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1. Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study

Author

Schiava, M. Ikenaga, C. Villar-Quiles, R.N. Caballero-Ávila, M. Topf, A. Nishino, I. Kimonis, V. Udd, B. Schoser, B. Zanoteli, E. Sgobbi Souza, P.V. Tasca, G. Lloyd, T. Lopez-De Munain, A. Paradas, C. Pegoraro, E. Nadaj-Pakleza, A. De Bleecker, J. Badrising, U. Alonso-Jiménez, A. Kostera-Pruszczyk, A. Miralles, F. Shin, J.-H. Bevilacqua, J.A. Olivé, M. Vorgerd, M. Kley, R. Brady, S. Williams, T. Domínguez-González, C. Papadimas, G.K. Warman-Chardon, J. Claeys, K.G. de Visser, M. Muelas, N. LaForet, P. Malfatti, E. Alfano, L.N. Nair, S.S. Manousakis, G. Kushlaf, H.A. Harms, M.B. Nance, C. Ramos-Fransi, A. Rodolico, C. Hewamadduma, C. Cetin, H. García-García, J. Pál, E. Farrugia, M.E. Lamont, P.J. Quinn, C. Nedkova-Hristova, V. Peric, S. Luo, S. Oldfors, A. Taylor, K. Ralston, S. Stojkovic, T. Weihl, C. Diaz-Manera, J. Martinez-Piñeiro, A. Töpf, A. Kaminska, A. Mayhew, A. Rydelius, A. Behin, A. Toscano, A. Laín, A.H. Lannes, B. Velez, B. Kierdaszuk, B. De Paepe, B. Eymard, B. Cazcarra, C.M. Paradasa, C. Hedberg-Oldfors, C. Longman, C. Bettollo, C.M. Papadopoulos, C. Metay, C. Hilton-Jones, D. Zanotelli, E. Harrington, E.A. Eline, E. Gelpi, E. Rivas, E. Miralles, F. Sorarù, G. Bisogni, G. Lucente, G. Bassez, G. François, J. Chanson, J.-B. Lin, J. Skeoch, J. Palmio, J. Baets, J. Pérez, J.A. Díaz, J. Vilchez, J.J. Hudson, J. Hadzsiev, K. Bello, L. Campero, M. Sabatelli, M. Masingue, M. Monforte, M. James, M. Guglieri, M. Inoue, M. Povedano, M. Hofer, M. Olivé, M. Garcia-Angarita, N. Earle, N. Sarró, N.V. Lafôret, P. Rihard, P. de Jonghe, P. Riguzzi, P. Camaño, P. Rubio, R.D. Carlier, R. Muni-Lofra, R. Fernández-Torrón, R. Alvarez, R. Krause, S. Leonard-Louis, S. Souvannanorath, S. Klotz, S. Thiele, S. Xirou, S. Evangelista, T. Grider, T. Rakocevic-Stojanovic, V. Straub, V. Zhu, W. de Ridder, W. Kelly, W. Saito, Y. Park, Y.-E. Nishimori, Y. Sahenk, Z. VCP International Study Group and Schiava, M. Ikenaga, C. Villar-Quiles, R.N. Caballero-Ávila, M. Topf, A. Nishino, I. Kimonis, V. Udd, B. Schoser, B. Zanoteli, E. Sgobbi Souza, P.V. Tasca, G. Lloyd, T. Lopez-De Munain, A. Paradas, C. Pegoraro, E. Nadaj-Pakleza, A. De Bleecker, J. Badrising, U. Alonso-Jiménez, A. Kostera-Pruszczyk, A. Miralles, F. Shin, J.-H. Bevilacqua, J.A. Olivé, M. Vorgerd, M. Kley, R. Brady, S. Williams, T. Domínguez-González, C. Papadimas, G.K. Warman-Chardon, J. Claeys, K.G. de Visser, M. Muelas, N. LaForet, P. Malfatti, E. Alfano, L.N. Nair, S.S. Manousakis, G. Kushlaf, H.A. Harms, M.B. Nance, C. Ramos-Fransi, A. Rodolico, C. Hewamadduma, C. Cetin, H. García-García, J. Pál, E. Farrugia, M.E. Lamont, P.J. Quinn, C. Nedkova-Hristova, V. Peric, S. Luo, S. Oldfors, A. Taylor, K. Ralston, S. Stojkovic, T. Weihl, C. Diaz-Manera, J. Martinez-Piñeiro, A. Töpf, A. Kaminska, A. Mayhew, A. Rydelius, A. Behin, A. Toscano, A. Laín, A.H. Lannes, B. Velez, B. Kierdaszuk, B. De Paepe, B. Eymard, B. Cazcarra, C.M. Paradasa, C. Hedberg-Oldfors, C. Longman, C. Bettollo, C.M. Papadopoulos, C. Metay, C. Hilton-Jones, D. Zanotelli, E. Harrington, E.A. Eline, E. Gelpi, E. Rivas, E. Miralles, F. Sorarù, G. Bisogni, G. Lucente, G. Bassez, G. François, J. Chanson, J.-B. Lin, J. Skeoch, J. Palmio, J. Baets, J. Pérez, J.A. Díaz, J. Vilchez, J.J. Hudson, J. Hadzsiev, K. Bello, L. Campero, M. Sabatelli, M. Masingue, M. Monforte, M. James, M. Guglieri, M. Inoue, M. Povedano, M. Hofer, M. Olivé, M. Garcia-Angarita, N. Earle, N. Sarró, N.V. Lafôret, P. Rihard, P. de Jonghe, P. Riguzzi, P. Camaño, P. Rubio, R.D. Carlier, R. Muni-Lofra, R. Fernández-Torrón, R. Alvarez, R. Krause, S. Leonard-Louis, S. Souvannanorath, S. Klotz, S. Thiele, S. Xirou, S. Evangelista, T. Grider, T. Rakocevic-Stojanovic, V. Straub, V. Zhu, W. de Ridder, W. Kelly, W. Saito, Y. Park, Y.-E. Nishimori, Y. Sahenk, Z. VCP International Study Group

Abstract

Background Valosin-containing protein (VCP) disease, caused by mutations in the VCP gene, results in myopathy, Paget's disease of bone (PBD) and frontotemporal dementia (FTD). Natural history and genotype-phenotype correlation data are limited. This study characterises patients with mutations in VCP gene and investigates genotype-phenotype correlations. Methods Descriptive retrospective international study collecting clinical and genetic data of patients with mutations in the VCP gene. Results Two hundred and fifty-five patients (70.0% males) were included in the study. Mean age was 56.8±9.6 years and mean age of onset 45.6±9.3 years. Mean diagnostic delay was 7.7±6 years. Symmetric lower limb weakness was reported in 50% at onset progressing to generalised muscle weakness. Other common symptoms were ventilatory insufficiency 40.3%, PDB 28.2%, dysautonomia 21.4% and FTD 14.3%. Fifty-seven genetic variants were identified, 18 of these no previously reported. c.464G>A (p.Arg155His) was the most frequent variant, identified in the 28%. Full time wheelchair users accounted for 19.1% with a median time from disease onset to been wheelchair user of 8.5 years. Variant c.463C>T (p.Arg155Cys) showed an earlier onset (37.8±7.6 year) and a higher frequency of axial and upper limb weakness, scapular winging and cognitive impairment. Forced vital capacity (FVC) below 50% was as risk factor for being full-time wheelchair user, while FVC <70% and being a full-time wheelchair user were associated with death. Conclusion This study expands the knowledge on the phenotypic presentation, natural history, genotype-phenotype correlations and risk factors for disease progression of VCP disease and is useful to improve the care provided to patient with this complex disease. © Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ.

Published
2022

2. Cognitive behavioural therapy for adults with dissociative seizures (CODES): a pragmatic, multicentre, randomised controlled trial

Author

Goldstein, Laura H., Robinson, Emily J., Mellers, John D.C., Stone, Jon, Carson, Alan, Reuber, Markus, Medford, Nick, McCrone, Paul, Murray, Joanna, Richardson, Mark P., Pilecka, Izabela, Eastwood, Carole, Moore, Michele, Mosweu, Iris, Perdue, Iain, Landau, Sabine, Chalder, Trudie, Abe, A. M., Adab, N., Agrawal, N., Allroggen, H., Alvares, D., Andrews, T., Angus-Leppan, H., Aram, J., Armstrong, R., Atalaia, A., Bagary, M., Baldellou Lopez, M., Bennett, M., Black, T., Blackburn, D., Bodani, M., Broadhurst, M., Brockington, A., Bruno, E., Buckley, M., Burness, C., Callaghan, H., Chalmers, R., Chong, S., Chowdhury, M., Chowdury, F., Cikurel, K., Cocco, G., Cock, H., Cooper, S., Cope, S., Copping, A., Day, E., Delamont, R., Dennis, G., Derry, C., Devlin, R., Dickson, J. M., Diehl, B., Donnelly, C., Duncan, S., Edwards, M., Ellawella, S., Ellis, C., Elvish, J., Elwes, R., Eriemo, S., Eriksson, S., Evans, K., Faruqui, R., Feehan, S., Finnerty, G., Flores, L., Firth, N., Fung, R., Gardiner, P., Graham, C., Green-Thompson, Z., Grunewald, R., Hadden, R., Hamandi, K., Harding, R., Harikrishnan, S., Harrison, S., Healy, H., Hewamadduma, C., Higgins, S., Howell, S., Hunt, H., Hussain, A., Innocente, M., Jensch, G., Johnson, M., Jordan, H., Karlsson, J., Kelso, A., Kemp, S., Knibb, J., Kock, N., Koutroumanidis, M., Kovac, S., Kumar, G., Laker, A., Leschziner, G., Liu, R., Lozsadi, D., Ludwig, L., MacDonald, B., MacGregor, L., Maguire, M., Manford, M., Martino, D., McCorry, D., McGorlick, A., McKeown, K., McKevitt, F., Meadow, A., Memon, S., Miorelli, A., Mitchell, C., Mitchell, T. N., Moffitt, V., Moran, N., Morgan-Boon, A., Moriarty, J., Mula, M., Mullatti, N., Nashef, L., O'Hara, D., Oakley, L., O'Sullivan, S., Page, L., Patel, D., Petrochilos, P., Phoenix, D., Pickerell, W., Pieters, T., Poole, N., Price, G., Protheroe, D., Pullicino, P., Purnell, J., Quirk, J., Rajakulendran, S., Read, J., Ridha, B., Rockliffe-Fidler, C., Rowbottom, C., Rugg-Gunn, F., Sachar, A., Saha, R., Saldanha, G., Samarasekera, S., Sanchez Sanchez, V., Santhouse, A., Scholes, K., Shetty, A., Shotbolt, P., Simkiss, R., Singh, J., Sivagnanasundaram, J., Slaght, S., Smith, P., Sokhi, D., Stanton, B., Suvorova, L., Tahir, T., Taylor, R., Teare, L., Tedesco, L., Teo, J., Thorpe, J., Toplis, L., Tsakopoulou, M., Tylova, I., Vick, T., Vinnicombe, J., Walker, M., Walsh, C., Watson, G., Webb, T., Wehner, T., Welch, K., Weyrich, K., Whittaker, M., Wickremaratchi, M., Wicks, L., Yogarajah, M., Goldstein, Laura H., Robinson, Emily J., Mellers, John D.C., Stone, Jon, Carson, Alan, Reuber, Markus, Medford, Nick, McCrone, Paul, Murray, Joanna, Richardson, Mark P., Pilecka, Izabela, Eastwood, Carole, Moore, Michele, Mosweu, Iris, Perdue, Iain, Landau, Sabine, Chalder, Trudie, Abe, A. M., Adab, N., Agrawal, N., Allroggen, H., Alvares, D., Andrews, T., Angus-Leppan, H., Aram, J., Armstrong, R., Atalaia, A., Bagary, M., Baldellou Lopez, M., Bennett, M., Black, T., Blackburn, D., Bodani, M., Broadhurst, M., Brockington, A., Bruno, E., Buckley, M., Burness, C., Callaghan, H., Chalmers, R., Chong, S., Chowdhury, M., Chowdury, F., Cikurel, K., Cocco, G., Cock, H., Cooper, S., Cope, S., Copping, A., Day, E., Delamont, R., Dennis, G., Derry, C., Devlin, R., Dickson, J. M., Diehl, B., Donnelly, C., Duncan, S., Edwards, M., Ellawella, S., Ellis, C., Elvish, J., Elwes, R., Eriemo, S., Eriksson, S., Evans, K., Faruqui, R., Feehan, S., Finnerty, G., Flores, L., Firth, N., Fung, R., Gardiner, P., Graham, C., Green-Thompson, Z., Grunewald, R., Hadden, R., Hamandi, K., Harding, R., Harikrishnan, S., Harrison, S., Healy, H., Hewamadduma, C., Higgins, S., Howell, S., Hunt, H., Hussain, A., Innocente, M., Jensch, G., Johnson, M., Jordan, H., Karlsson, J., Kelso, A., Kemp, S., Knibb, J., Kock, N., Koutroumanidis, M., Kovac, S., Kumar, G., Laker, A., Leschziner, G., Liu, R., Lozsadi, D., Ludwig, L., MacDonald, B., MacGregor, L., Maguire, M., Manford, M., Martino, D., McCorry, D., McGorlick, A., McKeown, K., McKevitt, F., Meadow, A., Memon, S., Miorelli, A., Mitchell, C., Mitchell, T. N., Moffitt, V., Moran, N., Morgan-Boon, A., Moriarty, J., Mula, M., Mullatti, N., Nashef, L., O'Hara, D., Oakley, L., O'Sullivan, S., Page, L., Patel, D., Petrochilos, P., Phoenix, D., Pickerell, W., Pieters, T., Poole, N., Price, G., Protheroe, D., Pullicino, P., Purnell, J., Quirk, J., Rajakulendran, S., Read, J., Ridha, B., Rockliffe-Fidler, C., Rowbottom, C., Rugg-Gunn, F., Sachar, A., Saha, R., Saldanha, G., Samarasekera, S., Sanchez Sanchez, V., Santhouse, A., Scholes, K., Shetty, A., Shotbolt, P., Simkiss, R., Singh, J., Sivagnanasundaram, J., Slaght, S., Smith, P., Sokhi, D., Stanton, B., Suvorova, L., Tahir, T., Taylor, R., Teare, L., Tedesco, L., Teo, J., Thorpe, J., Toplis, L., Tsakopoulou, M., Tylova, I., Vick, T., Vinnicombe, J., Walker, M., Walsh, C., Watson, G., Webb, T., Wehner, T., Welch, K., Weyrich, K., Whittaker, M., Wickremaratchi, M., Wicks, L., and Yogarajah, M.

Abstract

Background: Dissociative seizures are paroxysmal events resembling epilepsy or syncope with characteristic features that allow them to be distinguished from other medical conditions. We aimed to compare the effectiveness of cognitive behavioural therapy (CBT) plus standardised medical care with standardised medical care alone for the reduction of dissociative seizure frequency. Methods: In this pragmatic, parallel-arm, multicentre randomised controlled trial, we initially recruited participants at 27 neurology or epilepsy services in England, Scotland, and Wales. Adults (≥18 years) who had dissociative seizures in the previous 8 weeks and no epileptic seizures in the previous 12 months were subsequently randomly assigned (1:1) from 17 liaison or neuropsychiatry services following psychiatric assessment, to receive standardised medical care or CBT plus standardised medical care, using a web-based system. Randomisation was stratified by neuropsychiatry or liaison psychiatry recruitment site. The trial manager, chief investigator, all treating clinicians, and patients were aware of treatment allocation, but outcome data collectors and trial statisticians were unaware of treatment allocation. Patients were followed up 6 months and 12 months after randomisation. The primary outcome was monthly dissociative seizure frequency (ie, frequency in the previous 4 weeks) assessed at 12 months. Secondary outcomes assessed at 12 months were: seizure severity (intensity) and bothersomeness; longest period of seizure freedom in the previous 6 months; complete seizure freedom in the previous 3 months; a greater than 50% reduction in seizure frequency relative to baseline; changes in dissociative seizures (rated by others); health-related quality of life; psychosocial functioning; psychiatric symptoms, psychological distress, and somatic symptom burden; and clinical impression of improvement and satisfaction. p values and statistical significance for outcomes were reported without cor

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