{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,30]],"date-time":"2026-06-30T02:16:56Z","timestamp":1782785816833,"version":"3.54.5"},"reference-count":30,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2015,8,21]],"date-time":"2015-08-21T00:00:00Z","timestamp":1440115200000},"content-version":"vor","delay-in-days":81,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Peripheral Nervous Sys"],"published-print":{"date-parts":[[2015,6]]},"abstract":"Abstract<\/jats:title>There has been limited information from population studies regarding the overall frequency of the common 1.5\u2010Mb 17p11.2 deletion and even scarcer data regarding the overall frequency of PMP22<\/jats:styled-content><\/jats:italic> micromutations in patients with a clinical suspicion of hereditary neuropathy with liability to pressure palsies (HNPP<\/jats:styled-content>). We have analysed 100 consecutive Greek patients referred for HNPP<\/jats:styled-content> genetic testing over a 15\u2010year period to our Neurogenetics Unit in Athens, a reference centre for all regions of Greece. All patients were screened for the 1.5\u2010Mb deletion and a selected subgroup of deletion\u2010negative patients for PMP22<\/jats:styled-content><\/jats:italic> micromutations. Mutation\u2010positive and mutation\u2010negative patients were compared for various clinical parameters. In total, 54 mutation\u2010positive patients were identified. In index cases, the deletion frequency was 47.8%, and the PMP22<\/jats:styled-content><\/jats:italic> micromutation frequency was 2.2%. Within mutation\u2010positive patients, the common deletion represented 95.7% and PMP22<\/jats:styled-content><\/jats:italic> micromutations 4.3% of cases. Two previously reported PMP22<\/jats:styled-content><\/jats:italic> micromutations (c.364_365delCC and c.79\u20102A<\/jats:styled-content>>G) were detected. HNPP<\/jats:styled-content> index cases had a 2.8\u20131 male\u2010to\u2010female ratio, similar to mutation\u2010negative patients. A typical phenotype (recurrent or isolated palsies) was present in 82.4% of symptomatic HNPP<\/jats:styled-content> cases, significantly higher than mutation\u2010negative patients. Sensitivity of proposed electrophysiological diagnostic criteria for HNPP<\/jats:styled-content> was calculated at 95.7% and specificity at 80.5%. In conclusion, the common HNPP<\/jats:styled-content> deletion accounts for \u223c50% and PMP22<\/jats:styled-content><\/jats:italic> micromutations for \u223c2% of cases in a large consecutive cohort of patients with suspected HNPP<\/jats:styled-content>. The mutational and phenotypic spectrum of HNPP<\/jats:styled-content> is similar in the Greek population compared with other populations. Proposed electrophysiological diagnostic criteria perform satisfactorily in everyday clinical practice.<\/jats:p>","DOI":"10.1111\/jns.12125","type":"journal-article","created":{"date-parts":[[2015,6,25]],"date-time":"2015-06-25T09:46:17Z","timestamp":1435225577000},"page":"79-85","source":"Crossref","is-referenced-by-count":5,"title":["Mutational analysis of Greek patients with suspected hereditary neuropathy with liability to pressure palsies (HNPP<\/scp>): a 15\u2010year experience"],"prefix":"10.1111","volume":"20","author":[{"given":"Georgia","family":"Karadima","sequence":"first","affiliation":[{"name":"Neurogenetics Unit, 1st Department of Neurology, Eginition Hospital University of Athens Medical School Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georgios","family":"Koutsis","sequence":"additional","affiliation":[{"name":"Neurogenetics Unit, 1st Department of Neurology, Eginition Hospital University of Athens Medical School Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Raftopoulou","sequence":"additional","affiliation":[{"name":"Neurogenetics Unit, 1st Department of Neurology, Eginition Hospital University of Athens Medical School Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karolina\u2010Maria","family":"Karletidi","sequence":"additional","affiliation":[{"name":"Neurogenetics Unit, 1st Department of Neurology, Eginition Hospital University of Athens Medical School Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Zambelis","sequence":"additional","affiliation":[{"name":"EMG Laboratory, 1st Department of Neurology, Eginition Hospital University of Athens Medical School Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nikolaos","family":"Karandreas","sequence":"additional","affiliation":[{"name":"EMG Laboratory, 1st Department of Neurology, Eginition Hospital University of Athens Medical School Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marios","family":"Panas","sequence":"additional","affiliation":[{"name":"Neurogenetics Unit, 1st Department of Neurology, Eginition Hospital University of Athens Medical School Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,8,21]]},"reference":[{"key":"e_1_2_5_2_1","unstructured":"BirdTD(1998). 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