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Clinical, electrophysiological and magnetic resonance findings in a family with hereditary neuropathy with liability to pressure palsies caused by a novel PMP22 mutation.
Neuromuscul Disord. 2014 Jan; 24(1):56-62.ND

Abstract

Hereditary neuropathy with liability to pressure palsies (HNPP) is a disorder mainly caused by a 1.5-Mb deletion at 17p11.2-12 (and in some rare cases by point mutations) and clinically associated with recurrent painless palsies. Here, we performed electrophysiological (motor, sensory and terminal latency index), MRI and genetic studies in a family referred for ulnar neuropathy with pain. Surprisingly, we found typical neurophysiological features of HNPP (prolongation of distal motor latencies and diffuse SNCV slowing with significant slowing of motor nerve conduction velocities). Besides, the proband presented conduction block in left ulnar, left median and both peroneal nerves. MRI findings were consistent with an underlying neuropathy. Molecular studies identified a novel frameshift mutation in PMP22 confirming the diagnosis of HNPP. Our data suggest that neurophysiological studies are essential to characterize underdiagnosed HNPP patients referred for peripheral neuropathy. Our experience shows that MRI could be a complementary tool for the diagnosis of these patients.

Authors+Show Affiliations

Department of Clinical Neurophysiology, Hospital Universitario Cruces, Barakaldo, Bizkaia, Spain.Osatek Alta Tecnología Sanitaria S.A., Galdakao, Bizkaia, Spain.Department of Neurology, Hospital Universitario Cruces, Barakaldo, Bizkaia, Spain.Molecular (Epi)Genetic Laboratory, Research Unit, Hospital Universitario Araba-Txagorritxu, BioAraba, Vitoria-Gasteiz, Spain.Research Unit, REDISSEC: Health Services Research on Chronic Patients Network, Hospital Galdakao-Usansolo, Galdakao, Bizkaia, Spain. Electronic address: urko.aguirrelarracoechea@osakidetza.net.

Pub Type(s)

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

Language

eng

PubMed ID

24239057

Citation

Yurrebaso, Izaskun, et al. "Clinical, Electrophysiological and Magnetic Resonance Findings in a Family With Hereditary Neuropathy With Liability to Pressure Palsies Caused By a Novel PMP22 Mutation." Neuromuscular Disorders : NMD, vol. 24, no. 1, 2014, pp. 56-62.
Yurrebaso I, Casado OL, Barcena J, et al. Clinical, electrophysiological and magnetic resonance findings in a family with hereditary neuropathy with liability to pressure palsies caused by a novel PMP22 mutation. Neuromuscul Disord. 2014;24(1):56-62.
Yurrebaso, I., Casado, O. L., Barcena, J., Perez de Nanclares, G., & Aguirre, U. (2014). Clinical, electrophysiological and magnetic resonance findings in a family with hereditary neuropathy with liability to pressure palsies caused by a novel PMP22 mutation. Neuromuscular Disorders : NMD, 24(1), 56-62. https://doi.org/10.1016/j.nmd.2013.09.005
Yurrebaso I, et al. Clinical, Electrophysiological and Magnetic Resonance Findings in a Family With Hereditary Neuropathy With Liability to Pressure Palsies Caused By a Novel PMP22 Mutation. Neuromuscul Disord. 2014;24(1):56-62. PubMed PMID: 24239057.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Clinical, electrophysiological and magnetic resonance findings in a family with hereditary neuropathy with liability to pressure palsies caused by a novel PMP22 mutation. AU - Yurrebaso,Izaskun, AU - Casado,Oscar L, AU - Barcena,Joseba, AU - Perez de Nanclares,Guiomar, AU - Aguirre,Urko, Y1 - 2013/09/13/ PY - 2013/04/04/received PY - 2013/07/20/revised PY - 2013/09/05/accepted PY - 2013/11/19/entrez PY - 2013/11/19/pubmed PY - 2014/9/11/medline KW - Hereditary neuropathy with liability to pressure palsies KW - MRI KW - No recurrent palsies with pain KW - Novel mutation KW - PMP22 SP - 56 EP - 62 JF - Neuromuscular disorders : NMD JO - Neuromuscul Disord VL - 24 IS - 1 N2 - Hereditary neuropathy with liability to pressure palsies (HNPP) is a disorder mainly caused by a 1.5-Mb deletion at 17p11.2-12 (and in some rare cases by point mutations) and clinically associated with recurrent painless palsies. Here, we performed electrophysiological (motor, sensory and terminal latency index), MRI and genetic studies in a family referred for ulnar neuropathy with pain. Surprisingly, we found typical neurophysiological features of HNPP (prolongation of distal motor latencies and diffuse SNCV slowing with significant slowing of motor nerve conduction velocities). Besides, the proband presented conduction block in left ulnar, left median and both peroneal nerves. MRI findings were consistent with an underlying neuropathy. Molecular studies identified a novel frameshift mutation in PMP22 confirming the diagnosis of HNPP. Our data suggest that neurophysiological studies are essential to characterize underdiagnosed HNPP patients referred for peripheral neuropathy. Our experience shows that MRI could be a complementary tool for the diagnosis of these patients. SN - 1873-2364 UR - https://www.unboundmedicine.com/medline/citation/24239057/Clinical_electrophysiological_and_magnetic_resonance_findings_in_a_family_with_hereditary_neuropathy_with_liability_to_pressure_palsies_caused_by_a_novel_PMP22_mutation_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0960-8966(13)00957-7 DB - PRIME DP - Unbound Medicine ER -