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.

scholarly journals Hereditary Neuropathy with Liability to Pressure Palsies: Case Report and Discussion

2007 ◽  
Vol 3 (2) ◽  
pp. 208-212 ◽  
Author(s):  
Marc J. Grossman ◽  
Joseph Feinberg ◽  
Edward F. DiCarlo ◽  
Sherri B. Birchansky ◽  
Scott W. Wolfe
Keyword(s):  
Case Report ◽  
Hereditary Neuropathy ◽  
Pressure Palsies

Quantitative measurement of duplicated DNA as a diagnostic test for Charcot-Marie-Tooth disease type 1a

1993 ◽  
Vol 39 (9) ◽  
pp. 1845-1849 ◽  
Author(s):  
G W Hensels ◽  
E A Janssen ◽  
J E Hoogendijk ◽  
L J Valentijn ◽  
F Baas ◽  
...  
Keyword(s):  
Preliminary Investigation ◽  
Sensory Neuropathy ◽  
Disease Type ◽  
Chromosome 17 ◽  
Hereditary Neuropathy ◽  
Chromosomal Dna ◽  
Gene Encoding ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

Abstract Charcot-Marie-Tooth disease type 1 (CMT1) is a hereditary motor and sensory neuropathy. The autosomal dominant subtype is often linked with a large duplication on chromosome 17p11.2. The gene encoding the peripheral myelin protein PMP 22 (the critical gene in this subtype of CMT1) is located within this duplication. To detect this duplication in chromosomal DNA from individuals thought to have CMT1, we compared the hybridization signals of two DNA probes within this duplication (VAW412R3a and VAW409R3a) with the signal of a reference probe (E3.9). When duplication was present, the signals from the first two probes increased from 100% (for nonduplicated samples) to 145% and 142%, respectively. The day-to-day variance was 3.7% and 5.1%, respectively. We demonstrated this DNA duplication in 49 of 95 DNA samples from unrelated individuals thought to have CMT1. Moreover, because hereditary neuropathy with liability to pressure palsies (HNPP) is based on a DNA deletion in the same area of chromosome 17, this quantitative test may be useful in establishing the presence of HNPP. In a preliminary investigation, four unrelated patients with HNPP yielded test values of 63% and 54%, respectively, of those for nonduplicated samples (CV 19% and 18%, respectively; n = 4), suggesting a deletion in 17p11.2.

scholarly journals Partial Gene Deletions ofPMP22Causing Hereditary Neuropathy with Liability to Pressure Palsies

2014 ◽  
Vol 2014 ◽  
pp. 1-3 ◽  
Author(s):  
Sun-Mi Cho ◽  
Bo Young Hong ◽  
Yoonjung Kim ◽  
Sang Guk Lee ◽  
Jin-Young Yang ◽  
...  
Keyword(s):  
Point Mutations ◽  
Hereditary Neuropathy ◽  
Promoter Regions ◽  
Gene Deletions ◽  
Peripheral Myelin Protein 22 ◽  
Peripheral Myelin Protein ◽  
Pressure Palsies ◽  
Clinical Variation ◽  
Copy Number Changes ◽  
Dependent Probe

Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal neuropathy that is commonly caused by a reciprocal 1.5 Mb deletion on chromosome 17p11.2, at the site of the peripheral myelin protein 22 (PMP22) gene. Other patients with similar phenotypes have been shown to harbor point mutations or small deletions, although there is some clinical variation across these patients. In this report, we describe a case of HNPP with copy number changes in exon or promoter regions ofPMP22. Multiplex ligation-dependent probe analysis revealed an exon 1b deletion in the patient, who had been diagnosed with HNPP in the first decade of life using molecular analysis.

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

Gene for hereditary neuropathy with liability to pressure palsies (HNPP) maps to chromosome 17 at or close to the locus for HMSN type 1

1993 ◽  
Vol 92 (1) ◽  
pp. 87-90 ◽  
Author(s):  
Edwin C. M. Mariman ◽  
Anneke A. W. M. Gabreëls-Festen ◽  
Sylvia E. C. van Beersum ◽  
Peter J. H. Jongen ◽  
Hans-Hilger Ropers ◽  
...  
Keyword(s):  
Chromosome 17 ◽  
Hereditary Neuropathy ◽  
Pressure Palsies

Elderly-onset case of hereditary neuropathy with liability to pressure palsies: A case report

2018 ◽  
Vol 6 (5) ◽  
pp. 141-142
Author(s):  
Tatsuya Sato ◽  
Risa Maekawa ◽  
Akihiko Mitsutake ◽  
Junko Katsumata ◽  
Tomonari Seki ◽  
...  
Keyword(s):  
Case Report ◽  
Hereditary Neuropathy ◽  
Elderly Onset ◽  
Pressure Palsies

scholarly journals Molecular diagnosis of Charcot-Marie-Tooth 1A disease and hereditary neuropathy with liability to pressure palsies by quantifying CMT1A-REP sequences: consequences of recombinations at variant sites on chromosomes 17p11.2-12

1996 ◽  
Vol 42 (7) ◽  
pp. 1021-1025 ◽  
Author(s):  
A Vandenberghe ◽  
P Latour ◽  
G Chauplannaz ◽  
F Chapon ◽  
J Pouget ◽  
...  
Keyword(s):  
Chromosome 17 ◽  
Hereditary Neuropathy ◽  
Ecori Site ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Repeat Sequences ◽  
Pressure Palsies ◽  
Almost All ◽  
Recombination Breakpoints ◽  
Tooth Disease

Abstract The most frequent form of Charcot-Marie-Tooth disease (CMT1A; OMIM118.220) is the result of a duplication on chromosome 17 in pll.2-p12. This region contains PMP22, a gene expressed in peripheral myelin. The mutation results from an unequal crossing-over involving repeated sequences, CMT1A-REP, located on both sides of the duplicated region. The reciprocal product of this recombination is a deletion of the same region, which is associated with hereditary neuropathy with liability to pressure palsies (HNPP; OMIM162.500). Proximal and distal CMT1A-REP sequences can be distinguished by the presence of a variant EcoRI site. We quantified the number of these repeat sequences in 36 CMT1A and 40 HNPP patients. CMT1A-REP sequences are involved in almost all of the mutations. The majority of recombination breakpoints occur distally from the variant EcoRI site. However, a few have a breakpoint proximal to this site, which creates the risk of misinterpretation with respect to a duplicated/deleted status.

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