{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,31]],"date-time":"2026-08-31T12:19:32Z","timestamp":1788178772783,"version":"build-2803163510"},"reference-count":22,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,8,31]],"date-time":"2026-08-31T00:00:00Z","timestamp":1788134400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,8,31]],"date-time":"2026-08-31T00:00:00Z","timestamp":1788134400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100005609","name":"University of Turku","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100005609","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Neurogenetics"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Pathogenic variants of\n                    <jats:italic>PMP22<\/jats:italic>\n                    cause Charcot-Marie-Tooth disease type 1\u00a0A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP). As CMT1A is the most common inherited neuropathy and the most common pathogenic\n                    <jats:italic>PMP22<\/jats:italic>\n                    variants are duplications and deletions, focused analysis of this gene remains relevant in the era of large gene panels and exome studies. We investigated the use and findings of\n                    <jats:italic>PMP22<\/jats:italic>\n                    gene analyses carried out at Turku University Hospital (TUH; Turku, Finland) in 2005\u20132020. Using the electronic medical record system at TUH, we identified all patients who underwent\n                    <jats:italic>PMP22<\/jats:italic>\n                    genetic diagnostic testing in 2005\u20132020. Data on testing indication, clinical features, relevant family history, genetic testing results, and final neurological diagnoses were collected. Out of total 244 tests, 64 (26%) provided a diagnostic finding. The diagnostic yield was 33% for\n                    <jats:italic>PMP22<\/jats:italic>\n                    deletions that were the most common variants (58%), and 23% for\n                    <jats:italic>PMP22<\/jats:italic>\n                    duplications. Highest yield (45%) was in patients with both clinical presentation and family history suggestive of a genetic neuropathy. The yearly diagnostic incidence of\n                    <jats:italic>PMP22<\/jats:italic>\n                    related neuropathies during the study period was 0.89\/100 000; 0.6\/100 000 for\n                    <jats:italic>PMP22<\/jats:italic>\n                    deletions and 0.4\/100 000 for\n                    <jats:italic>PMP22<\/jats:italic>\n                    duplications. In clinical diagnostic use of the\n                    <jats:italic>PMP22<\/jats:italic>\n                    gene analyses, the majority of diagnostic findings were related to HNPP rather than CMT1A. We suggest that HNPP merits more research attention.\n                  <\/jats:p>","DOI":"10.1007\/s10048-026-00930-2","type":"journal-article","created":{"date-parts":[[2026,8,31]],"date-time":"2026-08-31T12:02:14Z","timestamp":1788177734000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["PMP22 gene diagnostic testing in Southwest Finland in 2005\u20132020. An observational, register-based study"],"prefix":"10.1007","volume":"27","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-8800-5775","authenticated-orcid":false,"given":"Pii M.","family":"Pankakoski","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mika H.","family":"Martikainen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,8,31]]},"reference":[{"issue":"5","key":"930_CR1","first-page":"1224","volume":"26","author":"C Klein","year":"2020","unstructured":"Klein C (2020) Charcot-marie-tooth disease and other hereditary neuropathies. Peripheral Nerve Motor Neuron Disorders 26(5):1224\u20131256","journal-title":"Peripheral Nerve Motor Neuron Disorders"},{"key":"930_CR2","unstructured":"Nagappa M, Shivani Arun S, Affiliations T (2024) StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing. Charcot-marie-tooth disease continuing education activity. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK562163\/?report=printable"},{"issue":"2","key":"930_CR3","doi-asserted-by":"publisher","first-page":"673","DOI":"10.1007\/s12035-012-8370-x","volume":"47","author":"J Li","year":"2013","unstructured":"Li J, Parker B, Martyn C, Natarajan C, Guo J (2013) The PMP22 gene and its related diseases. Mol Neurobiol 47(2):673\u2013698","journal-title":"Mol Neurobiol"},{"key":"930_CR4","doi-asserted-by":"crossref","unstructured":"Van Paassen BW, Van Der Kooi AJ, Van Spaendonck-Zwarts KY, Verhamme C, Baas F, De Visser M (2014) PMP22 related neuropathies: Charcot-marie-tooth disease type 1A and hereditary neuropathy with liability to pressure palsies. Orphanet J Rare Dis 9(38)","DOI":"10.1186\/1750-1172-9-38"},{"issue":"3","key":"930_CR5","doi-asserted-by":"publisher","first-page":"462","DOI":"10.1016\/j.ajhg.2014.01.017","volume":"94","author":"P Liu","year":"2014","unstructured":"Liu P, Gelowani V, Zhang F, Drory VE, Ben-Shachar S, Roney E et al (2014) Mechanism, prevalence, and more severe neuropathy phenotype of the charcot-marie-tooth type 1A triplication. Am J Hum Genet 94(3):462\u2013469","journal-title":"Am J Hum Genet"},{"issue":"8","key":"930_CR6","doi-asserted-by":"publisher","first-page":"529","DOI":"10.1016\/S0960-8966(97)00100-4","volume":"7","author":"P Meretoja","year":"1997","unstructured":"Meretoja P, Silander K, Kalimo H, Aula P, Meretoja A, Savontaus ML (1997) Epidemiology of hereditary neuropathy with liability to pressure palsies (HNPP) in south western Finland. Neuromuscul Disord 7(8):529\u2013532","journal-title":"Neuromuscul Disord"},{"key":"930_CR7","doi-asserted-by":"crossref","unstructured":"Parmar JM, Laing NG, Kennerson ML, Ravenscroft G (2024) Genetics of inherited peripheral neuropathies and the next frontier: Looking backwards to progress forwards. J Neurol Neurosurg Psychiatry 95(11):992\u20131001","DOI":"10.1136\/jnnp-2024-333436"},{"key":"930_CR8","unstructured":"Chrestian N Hereditary Neuropathy with Liability to Pressure Palsies. In: Adam MP, Feldman J, Mirzaa GM, editors. GeneReviews\u00ae [Internet] [Internet]. Seattle (WA); 1998 [cited 2025 Mar 26]. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1392\/"},{"issue":"6\u20137","key":"930_CR9","doi-asserted-by":"publisher","first-page":"498","DOI":"10.1016\/j.neurol.2014.12.003","volume":"171","author":"A Echaniz-Laguna","year":"2015","unstructured":"Echaniz-Laguna A (2015) The shifting paradigm of Charcot-Marie-Tooth disease. Rev Neurol (Paris) 171(6\u20137):498\u2013504","journal-title":"Rev Neurol (Paris)"},{"key":"930_CR10","doi-asserted-by":"publisher","first-page":"1260","DOI":"10.1136\/jnnp.57.10.1260","volume":"57","author":"K Silander","year":"1994","unstructured":"Silander K, Halonen P, Sara R, Kalimo H, Falck B, Savontaus ML et al (1994) DNA analysis in Finnish patients with hereditary neuropathy with liability to pressure palsies (HNPP). Neurosurg Psychiatry 57:1260\u20131262","journal-title":"Neurosurg Psychiatry"},{"issue":"3","key":"930_CR11","doi-asserted-by":"publisher","first-page":"363","DOI":"10.1111\/jns.12651","volume":"29","author":"J Roggenbuck","year":"2024","unstructured":"Roggenbuck J, Morales A, Ellis CA, Dratch L, Stetler M, Tan CA et al (2024) Diagnostic and clinical utility of comprehensive multigene panel testing for patients with neuropathy. J Peripheral Nerv Syst 29(3):363\u2013367","journal-title":"J Peripheral Nerv Syst"},{"issue":"9","key":"930_CR12","doi-asserted-by":"publisher","first-page":"3144","DOI":"10.1093\/brain\/awae064","volume":"147","author":"CJ Record","year":"2024","unstructured":"Record CJ, Pipis M, Skorupinska M, Blake J, Poh R, Polke JM et al (2024) Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease. Brain 147(9):3144\u20133156","journal-title":"Brain"},{"issue":"5","key":"930_CR13","first-page":"405","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J et al (2015) Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology. 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Eur J Hum Genet 4(1):25\u201333","journal-title":"Eur J Hum Genet"},{"issue":"2","key":"930_CR16","doi-asserted-by":"publisher","first-page":"358","DOI":"10.1002\/ana.20777","volume":"59","author":"ME Shy","year":"2006","unstructured":"Shy ME, Scavina MT, Clark A, Krajewski KM, Li J, Kamholz J et al (2006) T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy. Ann Neurol 59(2):358\u2013364","journal-title":"Ann Neurol"},{"key":"930_CR17","doi-asserted-by":"crossref","unstructured":"Record CJ, Laura M, Rossor AM, Reilly MM (2023) The role of PMP22 T118M in Charcot\u2013Marie\u2013Tooth disease remains unsolved. J Biol Chem 299(9)","DOI":"10.1016\/j.jbc.2023.105180"},{"key":"930_CR18","doi-asserted-by":"crossref","unstructured":"Stefanski KM, Li GC, Marinko JT, Carter BD, Samuels DC, Sanders CR (2023) How T118M peripheral myelin protein 22 predisposes humans to Charcot\u2013Marie\u2013Tooth disease. J Biol Chem 299(2)","DOI":"10.1016\/j.jbc.2022.102839"},{"issue":"1\u20132","key":"930_CR19","doi-asserted-by":"publisher","first-page":"34","DOI":"10.1159\/000478860","volume":"49","author":"M Marttila","year":"2017","unstructured":"Marttila M, Kyt\u00f6vuori L, Helisalmi S, Kallio M, Laitinen M, Hiltunen M et al (2017) Molecular Epidemiology of Charcot-Marie-Tooth Disease in Northern Ost. Neuroepidemiology 49(1\u20132):34\u201339","journal-title":"Neuroepidemiology"},{"key":"930_CR20","doi-asserted-by":"crossref","unstructured":"Holmberg B (1993) Charcot-Marie-Tooth disease in northern Sweden - an epidemiological and clinical study. 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J Neurol 267(8):2198\u20132206","journal-title":"J Neurol"}],"container-title":["Neurogenetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10048-026-00930-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10048-026-00930-2","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10048-026-00930-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,31]],"date-time":"2026-08-31T12:02:23Z","timestamp":1788177743000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10048-026-00930-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,8,31]]},"references-count":22,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,12]]}},"alternative-id":["930"],"URL":"https:\/\/doi.org\/10.1007\/s10048-026-00930-2","relation":{},"ISSN":["1364-6753"],"issn-type":[{"value":"1364-6753","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,8,31]]},"assertion":[{"value":"20 May 2026","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 August 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"31 August 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"This study was approved by TUH (research permission TO4\/016\/16). Given its retrospective, registry-based design, individual informed consent was waived by the TUH Ethical Committee. All research was conducted in accordance with the Declaration of Helsinki.","order":1,"name":"Ethics","label":"Compliance with ethical standards","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Mika H. Martikainen reports a relationship with AbbVie Inc that includes: travel reimbursement. Mika H. Martikainen reports a relationship with Teva Pharmaceutical Industries Ltd that includes: travel reimbursement. Mika H. Martikainen reports a relationship with Orion Corporation that includes: equity or stocks. Other authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.","order":2,"name":"Ethics","label":"Competing interests","group":{"name":"EthicsHeading","label":"Declarations"}}],"article-number":"60"}}