11.2-12 associated with the CMT1A duplication, including the PMP22 gene, are deleted in HNPP. The deletion breakpoints in HNPP map to the same intervals in which the CMT1A duplication breakpoints map. In one pedigree, de novo deletion of paternal origin was detected as a basis for sporadic HNPP. HNPP results from deletion of the PMP22 gene and underexpression of this locus, which is reflected in reduced mRNA and protein levels in sural nerve biopsy samples from HNPP patients. Further support for this hypothesis was provided by the identification of a nondeleted HNPP kindred in which a two base pair deletion and early termination codon within exon 1 of PMP22 was present. The possibility of genetic heterogeneity in HNPP was raised by the identification of an HNPP pedigree that did not demonstrate linkage to the region of 17p11.2-12. Hereditary neuralgic amyotrophy (familial brachial plexus neuropathy) is an autosomal dominant disorder causing painful, recurrent brachial plexopathies and maps to chromosome 17q25. SN - 0077-8923 UR - https://www.unboundmedicine.com/medline/citation/10586225/Overview_of_hereditary_neuropathy_with_liability_to_pressure_palsies_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0077-8923&date=1999&volume=883&spage=14 DB - PRIME DP - Unbound Medicine ER -