hereditary neuropathy with pressure palsies

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hereditary neuropathy with pressure palsies

An autosomal dominant disorder (OMIM:162500) characterised by transient episodes of decreased perception or peripheral nerve palsies after slight traction, compression or minor trauma.

Molecular pathology
Defects in PMP22, which encodes peripheral myelin protein 22, cause hereditary neuropathy with pressure palsies.
References in periodicals archive ?
NF[kappa]B and RAGE immunoreactive endoneurial cells were more than 10 in each fascicule in 40% of patients with VN and endoneurial immunoreactivities to NF[kappa]B and RAGE were higher in VN patients than in AN and HNPP patients.
In AN patients, all NF[kappa]B and RAGE positive cells were macrophages, whereas all NF[kappa]B and RAGE positive cells were Schwann cells in HNPP patients (Figure 3b, c).
In this study we aimed to compare vasculitic neuropathy and axonal neuropathy without an identifiable cause because both groups show axonal degeneration in their pathology and a demyelinating hereditary neuropathy HNPP as a control group.
Human meiotic recombination products revealed by sequencing a hotspotfor homologous strand exchange in multiple HNPP deletion patients.
Fine mapping of de novo CMT1A and HNPP rearrangements within CMT1A-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination.
4] Nonstandard abbreviations: CMT, Charcot-Marie-Tooth; PMP22, peripheral myelin protein 22; RFLP, restriction fragment length polymorphism; STR, short tandem repeat; BAC, bacterial artificial chromosome; and HNPP, hereditary neuropathy with liability to pressure palsies.
Molecular mechanisms for CMT1A duplication and HNPP deletion [Review].
Molecular diagnosis of CMT1A and HNPP Charcot-Marie-Tooth disease type 1A; and hereditary neuropathy with liability to pressure palsy [Review].
DNA analysis was carried out on 16 patients with HNPP and 4 patients with CMT1A as well as in their parents when available.
The 16 diagnosed HNPP samples included 3 heterozygous, 10 wild-type homozygous (+31C), and 3 polymorphic homozygous (+31T).
We report the development of a rapid PCR-based relative DNA quantitation technique that allows the detection of duplications and deletions in a single reaction and overcomes many of the problems associated with the molecular diagnosis of CMT1A and HNPP.
DNA was extracted from blood samples of unrelated individuals in which the diagnosis of CMT1A (50 individuals) and HNPP (30 individuals) had been determined previously by PFGE (14).