Prevalence and natural history of schwannomas in Neurofibromatosis type 2 (NF2): the influence of pathogenic variants

Autor: Daniel Moualed, Jonathan Wong, Owen Thomas, Calvin Heal, Rukhtam Saqib, Cameron Choi, Simon Lloyd, Scott Rutherford, Emma Stapleton, Charlotte Hammerbeck-Ward, Omar Pathmanaban, Roger Laitt, Miriam Smith, Andrew Wallace, Mark Kellett, Gareth Evans, Andrew King, Simon Freeman

Publikováno v: Moualed, D, Wong, J, Thomas, O, Heal, C, Saqib, R, Choi, C, Lloyd, S, Rutherford, S A, Stapleton, E, Hammerbeck-ward, C, Pathmanaban, O, Laitt, R, Smith, M, Wallace, A, Kellett, M, Evans, G, King, A & Freeman, S 2022, ' Prevalence and natural history of schwannomas in Neurofibromatosis type 2 (NF2): the influence of pathogenic variants ', European Journal of Human Genetics, vol. 30, no. 4, pp. 458-464 . https://doi.org/10.1038/s41431-021-01029-y
Eur J Hum Genet

Aims: To characterise the natural history of vestibular, trigeminal and lower cranial nerve schwannomas (VS, TS, LCNS) in patients with Neurofibromatosis type 2 (NF2). To understand how pathogenic variants (PVs) of the NF2 gene affect tumour burden a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e78568512549322abcc754a61c58af03
https://doi.org/10.1038/s41431-021-01029-y

Identifying the deficiencies of current diagnostic criteria for neurofibromatosis 2 using databases of 2777 individuals with molecular testing

Autor: Omar N. Pathmanaban, Mary Perry, Patrick R. Axon, Dorothy Halliday, Miriam J. Smith, Owen M. Thomas, Roger Laitt, Allyson Parry, Juliette Gair, Mark Kellett, Elaine F. Harkness, Emma Stapleton, Rosalie E. Ferner, Simon R. Freeman, Andrew J Wallace, Simon K.L. Lloyd, Scott A. Rutherford, Naomi L. Bowers, Andrew T. King, Shazia K. Afridi, Raji Anup, Simon Tobi, D. Gareth Evans, Charlotte Hammerbeck-Ward

Publikováno v: The English Specialist NF2 research group 2019, ' Identifying the deficiencies of current diagnostic criteria for neurofibromatosis 2 using databases of 2777 individuals with molecular testing ', Genetics in Medicine, vol. 21, no. 7, pp. 1525-1533 . https://doi.org/10.1038/s41436-018-0384-y

Purpose: We have evaluated deficiencies in existing diagnostic criteria for neurofibromatosis 2 (NF2). Methods: Two large databases of individuals fulfilling NF2 criteria (n=1361) and those tested for NF2 variants with criteria short of diagnosis (n=

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19696baad021980a995634cd55e5d0b5
https://doi.org/10.1038/s41436-018-0384-y

Schwannomatosis: a genetic and epidemiological study

Autor: Simon R. Freeman, Owen M. Thomas, Claire Hartley, Chris Duff, Roger Laitt, Omar N. Pathmanaban, Miriam J. Smith, Andrew J Wallace, D. Gareth Evans, Simon K W Lloyd, Rosalie E. Ferner, John Ealing, Naomi L. Bowers, Scott A. Rutherford, Amy Taylor, Charlotte Hammerbeck-Ward, Dorothy Halliday, Mark Kellett, Simon Tobi, Andrew T. King, Elaine F. Harkness

Publikováno v: Evans, D G, Bowers, N L, Tobi, S, Hartley, C, Wallace, A J, King, A T, Lloyd, S K W, Rutherford, S A, Hammerbeck-Ward, C, Pathmanaban, O N, Freeman, S R, Ealing, J, Kellett, M, Laitt, R, Thomas, O, Halliday, D, Ferner, R, Taylor, A, Duff, C, Harkness, E F & Smith, M J 2018, ' Schwannomatosis: a genetic and epidemiological study ', Journal of Neurology, Neurosurgery and Psychiatry, vol. 89, no. 11, pp. 1215-1219 . https://doi.org/10.1136/jnnp-2018-318538

ObjectivesSchwannomatosis 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 pre

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c29c0c07933bb46d6a6fcfe1285e610e
https://doi.org/10.1136/jnnp-2018-318538

Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencing

Autor: D Gareth, Evans, Claire L, Hartley, Philip T, Smith, Andrew T, King, Naomi L, Bowers, Simon, Tobi, Andrew J, Wallace, Mary, Perry, Raji, Anup, Simon K W, Lloyd, Scott A, Rutherford, Charlotte, Hammerbeck-Ward, Omar N, Pathmanaban, Emma, Stapleton, Simon R, Freeman, Mark, Kellett, Dorothy, Halliday, Allyson, Parry, Juliette J, Gair, Patrick, Axon, Roger, Laitt, Owen, Thomas, Shazia K, Afridi, Rupert, Obholzer, Chris, Duff, Stavros M, Stivaros, Grace, Vassallo, Elaine F, Harkness, Miriam J, Smith

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics. 22(1)

To evaluate the incidence of mosaicism in de novo neurofibromatosis 2 (NF2).Patients fulfilling NF2 criteria, but with no known affected family member from a previous generation (n = 1055), were tested for NF2 variants in lymphocyte DNA and where ava

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::4180806d99a2fcb91a0ac5e93f02c147
https://pubmed.ncbi.nlm.nih.gov/31273341

Randomized clinical trial of topiramate for levodopa-induced dyskinesia in Parkinson's disease

Autor: Monty Silverdale, Alan R. Crossman, David J. Burn, Lewis Kass-Iliyya, Christopher Kobylecki, Mark Kellett

Publikováno v: Parkinsonism & Related Disorders. 20:452-455

Background The antiepileptic drug topiramate reduces levodopa-induced dyskinesia without exacerbating parkinsonism in animal models. We report a randomized, double-blind, placebo-controlled crossover trial in patients with Parkinson's disease and lev

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f8cadd6d841440bb6ce2f196adb8f39
https://doi.org/10.1016/j.parkreldis.2014.01.016