{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T20:57:02Z","timestamp":1790629022674,"version":"4.1.0"},"reference-count":23,"publisher":"BMJ","issue":"11","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Neurol Neurosurg Psychiatry"],"published-print":{"date-parts":[[2018,11]]},"abstract":"<jats:sec><jats:title>Objectives<\/jats:title><jats:p>Schwannomatosis is a dominantly inherited condition predisposing to schwannomas of mainly spinal and peripheral nerves with some diagnostic overlap with neurofibromatosis-2 (NF2), but the underlying epidemiology is poorly understood. We present the birth incidence and prevalence allowing for overlap with NF2.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Schwannomatosis and NF2 cases were ascertained from the Manchester region of England (population=4.8 million) and from across the UK. Point prevalence and birth incidence were calculated from regional birth statistics. Genetic analysis was also performed on <jats:italic>NF2<\/jats:italic>, <jats:italic>LZTR1<\/jats:italic> and <jats:italic>SMARCB1<\/jats:italic> on blood and tumour DNA samples when available.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Regional prevalence for schwannomatosis and NF2 were 1 in 126 315 and 50 500, respectively, with calculated birth incidences of 1 in 68 956 and 1 in 27 956. Mosaic <jats:italic>NF2<\/jats:italic> causes a substantial overlap with schwannomatosis resulting in the misdiagnosis of at least 9% of schwannomatosis cases. <jats:italic>LZTR1<\/jats:italic>-associated schwannomatosis also causes a small number of cases that are misdiagnosed with NF2 (1%\u20132%), due to the occurrence of a unilateral vestibular schwannoma. Patients with\u00a0schwannomatosis had lower numbers of non-vestibular cranial schwannomas, but more peripheral and spinal nerve schwannomas with pain as a predominant presenting symptom. Life expectancy was significantly better in schwannomatosis (mean age at death 76.9) compared with NF2 (mean age at death 66.2; p=0.004).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Within the highly ascertained North-West England population, schwannomatosis has less than half the birth incidence and prevalence of NF2.<\/jats:p><\/jats:sec>","DOI":"10.1136\/jnnp-2018-318538","type":"journal-article","created":{"date-parts":[[2018,6,16]],"date-time":"2018-06-16T16:25:21Z","timestamp":1529166321000},"page":"1215-1219","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":147,"title":["Schwannomatosis: a genetic and epidemiological study"],"prefix":"10.1136","volume":"89","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8482-5784","authenticated-orcid":false,"given":"D Gareth","family":"Evans","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naomi 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