This study was financed by grant NN 402 27 63 36 to A.K.
Clinical, electrophysiological, and molecular findings in early onset hereditary neuropathy with liability to pressure palsy
Article first published online: 30 OCT 2014
© 2014 Wiley Periodicals, Inc.
Muscle & Nerve
Volume 50, Issue 6, pages 914–918, December 2014
How to Cite
Potulska-Chromik, A., Sinkiewicz-Darol, E., Ryniewicz, B., Lipowska, M., Kabzińska, D., Kochański, A. and Kostera-Pruszczyk, A. (2014), Clinical, electrophysiological, and molecular findings in early onset hereditary neuropathy with liability to pressure palsy. Muscle Nerve, 50: 914–918. doi: 10.1002/mus.24250
- Issue published online: 21 NOV 2014
- Article first published online: 30 OCT 2014
- Accepted manuscript online: 26 MAR 2014 12:37AM EST
- Manuscript Accepted: 21 MAR 2014
- Charcot-Marie-Tooth disease;
- childhood hereditary neuropathy;
- hereditary neuropathy with liability to pressure palsy;
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. Muscle Nerve 50: 914–918, 2014