HNPP


Also found in: Medical.
AcronymDefinition
HNPPHereditary Neuropathy with Liability to Pressure Palsies
HNPPHereditary Neuropathy with Pressure Palsies
References in periodicals archive ?
The group of HNPP consisted of six men and six women with a median age of 26 years (range 17-40).
NF[kappa]B and RAGE immunoreactivities were higher in patients with VN than in those with AN and HNPP (p<0.
TABLE 1 Clinical and genetic classification of hereditary motor and sensory neuropathy, with the linked locus and gene if known (Pestronk 2004) Pattern of Inhe- CMT-Type ritance Phenotype Locus Gene (s) Demyeli- Dominant CMT1A 17p11 PMP22 nating CMT1B; CMT1E 1q22 MPZ CMT1C 16p13 LITAF CMT1D 10q21 ERG2 CMT1F 8p21 NEFL HNPP l7p11 PMP22-deletion HMSN3 (Dejerine- PMP22/MPZ/ Sottas) EGR2/8q23 Thermosensitive ?
HNPP patients are hemizygous for the region duplicated in CMT1A patients.
Visualization of the CMT1A duplication and HNPP deletion by FISH on stretched chromosomes fibers.
Several methods have been used in clinical laboratories for the molecular diagnosis of CMT1A and HNPP (10).
PCR-based data of HNPP deletions are typically less robust because they do not allow direct detection of the deletion, but only infer the deletion by detecting a single allele for any marker tested.
Molecular diagnosis of CMT1A and HNPP involves detection of the DNA duplication or deletion located at the 17p11.
In this study, we describe a rapid strategy to determine gene dosage in CMT1A and HNPP patients based on real-time fluorescent PCR.
The PMP22/NF1 ratios for CMT1A, unaffected, and HNPP samples were ~1.
Molecular diagnosis of CMT1A or HNPP involves the detection of the respective DNA duplication or deletion.
The techniques used for the molecular diagnosis of CMT1A and HNPP have several limitations.