Different nerve ultrasound patterns in charcot‐marie‐tooth types and hereditary neuropathy with liability to pressure palsies

2017 ◽  
Vol 57 (1) ◽  
Author(s):  
Luca Padua ◽  
Daniele Coraci ◽  
Marta Lucchetta ◽  
Ilaria Paolasso ◽  
Costanza Pazzaglia ◽  
...  
Keyword(s):  
Hereditary Neuropathy ◽  
Nerve Ultrasound ◽  
Charcot Marie Tooth ◽  
Pressure Palsies

scholarly journals A newly identified Thr99fsX110 mutation in the PMP22 gene associated with an atypical phenotype of the hereditary neuropathy with liability to pressure palsies.

2009 ◽  
Vol 56 (4) ◽  
Author(s):  
Izabela Moszyńska ◽  
Dagmara Kabzińska ◽  
Elena Sinkiewicz-Darol ◽  
Andrzej Kochański
Keyword(s):  
Point Mutations ◽  
Hereditary Neuropathy ◽  
Pmp22 Gene ◽  
Charcot Marie Tooth ◽  
Tooth Type ◽  
Pressure Palsies ◽  
Atypical Phenotype

Hereditary neuropathy with liability to pressure palsies (HNPP) is manifested by a spectrum of phenotypes, from the classical HNPP course associated with intermittent nerve palsies to a neuropathy resembling Charcot-Marie-Tooth type 1 (CMT1) disease. The majority of HNPP cases are associated with submicroscopical deletions in the 17p11.2-p12 region containing the PMP22 gene, while PMP22 point mutations are rare, representing about 15% of HNPP cases. In this study, we present a patient manifesting with atypical HNPP phenotype associated with a new Thr99fsX110 mutation in the PMP22 gene. We conclude that all patients who fulfill the electrophysiological criteria of HNPP, even if they lack the typical HNPP phenotype, should be tested for point mutations in the PMP22 gene.

scholarly journals Hereditary neuropathy with liability to pressure palsies: a case report

2021 ◽  
Vol 13 (4) ◽  
pp. 116-122
Author(s):  
A. K. Polynnikova ◽  
O. E. Zinovyeva ◽  
O. A. Solokha ◽  
E. V. Misyuryaeva
Keyword(s):  
Case Report ◽  
Chromosome 17 ◽  
Hereditary Neuropathy ◽  
Dna Testing ◽  
Precipitating Factors ◽  
Nerve Ultrasound ◽  
Gene Encoding ◽  
Peripheral Myelin Protein 22 ◽  
Extensor Muscles ◽  
Pressure Palsies

Hereditary neuropathy with liability to pressure palsies (HNPP) is a rare hereditary disorder characterized by recurrent episodes of nerve compression. The first attack usually occurs in the second or third decade of life. In the majority of cases, HNPP is associated with a mutation at chromosome 17 p11.2-12 comprising the gene encoding peripheral myelin protein 22 (PMP22). Here we present a case report of a 43-year-old male with HNPP confirmed by DNA testing. The patient complained of recurrent episodes of bilateral foot extensor muscles weakness and/or hyperesthesia on the outer surface of the hands and forearms, which started after a prolonged posture maintaining and without evident precipitating factors. We also describe typical clinical, electrophysiological, and nerve ultrasound characteristics of the disease.

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