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Muscle Nerve. 2014 Dec;50(6):914-8. doi: 10.1002/mus.24250. Epub 2014 Oct 30.

Clinical, electrophysiological, and molecular findings in early onset hereditary neuropathy with liability to pressure palsy.

Author information

1
Department of Neurology, Medical University of Warsaw, Banacha 1a Street, 02-097, Warsaw, Poland.

Abstract

INTRODUCTION:

The first episode of hereditary neuropathy with liability to pressure palsy (HNPP) in childhood is rare.

METHODS:

We analyzed retrospectively the data of 7 patients with a deletion in PMP22 and onset of symptoms before age 18 years. Direct sequencing of the LITAF (lipopolysaccharide-induced tumor necrosis factor) gene was performed in patients and family members.

RESULTS:

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 LITAF 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.

CONCLUSIONS:

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 LITAF polymorphism.

KEYWORDS:

Charcot-Marie-Tooth disease; LITAF; PMP22; childhood hereditary neuropathy; hereditary neuropathy with liability to pressure palsy

PMID:
24668782
DOI:
10.1002/mus.24250
[Indexed for MEDLINE]

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