Hereditary neuropathy with liability to pressure palsies

Definition:

Hereditary neuropathy with liability to pressure palsy (HNPP) is a rare autosomal dominant peripheral neuropathy characterized by compressive focal neuropathies and an underlying sensorimotor demyelinative polyneuropathy. HNPP is caused by a peripheral myelin protein (PMP22) gene deletion. PMP22 is duplicated in Charcot-Marie-Tooth disease type 1A (CMT1A). The other identified underlying genetic defects in HNPP are point mutations in PMP22 that lead to premature or delayed translation.

References:

[1]. Hiroyuki Nodera, et al. HNPP due to a novel missense mutation of the PMP22 gene. Neurology. 2003 Jun 10;60(11):1863-4. [Content Brief]

[2]. Neeraj Kumar, et al. Phenotypic Variability Leads to Under-recognition of HNPP. J Clin Neuromuscul Dis. 2002 Mar;3(3):106-12. [Content Brief]

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