Literature DB >> 15489403

Hereditary neuropathy with liability to pressure palsy: fulminant development with axonal loss during military training.

S H Horowitz1, L E Spollen, W Yu.   

Abstract

Hereditary neuropathy with liability to pressure palsy (HNPP) is characterised by recurrent mononeuropathies following minor trauma. We describe a case of fulminant HNPP beginning on the first day of military physical training. Protracted weakness, muscle atrophy, hand contractures, and multifocal sensory loss developed during a further three weeks of basic training. Nerve conduction changes were typical of HNPP, but without segmental slowing. Electromyographically, there was prominent acute denervation in muscles of the hands and right shoulder. Sural nerve biopsy demonstrated tomaculae and remyelination. Genetic testing revealed PMP-22 gene deletion. This case report demonstrates that HNPP can present with rapidly progressive peripheral nerve dysfunction and electrophysiological evidence of focal axonal loss.

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Year:  2004        PMID: 15489403      PMCID: PMC1738805          DOI: 10.1136/jnnp.2003.029314

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN: 0022-3050            Impact factor:   10.154


  13 in total

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Journal:  Semin Neurol       Date:  2012-11-01       Impact factor: 3.420

Review 2.  The PMP22 gene and its related diseases.

Authors:  Jun Li; Brett Parker; Colin Martyn; Chandramohan Natarajan; Jiasong Guo
Journal:  Mol Neurobiol       Date:  2012-12-07       Impact factor: 5.590

3.  Conduction block in PMP22 deficiency.

Authors:  Yunhong Bai; Xuebao Zhang; Istvan Katona; Mario Andre Saporta; Michael E Shy; Heather A O'Malley; Lori L Isom; Ueli Suter; Jun Li
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Review 4.  New evidence for secondary axonal degeneration in demyelinating neuropathies.

Authors:  Kathryn R Moss; Taylor S Bopp; Anna E Johnson; Ahmet Höke
Journal:  Neurosci Lett       Date:  2020-12-24       Impact factor: 3.046

5.  Recovery of brachial plexus lesions resulting from heavy backpack use: a follow-up case series.

Authors:  Tuula Nylund; Ville M Mattila; Tapani Salmi; Harri K Pihlajamäki; Jyrki P Mäkelä
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6.  Unusual presentation of hereditary neuropathy with liability to pressure palsies.

Authors:  Muhammad U Farooq; Jayne H W Martin; Michael T Andary
Journal:  J Brachial Plex Peripher Nerve Inj       Date:  2008-01-24

Review 7.  Genetic factors for nerve susceptibility to injuries - lessons from PMP22 deficiency.

Authors:  Jun Li
Journal:  Neural Regen Res       Date:  2014-09-15       Impact factor: 5.135

8.  Pmp22 super-enhancer deletion causes tomacula formation and conduction block in peripheral nerves.

Authors:  Harrison Pantera; Bo Hu; Daniel Moiseev; Chris Dunham; Jibraan Rashid; John J Moran; Kathleen Krentz; C Dustin Rubinstein; Seongsik Won; Jun Li; John Svaren
Journal:  Hum Mol Genet       Date:  2020-06-27       Impact factor: 6.150

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Journal:  Vaccine       Date:  2019-09-20       Impact factor: 4.169

10.  DTI Study of Cerebral Normal-Appearing White Matter in Hereditary Neuropathy With Liability to Pressure Palsies (HNPP).

Authors:  Wei-Wei Wang; Chun-Li Song; Liang Huang; Qing-Wei Song; Zhan-Hua Liang; Qiang Wei; Jia-Ni Hu; Yan-Wei Miao; Bing Wu; Lizhi Xie
Journal:  Medicine (Baltimore)       Date:  2015-10       Impact factor: 1.817

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