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Review
. 2020 Aug;267(8):2198-2206.
doi: 10.1007/s00415-019-09319-8. Epub 2019 Apr 15.

Hereditary neuropathy with liability to pressure palsies

Shahram Attarian  1 , Farzad Fatehi  2   3 , Yusuf A Rajabally  4 , Davide Pareyson  5
Affiliations
Review

Hereditary neuropathy with liability to pressure palsies

Shahram Attarian et al. J Neurol. 2020 Aug.

Abstract

Hereditary neuropathy with liability to pressure palsies (HNPP) is characterized by recurrent sensory and motor neuropathy in individual nerves starting in adolescence or young adulthood, focal conduction abnormalities at entrapment sites on nerve conduction studies, and sausage-like swellings (tomacula) of the myelin sheaths by nerve biopsy. It is characterized genetically by the deletion of the chromosome 17p11.2-p12 region including the peripheral myelin protein-22 gene in the overwhelming majority of cases. HNPP may be frequently underdiagnosed or misdiagnosed owing to the heterogeneity of clinical and electrophysiological appearance. The main objective of this review is to describe clinical manifestations, paraclinical features such as electrodiagnostic, pathological, radiological and genetics findings, and possible treatments.

Keywords: Entrapment; HNPP; Hereditary motor and sensory neuropathy; Hereditary neuropathy with liability to pressure palsies; PMP22.

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References

    1. Van Paassen BW, Van Der Kooi AJ, Van Spaendonck-Zwarts KY et al (2014) PMP22 related neuropathies: Charcot–Marie–Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies. Orphanet J Rare Dis 9:38. https://doi.org/10.1186/1750-1172-9-38 - DOI - PubMed - PMC
    1. Verhagen WIM, Gabreels-Festen AAWM, Van Wensen PJM et al (1993) Hereditary neuropathy with liability to pressure palsies: a clinical, electroneurophysiological and morphological study. J Neurol Sci 116:176–184 - PubMed
    1. Earl CJ, Fullerton PM, Wakefield GS, Schutta HS (1964) Hereditary neuropathy, with liability to pressure palsies; a clinical and electrophysiological study of four families. Q J Med 33:481–549 - PubMed
    1. De Jong J (1947) Over families met hereditarie disposite tot het optreten van neuritiden, gecorreleard met migraine. Psychiatr Neurol Bull 50:60–76
    1. Koehler PJ (2003) Hereditary neuropathy with liability to pressure palsies: the first publication (1947). Neurology 60:1211–1213 - PubMed

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