Clinical, electrophysiological, and molecular findings in early onset hereditary neuropathy with liability to pressure palsy. Issue 6 (30th October 2014)

• Record Type: Journal Article
• Authors: Potulska‐Chromik, Anna; Sinkiewicz‐Darol, Elena; Ryniewicz, Barbara; Lipowska, Marta; Kabzińska, Dagmara; Kochański, Andrzej; Kostera‐Pruszczyk, Anna
• Is Part Of: Muscle & nerve. Volume 50:Issue 6(2014:Dec.)
• Page Start: 914
• Page End: 918
• Publication Date: 2014-10-30
• Subjects: Neuromuscular diseases -- Periodicals; Muscles -- Periodicals; Nerves -- Periodicals; 616.74
• DOI: 10.1002/mus.24250
• Languages: English
• ISSNs: 0148-639X

Abstract

<abstract abstract-type="main"> <title>ABSTRACT</title> <p> <italic>Introduction</italic>: The first episode of hereditary neuropathy with liability to pressure palsy (HNPP) in childhood is rare. <italic>Methods</italic>: We analyzed retrospectively the data of 7 patients with a deletion in <italic>PMP22</italic> and onset of symptoms before age 18 years. Direct sequencing of the <italic>LITAF</italic> (lipopolysaccharide‐induced tumor necrosis factor) gene was performed in patients and family members. <italic>Results</italic>: Clinical presentations varied from mononeuropathies to brachial plexopathy, with recurrent episodes in 4 patients. Electrophysiological abnormalities characteristic for HNNP were found in most subjects. Analysis of the <italic>LITAF</italic> gene revealed an Ile92Val polymorphism in 6 of 7 (86%) probands and 5 of 7 (83%) family members, over 4 times greater frequency than in the general population. <italic>Conclusions</italic>: Clinical suspicion of HNPP even when nerve conduction study results do not fulfill HNPP criteria should indicate genetic testing. In our patients, early‐onset HNPP was associated frequently with isoleucine92valine <italic>LITAF</italic> polymorphism. <italic>Muscle Nerve</italic> 50: 914–918, 2014</p> </abstract>