Hereditary neuropathy with liability to pressure palsies

Hereditary neuropathy with liability to pressure palsies

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 (toma...

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Bibliographic Details
Published in:Journal of neurology 2020-08, Vol.267 (8), p.2198-2206
Main Authors: Attarian, Shahram, Fatehi, Farzad, Rajabally, Yusuf A., Pareyson, Davide
Format: Article
Language:eng
Subjects:
Adolescents
Atrophy
Biopsy
Chromosome 17
Chromosome deletion
Chromosomes
Disease
English literature
Liability
Medicine
Medicine & Public Health
Myelin
Nerve conduction
Neurology
Neuropathy
Neuroradiology
Neurosciences
Peripheral myelin protein 22
Pressure
Review
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Summary: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.
ISSN:0340-5354
1432-1459