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Clinical, electrophysiological, and molecular findings in early onset hereditary neuropathy with liability to pressure palsy.
Muscle Nerve. 2014 Dec; 50(6):914-8.MN

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.

Links

Publisher Full Text (DOI)

Authors+Show Affiliations

Potulska-Chromik A
Department of Neurology, Medical University of Warsaw, Banacha 1a Street, 02-097, Warsaw, Poland.
Sinkiewicz-Darol E
No affiliation info available
Ryniewicz B
No affiliation info available
Lipowska M
No affiliation info available
Kabzińska D
No affiliation info available
Kochański A
No affiliation info available
Kostera-Pruszczyk A
No affiliation info available

MeSH

AdolescentAge FactorsAge of OnsetArthrogryposisChildChild, PreschoolElectrophysiologyFemaleGene DeletionGenetic Predisposition to DiseaseGenetic TestingHereditary Sensory and Motor NeuropathyHumansMaleMyelin ProteinsNeural ConductionNuclear ProteinsPolymorphism, GeneticRetrospective StudiesTranscription Factors

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

24668782

Citation

Potulska-Chromik, Anna, et al. "Clinical, Electrophysiological, and Molecular Findings in Early Onset Hereditary Neuropathy With Liability to Pressure Palsy." Muscle & Nerve, vol. 50, no. 6, 2014, pp. 914-8.
Potulska-Chromik A, Sinkiewicz-Darol E, Ryniewicz B, et al. Clinical, electrophysiological, and molecular findings in early onset hereditary neuropathy with liability to pressure palsy. Muscle Nerve. 2014;50(6):914-8.
Potulska-Chromik, A., Sinkiewicz-Darol, E., Ryniewicz, B., Lipowska, M., Kabzińska, D., Kochański, A., & Kostera-Pruszczyk, A. (2014). Clinical, electrophysiological, and molecular findings in early onset hereditary neuropathy with liability to pressure palsy. Muscle & Nerve, 50(6), 914-8. https://doi.org/10.1002/mus.24250
Potulska-Chromik A, et al. Clinical, Electrophysiological, and Molecular Findings in Early Onset Hereditary Neuropathy With Liability to Pressure Palsy. Muscle Nerve. 2014;50(6):914-8. PubMed PMID: 24668782.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Clinical, electrophysiological, and molecular findings in early onset hereditary neuropathy with liability to pressure palsy. AU - Potulska-Chromik,Anna, AU - Sinkiewicz-Darol,Elena, AU - Ryniewicz,Barbara, AU - Lipowska,Marta, AU - Kabzińska,Dagmara, AU - Kochański,Andrzej, AU - Kostera-Pruszczyk,Anna, Y1 - 2014/10/30/ PY - 2014/03/21/accepted PY - 2014/3/27/entrez PY - 2014/3/29/pubmed PY - 2015/2/19/medline KW - Charcot-Marie-Tooth disease KW - LITAF KW - PMP22 KW - childhood hereditary neuropathy KW - hereditary neuropathy with liability to pressure palsy SP - 914 EP - 8 JF - Muscle & nerve JO - Muscle Nerve VL - 50 IS - 6 N2 - 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. SN - 1097-4598 UR - https://www.unboundmedicine.com/medline/citation/24668782/Clinical_electrophysiological_and_molecular_findings_in_early_onset_hereditary_neuropathy_with_liability_to_pressure_palsy_ DB - PRIME DP - Unbound Medicine ER -