<i>PMP22</i>-Related Neuropathies: A Systematic Review.

ABSTRACT: Background. PMP22-related neuropathies comprise a spectrum of predominantly demyelinating disorders, most commonly Charcot-Marie-Tooth type 1A (CMT1A; 17p12 duplication) and hereditary neuropathy with liability to pressure palsies (HNPP; 17p12 deletion), with rarer phenotypes due to PMP22 sequence variants (CMT1E, Dejerine-Sottas syndrome [DSS]). Methods. We conducted a PRISMA-compliant systematic review (PROSPERO ID: 1139921) of PubMed and Scopus (January 2015-August 2025). Eligible studies reported genetically confirmed PMP22-related neuropathies with clinical and/or neurophysiological data. Owing to heterogeneous reporting, we synthesized pooled counts and proportions without meta-analysis, explicitly tracking missing denominators. Results. One

SUBMITTER: Cesaroni CA 

PROVIDER: S-EPMC12652021 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature