HNPP


Also found in: Medical.
AcronymDefinition
HNPPHereditary Neuropathy with Liability to Pressure Palsies
HNPPHereditary Neuropathy with Pressure Palsies
References in periodicals archive ?
Except for in a few cases, missense mutations in PMP22 are believed to often lead to toxic gain-of-function and result in the CMT1 phenotype, while nonsense and frameshift mutations cause haploinsufficiency of PMP22 and result in the HNPP phenotype.[sup][25],[26],[27] In our study, patients with the G107D mutation in PMP22 showed typical CMT1 features.
We included 17 axonal neuropathy (AN) patients, 11 vasculitic neuropathy (VN) patients and 12 hereditary neuropathy with liability to pressure palsy (HNPP) who had undergone sural and superficial peroneal nerve biopsy as part of the diagnostic work-up of their neuropathy and whose nerve biopsy specimens were suitable for the immunohistochemical analysis.
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 ?
A novel PMP22 point mutation causing HNPP phenotype: studies on nerve xenografts.
Although there are rare reports of HNPP with central nervous system (CNS) lesions (4), the diagnosis of hereditary polyneuropathy may only be a coincidence.
Sequencing of alleles was performed mainly on genomic DNA from HNPP patients.
A clinically distinct hereditary neuropathy with liability to pressure palsy (HNPP) has been found allelic to CMT1A, in which deletion of the same 1.4-Mb region is responsible for the disease.
Two examples of diseases caused by alterations in gene dosage are the autosomal dominant demyelinating peripheral neuropathy Charcot-Marie-Tooth disease type 1A (CMT1A) [1] and hereditary neuropathy with liability to pressure palsies (HNPP).
The PMP22 gene is extremely sensitive to copy number; for example, it is duplicated in the autosomal dominant Charcot-Marie Tooth type I (CMT1A) disease and is deleted in the autosomal dominant hereditary neuropathy with liability to pressure palsies (HNPP).
Two well-documented diseases known to be caused by gene copy number alterations are the hereditary peripheral neuropathies Charcot-Marie-Tooth type 1A (CMT1A) [1] and hereditary neuropathy with liability to pressure palsies (HNPP).