Hereditary Neuropathy With Liability to Pressure Palsies

Hereditary Neuropathy With Liability to Pressure Palsies Publisher Pubmed

Attarian S¹ ; Fatehi F^{1, 2} ; Rajabally YA³ ; Pareyson D⁴

Show Affiliations

1. Neuromuscular Disease and ALS Reference Center, Timone University Hospital, Aix-Marseille University, CHU Timone, 264 rue Saint Pierre, Marseille Cedex 05, 13385, France
2. Department of Neurology, Iranian Center of Neurological Research, Neurosciences Institute, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran
3. Aston Brain Centre, Aston University, Birmingham, United Kingdom
4. Unit of Rare Neurodegenerative and Neurometabolic Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy

Source: Journal of Neurology Published:2020

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. © 2019, Springer-Verlag GmbH Germany, part of Springer Nature.

Style	Citing Format
MLA	Attarian S, et al.. "Hereditary Neuropathy With Liability to Pressure Palsies." Journal of Neurology, vol. 267, no. 8, 2020, pp. 2198-2206.
APA	Attarian S, Fatehi F, Rajabally YA, Pareyson D (2020). Hereditary Neuropathy With Liability to Pressure Palsies. Journal of Neurology, 267(8), 2198-2206.
Chicago	Attarian S, Fatehi F, Rajabally YA, Pareyson D. "Hereditary Neuropathy With Liability to Pressure Palsies." Journal of Neurology 267, no. 8 (2020): 2198-2206.
Harvard	Attarian S et al. (2020) 'Hereditary Neuropathy With Liability to Pressure Palsies', Journal of Neurology, 267(8), pp. 2198-2206.
Vancouver	Attarian S, Fatehi F, Rajabally YA, Pareyson D. Hereditary Neuropathy With Liability to Pressure Palsies. Journal of Neurology. 2020;267(8):2198-2206.
BibTex	@article{ author = {Attarian S and Fatehi F and Rajabally YA and Pareyson D}, title = {Hereditary Neuropathy With Liability to Pressure Palsies}, journal = {Journal of Neurology}, volume = {267}, number = {8}, pages = {2198-2206}, year = {2020} }
RIS	TY - JOUR AU - Attarian S AU - Fatehi F AU - Rajabally YA AU - Pareyson D TI - Hereditary Neuropathy With Liability to Pressure Palsies JO - Journal of Neurology VL - 267 IS - 8 SP - 2198 EP - 2206 PY - 2020 ER -

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