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1. Prognostic indicators and outcomes of hospitalised COVID-19 patients with neurological disease: An individual patient data meta-analysis

Author

Singh, B., Lant, S., Cividini, S., Cattrall, J.W.S., Goodwin, L.C., Benjamin, L., Michael, B.D., Khawaja, A., Matos, A.D.B., Alkeridy, W., Pilotto, A., Lahiri, D., Rawlinson, R., Mhlanga, S., Lopez, E.C., Sargent, B.F., Somasundaran, A., Tamborska, A., Webb, G., Younas, K., Sami, Y. al, Babu, H., Banks, T., Cavallieri, F., Cohen, M., Davies, E., Dhar, S., Modol, A.F., Farooq, H., Harte, J., Hey, S., Joseph, A., Karthikappallil, D., Kassahun, D., Lipunga, G., Mason, R., Minton, T., Mond, G., Poxon, J., Rabas, S., Soothill, G., Zedde, M., Yenkoyan, K., Brew, B., Contini, E., Cysique, L., Zhang, X., Maggi, P., Pesch, V. van, Lechien, J., Saussez, S., Heyse, A., Ferreira, M.L.B., Soares, C.N., Elicer, I., Eugenin-von Bernhardi, L., Reyes, W.N., Yin, R., Azab, M.A., Abd-Allah, F., Elkady, A., Escalard, S., Corvol, J.C., Delorme, C., Tattevin, P., Bigaut, K., Lorenz, N., Hornuss, D., Hosp, J., Rieg, S., Wagner, D., Knier, B., Lingor, P., Winkler, A.S., Sharifi-Razavi, A., Moein, S.T., SeyedAlinaghi, S., JamaliMoghadamSiahkali, S., Morassi, M., Padovani, A., Giunta, M., Libri, I., Beretta, S., Ravaglia, S., Foschi, M., Calabresi, P., Primiano, G., Servidei, S., Mercuri, N.B., Liguori, C., Pierantozzi, M., Sarmati, L., Boso, F., Garazzino, S., Mariotto, S., Patrick, K.N., Costache, O., Pincherle, A., Klok, F.A., Meza, R., Cabreira, V., Valdoleiros, S.R., Oliveira, V., Kaimovsky, I., Guekht, A., Koh, J., Diaz, E.F., Barrios-Lopez, J.M., Guijarro-Castro, C., Beltran-Corbellini, A., Martinez-Poles, J., Diezma-Martin, A.M., Morales-Casado, M.I., Garcia, S.G., Breville, G., Coen, M., Uginet, M., Bernard-Valnet, R., Pasquier, R. du, Kaya, Y., Abdelnour, L.H., Rice, C., Morrison, H., Defres, S., Huda, S., Enright, N., Hassell, J., D'Anna, L., Benger, M., Sztriha, L., Raith, E., Chinthapalli, K., Nortley, R., Paterson, R., Chandratheva, A., Werring, D.J., Dervisevic, S., Harkness, K., Pinto, A., Jillella, D., Beach, S., Gunasekaran, K., Silva, I.R.F. da, Nalleballe, K., Santoro, J., Scullen, T., Kahn, L., Kim, C.Y., Thakur, K.T., Jain, R., Umapathi, T., Nicholson, T.R., Sejvar, J.J., Hodel, E.M., Smith, C.T., Solomon, T., Brain Infect Global COVID-Neuro Ne, University of Liverpool, Fondation Ophtalmologique Adolphe de Rothschild [Paris], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Pontchaillou [Rennes], ARN régulateurs bactériens et médecine (BRM), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Les Hôpitaux Universitaires de Strasbourg (HUS), The study was funded by the UK Medical Research Council’s Global Effort on COVID-19 Programme (MR/V033441/1) (https://mrc.ukri.org/), UK National Institute for Health Research (NIHR)- funded Global Health Research Group on Acute Brain Infections (17/63/110) (https://www.nihr.ac.uk/), and the NIHR Health Protection Research Unit in Emerging and Zoonotic Infections (NIHR200907), at University of Liverpool in partnership with Public Health England (PHE), in collaboration with Liverpool School of Tropical Medicine and the University of Oxford (Grant Nos. IS-HPU-1112-10117 and NIHR200907). These grants were awarded to TS. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript., Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), and Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )

Subjects
General Science & Technology, [SDV]Life Sciences [q-bio], Autonomic dysfunction, PROVISIONAL CASE DEFINITIONS, MESH: Hospitalization, MESH: Prognosis, MESH: Stroke, MESH: Risk Factors, Risk Factors, MESH: COVID-19, Humans, Multidisciplinary, Science & Technology, Hospitalization, Prognosis, COVID-19, Stroke, MESH: Humans, Metaanalysis, Hospitals, Brain Infections Global COVID-Neuro Network Study Group, Multidisciplinary Sciences, Medical risk factors, Settore MED/26 - NEUROLOGIA, Cerebrospinal fluid, Encephalitis, Science & Technology - Other Topics, Dementia
Abstract

Background Neurological COVID-19 disease has been reported widely, but published studies often lack information on neurological outcomes and prognostic risk factors. We aimed to describe the spectrum of neurological disease in hospitalised COVID-19 patients; characterise clinical outcomes; and investigate factors associated with a poor outcome. Methods We conducted an individual patient data (IPD) meta-analysis of hospitalised patients with neurological COVID-19 disease, using standard case definitions. We invited authors of studies from the first pandemic wave, plus clinicians in the Global COVID-Neuro Network with unpublished data, to contribute. We analysed features associated with poor outcome (moderate to severe disability or death, 3 to 6 on the modified Rankin Scale) using multivariable models. Results We included 83 studies (31 unpublished) providing IPD for 1979 patients with COVID-19 and acute new-onset neurological disease. Encephalopathy (978 [49%] patients) and cerebrovascular events (506 [26%]) were the most common diagnoses. Respiratory and systemic symptoms preceded neurological features in 93% of patients; one third developed neurological disease after hospital admission. A poor outcome was more common in patients with cerebrovascular events (76% [95% CI 67–82]), than encephalopathy (54% [42–65]). Intensive care use was high (38% [35–41]) overall, and also greater in the cerebrovascular patients. In the cerebrovascular, but not encephalopathic patients, risk factors for poor outcome included breathlessness on admission and elevated D-dimer. Overall, 30-day mortality was 30% [27–32]. The hazard of death was comparatively lower for patients in the WHO European region. Interpretation Neurological COVID-19 disease poses a considerable burden in terms of disease outcomes and use of hospital resources from prolonged intensive care and inpatient admission; preliminary data suggest these may differ according to WHO regions and country income levels. The different risk factors for encephalopathy and stroke suggest different disease mechanisms which may be amenable to intervention, especially in those who develop neurological symptoms after hospital admission.

Published
2022

2. Rivaroxaban for stroke prevention after embolic stroke of undetermined source

Author

Hart, Robert G, Sharma, Mukul, Mundl, Hardi, Kasner, Scott E, Bangdiwala, Shrikant I, Berkowitz, Scott D, Swaminathan, Balakumar, Lavados, Pablo, Wang, Yongjun, Wang, Yilong, Davalos, Antonio, Shamalov, Nikolay, Mikulik, Robert, Cunha, Luis, Lindgren, Arne, Arauz, Antonio, Lang, Wilfried, Czlonkowska, Anna, Eckstein, Jens, Gagliardi, Rubens J, Amarenco, Pierre, Ameriso, Sebastian F, Tatlisumak, Turgut, Veltkamp, Roland, Hankey, Graeme J, Toni, Danilo, Bereczki, Daniel, Uchiyama, Shinichiro, Ntaios, George, Yoon, Byung-Woo, Brouns, Raf, Endres, Matthias, Muir, Keith W, Bornstein, Natan, Ozturk, Serefnur, O'Donnell, Martin J, De Vries Basson, Matthys M, Pare, Guillaume, Pater, Calin, Kirsch, Bodo, Sheridan, Patrick, Peters, Gary, Weitz, Jeffrey I, Peacock, W Frank, Shoamanesh, Ashkan, Benavente, Oscar R, Joyner, Campbell, Themeles, Ellison, Connolly, Anderson DC, Stuart J., Demets, Dl, Kaste, M, Norrving, B, Wyse, Dg, Alet, M, Allende, G, Beinlich, A, Berrios, W, Bruera, G, Castro, D, Chialvo, L, Claverie, S, Contardo, L, Couto, J, Deganutto, R, Diaz, R, Dossi, D, Esnaola, M, Falco, M, Fernandez Pirrone, P, Ferrari, J, Firstenfeld, A, Galli Giqueauk, E, Gilli, M, Gonzalez, L, Gonzalez Toledo, M, Grecco, M, Halac, B, Hawkes, M, Ioli, P, Jure, L, Klein, F, Lepera, S, Lujan, S, Mackinnon, F, Marroquin, M, Martin, J, Parisi, V, Perez Leguizamon, P, Persi, G, Povedano, P, Povedano, G, Pujol Lereis, V, Radrizzani, L, Reich, E, Repetto, M, Rodriguez Lucci, F, Romano, M, Saredo, G, Schneider, M, Simonsini, C, Sumay, G, Thomson, A, Toledo, W, Torres, C, Vila, A, Abdul Rasheed, N, Anderson, C, Bailey, P, Blacker, D, Carcel, C, Clissold, B, Delcourt, C, Field, D, Gangadharan, S, Ghia, D, Kleinig, T, Leyden, J, Ly, J, Ma, H, Mackey, E, Mishra, S, Moey, A, Musuka, T, Pepper, E, Phan, T, Sabet, A, Saw, J, Singh, B, Tryambake, D, Tu, H, Wijeratne, T, Wong, A, Augustin, S, Esterbauer, M, Garnauf, M, Gasiorek, K, Gasser, S, Gaugg, M, Greisenegger, S, Harrasser, M, Heine, M, Huber, B, Joachim, B, Kapeller, P, Krebs, S, Kreuzpointer, R, Kunzmann, J, Lechner, H, Lohninger, B, Luschin, G, Macher, S, Marko, M, Matosevic, B, Mayr, A, Mismas, A, Mitrovic, N, Mutzenbach, J, Oberndorfer, S, Obmann, S, Raffelsberger, T, Roesler, C, Salletmayr, T, Serles, W, Stadler, K, Tinchon, A, Tolino, M, Verocai, V, Vigl, M, Voglsperger, B, Weber, J, Werner, P, Windt, J, Winkler, A, Wurzinger, H, Zelenka, I, Cras, P, Crols, R, De Keyser, J, De Klippel, N, De Pauw, A, De Smedt, A, Dhollander, I, Hermans, S, Ligot, N, Maqueda, V, Maqueda Maqueda, V, Naeije, G, Seynaeve, L, Soors, P, Van Daele, W, Vanacker, P, Vanderschueren, G, Willems, C, Yperzeele, L, Avelar, W, Bacellar, A, Batista, C, Bazan, R, Braga, G, Cardoso, F, Dagnino, M, Fabio, S, Ferreira Junior, G, Freitas, G, Friedrich, M, Gomes Neto, A, Guarda, S, Katsurayama, M, Machado, M, Martins, S, Meira, F, Minelli, C, Morais, R, Moro, C, Neto, O, Polin, M, Silva, D, Weiss, G, Basile, V, Beaudry, M, Berlingieri, J, Blacquiere, D, Buck, B, Chan, R, Coutts, S, Das, S, Desai, J, Ehrensperger, E, Field, T, Gladstone, D, Hachinski, V, Hassan, A, Hegedus, J, Hill, M, Jin, A, Khaw, A, Mackey, A, Maclean, G, Mandzia, J, Mann, S, Mehdiratta, M, Murphy, C, Ng, K, Oczkowski, W, Penn, A, Perera, K, Perez, Y, Pesant, Y, Phillips, S, Poppe, A, Sahlas, J, Shuaib, A, Spence, D, Sposato, L, Stotts, G, Tamayo, A, Teal, P, Wilson, L, Winder, T, Yegappan, C, Yip, S, Andreu, D, Araya, P, Bustamante, G, Figueroa, C, Gasic, K, Herrero, D, Matamala, G, Munoz, S, Olavarria, V, Pasten, J, Polanco, J, Reyes, P, Roldan, A, Salamanca, P, Silva, P, Toloza, C, Verdugo, M, Cai, K, Che, C, Chen, J, Chen, Z, Chen, T, Chen, H, Chen, X, Chen, B, Chen, G, Chen, L, Chu, F, Cui, L, Dai, C, Ding, N, Ding, J, Du, P, Du, J, Fang, L, Feng, J, Gao, Y, Geng, J, Guan, J, Hao, L, Huang, D, Huang, H, Jin, X, Jing, P, Ke, K, Li, G, Li, M, Li, S, Li, J, Liang, Z, Lin, H, Liu, K, Liu, X, Lu, Z, Ma, C, Pei, H, Qiu, J, Qu, X, Shen, W, Sun, X, Tian, J, Tong, L, Tong, Z, Wang, J, Wang, L, Wang, X, Wang, W, Wang, N, Wang, D, Wang, H, Wen, G, Weng, G, Wu, W, Wu, S, Xiao, B, Xiaopeng, W, Xiong, L, Xiong, Y, Xu, Y, Xu, J, Xu, Z, Yang, L, Yang, Y, Yang, X, Yang, J, Yang, Q, Yang, B, Zhang, C, Zhang, B, Zhang, Y, Zhang, S, Zhang, M, Zhang, X, Zhang, J, Zhao, L, Zhou, L, Bar, M, Barteys, M, Bartolottiova, T, Carek, M, Ferencova, K, Fiksa, J, Gallo, J, Goldemund, D, Hanouskova, L, Herzig, R, Hon, P, Jankovych, J, Jura, R, Kadlcikova, J, Kemlink, D, Kopecky, S, Krajickova, D, Kral, M, Krejci, V, Pavlik, O, Peisker, T, Pernicka, M, Peska, S, Rapantova, P, Reif, M, Rekova, P, Sanak, D, Sebejova, M, Skoda, O, Slonkova, J, Stetkarova, I, Tenora, D, Tumova, R, Vaclavik, D, Vasko, P, Veverka, T, Vitkova, E, Volna, J, Andersen, G, Christensen, H, Christensen, T, Damgaard, D, Iversen, H, Krarup Hansen, C, Kruuse, C, Martinussen, M, Modrau, B, Murtuzova, A, Ovesen, C, Papina, M, Svaneborg, N, Von Weitzel-Mudersbach, P, Curtze, S, Fanta, S, Huhtakangas, J, Keskinarkaus, I, Kivioja, R, Koivu, M, Korpela, J, Larjo, T, Linna, M, Marinkovic, I, Martinez-Majander, N, Nieminen, T, Nikkanen, M, Numminen, H, Ortiz, R, Österlund-Tauriala, E, Roine, R, Roine, S, Ruuskanen, J, Saarinen, J, Shulga, A, Sibolt, G, Tapanainen, A, Tapiola, T, Tiainen, M, Tomppo, L, Tumpula, O, Tuomainen, P, Tynkkynen, J, Vainikka, S, Valpas, J, Virta, J, Ylikallio, E, Ylikotila, P, Accassat, S, Aniculaesei, A, Baronnet, F, Bejot, Y, Bindila, D, Birchenall, J, Blanc-Labarre, C, Bodiguel, E, Bouly, S, Cabrejo, L, Calvet, D, Corlobe, A, Crozier, S, Delpont, B, Deltour, S, Diaconu, M, Domigo, V, Epinat, M, Ferreira, A, Fisselier, M, Garnier, P, Gimenez, L, Gueguen, A, Guidoux, C, Guillon, B, Guiraudg, V, Hervieu-Begue, M, Hobeanu, M, Khoumri, C, Lamy, C, Lauer, V, Le Bouc, R, Lecouturier, K, Leder, S, Leger, A, Macian-Montoro, F, Meseguer, E, Morar-Precup, D, Morvan, T, Morvan, E, Obadia, M, Osseby, G, Philippi, S, Pico, F, Quenardelle, V, Reiner, P, Rigual, R, Rosso, C, Sabben, C, Samson, Y, Sevin, M, Sibon, I, Thouvenot, E, Timsit, S, Touze, E, Turc, G, Vahedi, K, Varvat, J, Wacongne, A, Wolff, V, Yalo, B, Zinchenko, I, Bagelmann, H, Bardutzky, J, Barlinn, J, Bathe-Peters, R, Berrouschot, J, Dietzel, J, Ehrlich, S, Fatar, M, Filipov, A, Fluri, F, Gabriel, M, Geran, R, Gliem, M, Graf, S, Griebe, M, Grosse, G, Haeusler, K, Harmel, P, Held, V, Hellwig, S, Henkner, J, Hieber, M, Hoyer, C, Jander, S, Keilitz, J, Kellner, J, Knecht, S, Koch, M, Koehler, L, Kucken, D, Kusnick, G, Lambeck, J, Lee, J, Leisse, I, Lubke-Detring, S, Machetanz, J, Mensch, A, Meyer, N, Molis, A, Mueller, T, Muhl, C, Nave, A, Radtke, A, Roth, Y, Roukens, R, Schlachetzki, F, Schneider, I, Schuppner, R, Schurig, J, Schwarzbach, C, Seidel, G, Sonntag, N, Steinert, S, Stoll, A, Stumpp, A, Taggeselle, J, Trommer, A, Tuetuencue, S, Wartenberg, K, Weissenborn, K, Wittayer, M, Wolf, M, Wolter, C, Worthmann, H, Wunderlich, S, Zitzmann, A, Anagnostou, E, Brokalaki, C, Hatzitolios, A, Kakaletsis, N, Kanellos, I, Kei, A, Korompoki, E, Koutroubi, A, Liamis, G, Makaritsis, K, Manios, E, Michas, F, Milionis, H, Papadopoulos, G, Papadopoulou, E, Papagiannis, A, Polychronopoulou, E, Sagris, D, Satsoglou, S, Savopoulos, C, Solganov, I, Spengos, K, Stamatelopoulos, K, Terentiou, A, Tountopoulou, A, Vassilopoulou, S, Amjad, A, Balazs, A, Bankuti, Z, Bicsak, T, Borcsik, L, Csanyi, A, Csiba, L, Csontos, K, Csuha, R, Czurko, M, Danku, V, Dioszeghy, P, Faust, K, Fazekas, F, Gerocs, Z, Gottschal, M, Gyuker, N, Hajas, A, Horvath, L, Horvath, M, Iljicsov, A, Jakab, K, Javor, L, Kakuk, I, Karasz, O, Kasa, K, Kasza, J, Kerekgyarto, M, Klivenyi, P, Kovacs, K, Kovacs, T, Kovacs, H, Lajos, B, Lovasz, R, Magyar, T, Matoltsy, A, May, Z, Molnar, S, Monosi, C, Motko, T, Nemeth, R, Nemeth, L, Nikl, J, Olah, L, Orosz, V, Panczel, G, Pentek, S, Prendl, B, Rozsa, C, Rum, G, Sas, K, Sas, A, Semjen, J, Simony, Z, Sipos, I, Szabo, K, Szasz, G, Szegedi, N, Szekely, A, Szilagyi, G, Szoboszlai, K, Szpisjak, L, Toth, G, Uhrinyakova, L, Valikovics, A, Varga, Z, Vass, L, Vastagh, I, Vecsei, L, Zboznovits, D, Coveney, S, Horgan, G, Kelly, P, Murphy, S, Smyth, A, Waters, R, Abu Ahmad, F, Bloch, S, Dorodnicov, E, Hallevi, H, Haratz, S, Horev, A, Kolianov, V, Leker, R, Mahagney, A, Marzelik, O, Rephaeli, G, Tanne, D, Weller, B, Acciarresi, M, Adami, A, Agostoni, E, Alemseged, F, Altavilla, R, Angelocola, S, Anticoli, S, Berardi, V, Bravi, M, Candeloro, E, Cappellari, M, Carletti, M, Caruso, P, Castellini, P, Cavallini, A, Cenciarelli, S, Cerrone, P, Condurso, R, Consoli, D, Danese, A, Della Marca, G, Denaro, M, Di Mascio, M, Diomedi, M, Distefano, M, Frisullo, G, Furlanis, G, Galati, F, Gallina, A, Gallinella, E, Giannandrea, D, Giatsidis, F, Greco, L, Impellizzeri, M, Landolfi, A, Lanfranconi, S, Latte, L, Lembo, G, Longoni, M, Marando, C, Marini, C, Marsili, E, Mastrocola, S, Mazzoli, T, Melis, M, Micheletti, N, Moller, J, Monzani, V, Naccarato, M, Paciaroni, M, Padiglioni, C, Persico, A, Pezzella, F, Pieroni, A, Piras, V, Postorino, P, Pozzerese, C, Profice, P, Ricci, S, Rinaldi, C, Rizzato, B, Rocco, A, Roveri, L, Santalucia, P, Semerano, A, Sicilia, I, Silvestrini, M, Sucapane, P, Tomelleri, G, Tropepi, D, Venti, M, Amino, T, Chin, M, Deguchi, I, Fujigasaki, H, Fukuyama, K, Haraguchi, K, Hasegawa, Y, Hattori, M, Hayashi, T, Hirose, M, Honma, Y, Igarashi, S, Irie, S, Itabashi, R, Ito, Y, Kamata, T, Kaneko, C, Kawanishi, M, Kimura, R, Kitagawa, K, Kobayashi, Y, Kondo, T, Kuwashiro, T, Matsumoto, S, Miyake, H, Nagakane, Y, Nishino, S, Nishiyama, Y, Nogawa, S, Ochiai, J, Ohira, M, Okamoto, Y, Okubo, S, Okuda, S, Ooyama, K, Sakai, N, Suenaga, T, Suzuki, H, Takamatsu, K, Takao, M, Taki, W, Takizawa, S, Tokunaga, K, Toyoda, K, Urui, S, Yamada, T, Yamasaki, M, Yoshida, Y, Yuasa, H, Bae, H, Cha, J, Chang, D, Chung, C, Heo, J, Hong, K, Kim, J, Lee, B, Nah, H, Oh, K, Park, M, Park, J, Rha, J, Sohn, S, Amaya Sanchez, L, Arauz Gongora, A, Cantu Brito, C, Chiquete Anaya, E, Felipe Amaya, P, Fernandez Vera, J, Garcia Lopez, R, Gien Lopez, J, Gongora-Rivera, J, Hernandez, J, Leal Cantu, R, Lopez Garza, N, Medina Pech, C, Mendez, B, Pena Sedna, L, Reyes Morales, S, Ruiz Franco, A, Serrano, F, Tovar, M, Uribe, R, Bak, Z, Baranowska, A, Bilik, M, Blazejewska-Hyzorek, B, Brola, W, Brzoska-Mizgalska, J, Buksinska-Lisik, M, Chorazy, M, Czerska, M, Czuryszkiewicz, M, Dalek, G, Dylewicz, L, Fiszer, U, Fraczek, A, Friedman, A, Fryze, W, Gasecki, D, Gębura, K, Geremek, M, Glabinski, A, Gluszkiewicz, M, Goździk, I, Grzesik, M, Jasek, L, Kaczorowska, B, Kalinowska, K, Kaminska, K, Kapica-Topczewska, K, Karlinski, M, Kobayashi, A, Kosarz-Lanczek, K, Kowalczyk, K, Kowalska, M, Kraska, J, Krzyzanowska, M, Kulakowska, A, Kurkowska-Jastrzebska, I, Lasek-Bal, A, Litwin, T, Morton, M, Myśliwy, W, Nosek, K, Nowak, B, Nowakowska-Śledź, E, Odyniec, A, Oleszek, J, Ozdoba-Rot, J, Palasik, W, Pawelczyk, M, Rozanski, D, Rozniecki, J, Sawicka, M, Sieczkowska, E, Skowron, P, Skowronska, M, Sliwinska, B, Sobolewski, P, Sobota, A, Stoiński, J, Szczuchniak, W, Szczyrba, S, Szewczyk, Z, Szlufik, S, Tarasiuk, J, Tutaj, A, Uchwat, U, Wach-Klink, A, Winska-Tereszkiewicz, A, Wisniewska, A, Włodek, A, Wojnarowska-Arendt, A, Zalewska, J, Zielinska-Turek, J, Ziomek, M, Zwiernik, J, Abreu, P, E Silva A, Amaral, Azevedo, E, Barroso, C, Calejo, M, Campillo, J, Campos Costa, E, Coelho, J, Correia, M, Correia, C, Gregorio, T, Lopes, D, Machado, C, Mendonca, T, Pereira, L, Pidal, A, Pineiro, S, Pinto, A, Ribeiro, J, Rodrigues, M, Salgado, P, Salgado, A, Santo, G, Sargento, J, Varela, R, Abroskina, M, Badalyan, K, Balueva, T, Barulin, A, Bazhenova, O, Belkin, A, Bogdanov, E, Daineko, A, Druzenko, I, Fedin, A, Fidler, M, Gogoleva, E, Golikov, K, Gonysheva, Y, Greshnova, I, Guryanova, N, Gusev, V, Kashaeva, E, Kaygorodtseva, S, Khairutdinova, D, Kholopov, M, Kirpicheva, S, Koltsov, I, Konkov, I, Kurenkova, N, Kurtenkova, N, Kurushina, O, Kustova, M, Lagutenko, M, Lenskaya, L, Lupinogina, L, Lvova, A, Melnikova, E, Meshkova, K, Morozova, E, Mozhejko, E, Nikoforova, M, Obrezan, A, Ondar, V, Pizova, N, Polyakov, A, Popov, D, Prazdnichkova, E, Prokopenko, S, Pudov, E, Salnikov, M, Samoshkina, O, Semushina, D, Shchukin, I, Shepeleva, E, Shmonin, A, Smolkin, A, Soldatov, M, Soloveva, L, Solovyeva, E, Stakhovskaya, L, Tcvetkova, S, Varvyanskaya, N, Voznyuk, I, Zhirnova, O, Ahmed, F, Basson, M, Engelbrecht, J, Hobson, B, Jansen, J, Nel, J, Nell, H, Njovane, X, Pretorius, M, Roos, J, Salig, S, Siebert, M, Amaro, S, Arenillas Lara, J, Arias Rivas, S, Baez Martinez, E, Bas, M, Bashir, S, Bragado, I, Cajaraville, S, Camps, P, Cardona Portela, P, Casado-Naranjo, I, Castellanos, M, Cayuela Caudevilla, N, Chamorro, A, Constantino Silva, A, Cortijo Garcia, E, De La Torre, J, De Torres, R, Diaz Otero, F, Diez-Tejedor, E, Escribano, B, Escudero, I, Fernandez, M, Font, M, Fortea, G, Freijo, M, Fuentes Gimeno, B, Gamero, M, Garcia, J, Garcia Pastor, A, Garcia Sanchez, S, Geniz Clavijo, M, Gil Nunez, A, Giralt, E, Gomez-Choco, M, Gomis, M, Gutiérrez, R, Iglesias Mohedano, A, Lago, A, Lara Lezama, L, Lara Rodriguez, B, Llull, L, Lopez Fernandez, M, Lorenzo, A, Maestre-Moreno, J, Marta Moreno, J, Marti-Fabregas, J, Martínez Sánchez, P, Mauri Cabdevila, G, Mengual Chirifie, J, Molina, C, Molina, J, Moniche, F, Morales, L, Morales, A, Nombela, F, Núñez, F, Pagola, J, Perez, S, Portilla, J, Prats, L, Purroy, F, Quesada Garcia, H, Ramirez Moreno, J, Redondo Robles, L, Renu, A, Riveira Rodriguez, C, Roa, A, Rodriguez Campello, A, Rodriguez Pardo De Donlebun, J, Rodriguez Yanez, M, Rudilosso, S, Ruiz Ares, G, Sànchez Cerón, M, Santamaria Cadavid, M, Sanz Cuesta, B, Serena, J, Silva, Y, Soriano Soriano, C, Tejada Garcia, J, Tejada Meza, H, Tembl, J, Terceno, M, Trillo, S, Urra, X, Usero Ruiz, M, Vazquez, P, Vilar, C, Villanueva Osorio, J, Ximenez-Carrillo, A, Zapata, E, Esbjornsson, M, Karlsson, J, Kremer, C, Kuris, A, Staaf, G, Stiehm, M, Timberg, I, Tossavainen, C, Wester, P, Arnold, M, Baumgartner, P, Beer, J, Bicker, H, Boos, L, Cereda, C, Chaloulos-Iakovidis, P, Christian, L, Engelter, S, Fisch, L, Fischer, U, Frey, S, Frick, M, Hauk, M, Hoffmann, M, Kahles, T, Manno, C, Medlin, F, Mircea, D, Nedeltchev, K, Panos, L, Polymeris, A, Schillinger, N, Stocker, R, Sztajzel, R, Alaydin, H, Batur Caglayan, H, Colakoglu, S, Demirci, N, Duman, T, Eren, F, Gokce, M, Inanc, Y, Nazliel, B, Ongun, G, Ozcekic Demirhan, S, Ozyurt, E, Selcuk, D, Sorgun, M, Tezcan, S, Togay Isikay, C, Tokgoz, O, Ulku Acar, R, Uluduz Ugurlu, D, Abdul-Saheb, M, Ahmad, N, Ali, A, Alwis, L, Balogun, I, Bathula, R, Behnam, Y, Bhandari, M, Bhargavah, M, Black, T, Blank, C, Bruce, D, Burn, M, Canepa, C, Chakrabarti, A, Chandrasena, D, Chembala, J, Cheripelli, B, Clarke, R, Cohen, D, Collas, D, Constantin, C, Dani, K, Del Giudice, A, Dennis, M, Devine, J, Dima, S, Doubal, F, Duodu, Y, Dutta, D, El Ta Wil, S, Elyas, S, Evans, N, Eveson, D, Fotherby, K, France, E, Furnace, J, Grabowski, S, Gunathilagan, G, Gutierrez, R, Guyler, P, Hargroves, D, Harkness, K, Harvey, M, Hayhoe, H, Hicken, L, Hussain, M, Kelly, S, Lam, M, Lindert, R, Louw, S, Luder, R, Macleod, M, Majid, A, Mangion, D, Markova, S, Markus, H, Marsh, R, Mcarthur, K, Menon, N, Metcalf, K, Minhas, J, Minns, M, Mistri, A, Moreton, F, Mpelembue, M, Muddegowda, G, Mudhar, O, Musarrat, K, Myint, M, Natarajan, I, Naylor, D, Ngeh, J, Papavasileiou, V, Perry, R, Piechowski-Jozwiak, B, Pradhan, M, Rani, A, Rashed, K, Robinson, T, Roffe, C, Saksena, R, Sattar, N, Sekaran, L, Selvarajah, J, Shah, S, Sinha, D, Sivakumar, R, Sztriha, L, Walters, D, Webb, T, Werring, D, Whiteley, W, Whiting, R, Abdelhamid, N, Abdul Rahman, D, Amin, H, Androulakis, M, Babikian, V, Baker, M, Barker Trejo, S, Benjamin, A, Birnbaum, L, Burke, J, Chen, S, Clark, W, Coull, B, De Havenon, A, Dearborn, J, Degeorgia, M, Essa, B, Fares, M, Favate, A, Furlan, A, Gebreyohanns, M, Goddeau, R, Green, D, Greer, D, Haralur Sreekantaiah, Y, Hasan, R, Hedna, V, Henninger, N, Holmstedt, C, Ishida, K, Jagolino, A, Johnson, M, Jun-Oconnell, A, Kaur, S, Khanna, A, Kirshner, H, Kittner, S, Kleindorfer, D, Leira, E, Loomis, C, Lord, A, Lowenkopf, T, Lutsep, H, Magadan, A, Majjhoo, A, Maud, A, Mayasi, Y, Mccullough, L, Mckinney, J, Mehta, S, Mehta, D, Mehta, B, Messe, S, Miller, B, Milling, T, Moonis, M, Navaratnam, D, Okpala, M, Patel, N, Pettigrew, L, Phinney, T, Ramos-Estebanez, C, Rasmussen, J, Rodriguez, G, Rybinnik, I, Santiago, P, Sarraj, A, Savitz, S, Sawyer, R, Scandura, T, Schindler, J, Sen, S, Shang, T, Sharrief, A, Sila, C, Simpkins, A, Sundararajan, S, Talahma, M, Tayal, A, Thaler, D, Tirschwell, D, Torres, J, Vora, N, Warnack, W, Waters, M, Wilson, C, Xiong, W, Zweifler, R, Zanferrari, C., St Marys Development Trust, Servicio de Neurologia (SANTIAGO - Neurologie), Universidad del Desarrollo, Department of Neurology (Dep Neuro - BEIJING), Tiantan Hospital, Neurology department, Universidade de Coimbra [Coimbra], Department of Internal Medicine, University Hospital Basel [Basel], Laboratoire de Recherche Vasculaire Translationnelle (LVTS (UMR_S_1148 / U1148)), Université Paris 13 (UP13)-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Department of Neurological Sciences, Università degli Studi di Roma 'La Sapienza' = Sapienza University [Rome], Department of Neurology, Seoul National University Hospital, Institute of Neurosciences and Psychology [Glasgow], University of Glasgow, Neurology Department, Ichilov Medical Center, CIC Brest, Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hôpital de la Cavale Blanche, Yperzeele, Laetitia, NAVIGATE ESUS Investigators, and Selçuk Üniversitesi

Subjects
Stroke/etiology, Male, [SDV]Life Sciences [q-bio], Kaplan-Meier Estimate, 030204 cardiovascular system & hematology, Brain Ischemia, Brain ischemia, 0302 clinical medicine, DESIGN, Rivaroxaban, Hemorrhage/chemically induced, Secondary Prevention, Medicine, Factor Xa Inhibitors/adverse effects, Stroke, Rivaroxaban/adverse effects, ComputingMilieux_MISCELLANEOUS, 11 Medical and Health Sciences, Aspirin, Atrial fibrillation, General Medicine, FORAMEN OVALE CLOSURE, Middle Aged, TRIALS, Intracranial Embolism, SAFETY, Aged, Factor Xa Inhibitors, Female, Hemorrhage, Humans, Platelet Aggregation Inhibitors, Medicine (all), Cardiology, Foramen ovale closure, Platelet aggregation inhibitor, Settore MED/26 - Neurologia, Life Sciences & Biomedicine, medicine.drug, medicine.medical_specialty, Platelet Aggregation Inhibitors/adverse effects, ANTITHROMBOTIC THERAPY, Aspirin/adverse effects, WARFARIN, 03 medical and health sciences, Secondary Prevention/methods, Medicine, General & Internal, Internal medicine, Intracranial Embolism/drug therapy, General & Internal Medicine, NAVIGATE ESUS Investigators, METAANALYSIS, Science & Technology, CRYPTOGENIC STROKE, business.industry, Warfarin, medicine.disease, EFFICACY, ATRIAL-FIBRILLATION, Human medicine, business, Brain Ischemia/prevention & control, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract

WOS: 000434263000007, PubMed: 29766772, BACKGROUND Embolic strokes of undetermined source represent 20% of ischemic strokes and are associated with a high rate of recurrence. Anticoagulant treatment with rivaroxaban, an oral factor Xa inhibitor, may result in a lower risk of recurrent stroke than aspirin. METHODS We compared the efficacy and safety of rivaroxaban (at a daily dose of 15 mg) with aspirin (at a daily dose of 100 mg) for the prevention of recurrent stroke in patients with recent ischemic stroke that was presumed to be from cerebral embolism but without arterial stenosis, lacune, or an identified cardioembolic source. The primary efficacy outcome was the first recurrence of ischemic or hemorrhagic stroke or systemic embolism in a time-to-event analysis; the primary safety outcome was the rate of major bleeding. RESULTS A total of 7213 participants were enrolled at 459 sites; 3609 patients were randomly assigned to receive rivaroxaban and 3604 to receive aspirin. Patients had been followed for a median of 11 months when the trial was terminated early because of a lack of benefit with regard to stroke risk and because of bleeding associated with rivaroxaban. The primary efficacy outcome occurred in 172 patients in the rivaroxaban group (annualized rate, 5.1%) and in 160 in the aspirin group (annualized rate, 4.8%) (hazard ratio, 1.07; 95% confidence interval [CI], 0.87 to 1.33; P=0.52). Recurrent ischemic stroke occurred in 158 patients in the rivaroxaban group (annualized rate, 4.7%) and in 156 in the aspirin group (annualized rate, 4.7%). Major bleeding occurred in 62 patients in the rivaroxaban group (annualized rate, 1.8%) and in 23 in the aspirin group (annualized rate, 0.7%) (hazard ratio, 2.72; 95% CI, 1.68 to 4.39; P, BayerBayer AG; Janssen Research and Development, Supported by Bayer and Janssen Research and Development.

Published
2018

3. Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders

Author

Lorena, Travaglini, Francesco, Brancati, Jennifer, Silhavy, Miriam, Iannicelli, Elizabeth, Nickerson, Nadia, Elkhartoufi, Eric, Scott, Emily, Spencer, Stacey, Gabriel, Sophie, Thomas, Bruria, Ben Zeev, Enrico, Bertini, Eugen, Boltshauser, Malika, Chaouch, Maria, Roberta Cilio, Mirjam, M. de Jong, Hulya, Kayserili, Gonul, Ogur, Andrea, Poretti, Sabrina, Signorini, Graziella, Uziel, Maha, S. Zaki, Ali Pacha, L, Zankl, A, Leventer, R, Grattan Smith, P, Janecke, A, Koch, J, Freilinger, M, D'Hooghe, M, Sznajer, Y, Vilain, C, Van Coster, R, Demerleir, L, Dias, K, Moco, C, Moreira, A, Ae Kim, C, Maegawa, G, Dakovic, I, Loncarevic, D, Mejaski Bosnjak, V, Petkovic, D, Abdel Salam GM, Abdel Aleem, A, Marti, I, Pinard, Jm, Quijano Roy, S, Sigaudy, S, de Lonlay, P, Romano, S, Verloes, A, Touraine, R, Koenig, M, Dollfus, H, Flori, E, Fradin, M, Lagier Tourenne, C, Messer, J, Collignon, P, Penzien, Jm, Bussmann, C, Merkenschlager, A, Philippi, H, Kurlemann, G, Grundmann, K, Dacou Voutetakis, C, Kitsiou Tzeli, S, Pons, R, Jerney, J, Halldorsson, S, Johannsdottir, J, Ludvigsson, P, Phadke, Sr, Girisha, Km, Doshi, H, Udani, V, Kaul, M, Stuart, B, Magee, A, Spiegel, R, Shalev, S, Mandel, H, Lev, D, Michelson, M, Idit, M, Ben Zeev, B, Gershoni Baruch, R, Ficcadenti, A, Fischetto, R, Gentile, M, Della Monica, M, Pezzani, M, Graziano, C, Seri, M, Benedicenti, F, Stanzial, F, Borgatti, R, Romaniello, R, Accorsi, P, Battaglia, S, Fazzi, E, Giordano, L, Pinelli, L, Boccone, L, Barone, R, Sorge, G, Briatore, E, Bigoni, S, Ferlini, A, Donati, Ma, Biancheri, R, Caridi, G, Divizia, Mt, Faravelli, F, Ghiggeri, G, Mirabelli, M, Pessagno, A, Rossi, A, Uliana, V, Amorini, M, Briguglio, M, Briuglia, S, Salpietro, Cd, Tortorella, G, Adami, A, Bonati, Mt, Castorina, P, D'Arrigo, S, Lalatta, F, Marra, G, Moroni, I, Pantaleoni, C, Riva, D, Scelsa, B, Spaccini, L, Del Giudice, E, Ludwig, K, Permunian, A, Suppiej, A, Macaluso, C, Pichiecchio, A, Battini, R, Di Giacomo, M, Priolo, M, Timpani, P, Pagani, G, Di Sabato ML, Emma, F, Leuzzi, V, Mancini, F, Majore, S, Micalizzi, A, Parisi, P, Romani, M, Stringini, G, Zanni, G, Ulgheri, L, Pollazzon, M, Renieri, Alessandra, Belligni, E, Grosso, E, Pieri, I, Silengo, M, Devescovi, R, Greco, D, Romano, C, Cazzagon, M, Simonati, A, Al Tawari AA, Bastaki, L, Mégarbané, A, Sabolic Avramovska, V, Said, E, Stromme, P, Koul, R, Rajab, A, Azam, M, Barbot, C, Salih, Ma, Tabarki, B, Jocic Jakubi, B, Martorell Sampol, L, Rodriguez, B, Pascual Castroviejo, I, Gener, B, Puschmann, A, Starck, L, Capone, A, Lemke, J, Fluss, J, Niedrist, D, Hennekam, Rc, Wolf, N, Gouider Khouja, N, Kraoua, I, Ceylaner, S, Teber, S, Akgul, M, Anlar, B, Comu, S, Kayserili, H, Yüksel, A, Akcakus, M, Caglayan, Ao, Aldemir, O, Al Gazali, L, Sztriha, L, Nicholl, D, Woods, Cg, Bennett, C, Hurst, J, Sheridan, E, Barnicoat, A, Hemingway, C, Lees, M, Wakeling, E, Blair, E, Bernes, S, Sanchez, H, Clark, Ae, Demarco, E, Donahue, C, Sherr, E, Hahn, J, Sanger, Td, Gallager, Te, Daugherty, C, Krishnamoorthy, Ks, Sarco, D, Walsh, Ca, Mckanna, T, Milisa, J, Chung, Wk, De Vivo DC, Raynes, H, Schubert, R, Seward, A, Brooks, Dg, Goldstein, A, Caldwell, J, Finsecke, E, Maria, Bl, Holden, K, Cruse, Rp, Karaca, E, Swoboda, Kj, Viskochil, D, Dobyns, Wb, Colin, Johnson, Tania, Attié Bitach, Joseph, G. Gleeson, Enza, Maria Valente, ANS - Amsterdam Neuroscience, APH - Amsterdam Public Health, Human Genetics, Paediatrics, OMÜ, University of Zurich, Valente, Enza Maria, Fluss, Joel Victor, Travaglini, L, Brancati, F, Silhavy, J, Iannicelli, M, Nickerson, E, Elkhartoufi, N, Scott, E, Spencer, E, Gabriel, S, Thomas, S, Ben Zeev, B, Bertini, E, Boltshauser, E, Chaouch, M, Cilio, Mr, de Jong, Mm, Kayserili, H, Ogur, G, Poretti, A, Signorini, S, Uziel, G, Zaki, M, Johnson, C, Atti? Bitach, T, Gleeson, Jg, Valente, Em, International JSRD Study, Group, and DEL GIUDICE, Ennio

Subjects
Male, Ciliata -- Anatomy, Proband, 10039 Institute of Medical Genetics, Meckel syndrome, RPGRIP1L, Syndromes, INPP5E, MODIFIER, Phosphoric Monoester Hydrolases/genetics, Ciliopathies, Polycystic Kidney Diseases/diagnosis/genetics, CILIUM, 0302 clinical medicine, Gene Frequency, Cerebellum, Prenatal Diagnosis, RETINAL DEGENERATION, Prevalence, MECKEL, ciliopathies, Joubert syndrome and related disorders, Eye Abnormalities, Child, Genetics (clinical), Encephalocele, Joubert syndrome, Genetics, Polycystic Kidney Diseases, 0303 health sciences, ddc:618, Cerebellar Diseases/diagnosis/genetics, Kidney Diseases, Cystic, Pedigree, 3. Good health, Phenotype, Child, Preschool, Medical genetics, Female, Retinitis Pigmentosa, FORM, Ciliary Motility Disorders, Heterozygote, medicine.medical_specialty, 2716 Genetics (clinical), Adolescent, Molecular Sequence Data, Encephalocele/diagnosis/genetics, AHI1, 610 Medicine & health, Biology, Retina, Article, Ciliopathies, INPP5E, Joubert syndrome and related disorders, Meckel syndrome, NO, Ciliary Motility Disorders/diagnosis/genetics, 03 medical and health sciences, 1311 Genetics, Cerebellar Diseases, REVEALS, medicine, Humans, Abnormalities, Multiple, Amino Acid Sequence, Kidney Diseases, Cystic/diagnosis/genetics, abnormalities, multiple, adolescent, amino acid sequence, cerebellar diseases, cerebellum, child, preschool, ciliary motility disorders, encephalocele, eye abnormalities, female, heterozygote, humans, infant, kidney diseases, cystic, male, molecular sequence data, pedigree, phosphoric monoester hydrolases, polycystic kidney diseases, prenatal diagnosis, prevalence, retina, gene frequency, mutation, phenotype, 030304 developmental biology, Eye Abnormalities/diagnosis/genetics, COACH SYNDROME, Retina/abnormalities, Genetic heterogeneity, Respiration disorders -- Therapy, Infant, medicine.disease, Phosphoric Monoester Hydrolases, INPP5E mutation, 10036 Medical Clinic, Mutation, 030217 neurology & neurosurgery
Abstract

Joubert syndrome and related disorders (JSRD) are clinically and genetically heterogeneous ciliopathies sharing a peculiar midbrain–hindbrain malformation known as the ‘molar tooth sign’. To date, 19 causative genes have been identified, all coding for proteins of the primary cilium. There is clinical and genetic overlap with other ciliopathies, in particular with Meckel syndrome (MKS), that is allelic to JSRD at nine distinct loci. We previously identified the INPP5E gene as causative of JSRD in seven families linked to the JBTS1 locus, yet the phenotypic spectrum and prevalence of INPP5E mutations in JSRD and MKS remain largely unknown. To address this issue, we performed INPP5E mutation analysis in 483 probands, including 408 JSRD patients representative of all clinical subgroups and 75 MKS fetuses. We identified 12 different mutations in 17 probands from 11 JSRD families, with an overall 2.7% mutation frequency among JSRD. The most common clinical presentation among mutated families (7/11, 64%) was Joubert syndrome with ocular involvement (either progressive retinopathy and/or colobomas), while the remaining cases had pure JS. Kidney, liver and skeletal involvement were not observed. None of the MKS foetuses carried INPP5E mutations, indicating that the two ciliopathies are not allelic at this locus., peer-reviewed

Published
2013

4. Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome

Author

Cantagrel, V, Silhavy, Jl, Bielas, S, Swistun, D, Marsh, Se, Bertrand, J, Audollent, S, Attié Bitach, T, Holden, Kr, Dobyns, Wb, Traver, D, Al Gazali, L, Ali, Br, Lindner, Th, Caspary, T, Otto, Ea, Hildebrandt, F, Glass, Ia, Logan, Cv, Johnson, Ca, Bennett, C, Brancati, F, Grattan Smith, P, Leventer, J, Van Coster, R, Dias, K, Moco, C, Moreira, Ae Kim, C, Akiss, A, Maegawa, G, Abdel Salam GMH, Abdel Aleem, A, Zaki, Ms, Marti, I, Quijano Roy, S, de Lonlay, P, Verloes A, A., Touraine, R, Koenig, M, Lagier Tourenne, C, Messer, J, Philippi, H, Tzeli, Sk, Halldorsson, S, Johannsdottir, J, Ludvigsson, P, Magee, A, Stuart, B, Lev, D, Michelson, M, Ben Zeev, B, Fischetto, R, Gentile, M, Battaglia, Giordano, L, Boccone, L, Ruggieri, M, Bigoni, S, Ferlini, A, Donati, Ma, Procopio, E, Lapi, E, Genuardi, M, Caridi, G, Faravelli, F, Ghiggeri, G, Briuglia, Silvana, Tortorella, Gaetano, Rigoli, Luciana Concetta, SALPIETRO DAMIANO, Carmelo, D’Arrigo, S, Pantaleoni, C, Riva, D, Uziel, G, Laverda, Am, Permunian, A, Bova, S, Fazz, Ei, Sabrina, S, Battini, R, Bertini, E, Dallapiccola, B, Cilio, Mr, Di Sabato, M, Emma, F, Leuzzi, V, Parisi, P, Simonati, A, Al Tawari AA, Bastaki, L, Ahmad Aqueel, A, Jong, Mm, Koul, R, Rajab, A, Sztriha, L, Azam, M, Barbot, C, Rodriguez, B, Pascual Castroviejo, I, Eugen Boltshauser, E, Hulya, H, Comu, S, Akcakus, M, Sahin, Y, Phadke, Sr, Melick, N, Mikati, M, Nicholl, D, Hurst, J, Hennekam, Rcm, Bernes, S, Sanchez, H, Clark, Ae, Wynshaw Boris, A, Donahue, C, Sherr, Eh, Barkovich, Aj, Hahn, D., Sanger, Td, Gallager, Te, Daugherty, C, Krishnamoorthy, Ks, Sarco, D, Walsh CA, Soul, Jmckanna, T, Joanne Milisa, J, Chung, Wk, De Vivo DC, Raynes, H, Schubert, R, Seward, A, Brooks, Dg, Amy Goldstein, A, Caldwell, J, Finsecke, E, Maria, Bl, Cruse, Rp, Lotzete, Swoboda, Kj, Viskochil, Dh, Valente, Em, Woods, Cg, and Gleeson, Jg

Subjects
Cerebellum, Ataxia, TMEM67, Molecular Sequence Data, Biology, Joubert Syndrome, Joubert syndrome, Article, cilia gene ARL13B, mutation, 03 medical and health sciences, 0302 clinical medicine, Ciliogenesis, INPP5E, medicine, Genetics, Animals, Humans, Genetics(clinical), Abnormalities, Multiple, Genetic Predisposition to Disease, Cilia, Genetics (clinical), Conserved Sequence, Zebrafish, 030304 developmental biology, Neurons, 0303 health sciences, Brain Diseases, ADP-Ribosylation Factors, Cilium, Chromosome Mapping, Computational Biology, Syndrome, Mutation, medicine.disease, Cell biology, medicine.anatomical_structure, RPGRIP1L, medicine.symptom, Abnormalities, Multiple, 030217 neurology & neurosurgery
Abstract

Joubert syndrome (JS) and related disorders are a group of autosomal-recessive conditions sharing the “molar tooth sign” on axial brain MRI, together with cerebellar vermis hypoplasia, ataxia, and psychomotor delay. JS is suggested to be a disorder of cilia function and is part of a spectrum of disorders involving retinal, renal, digital, oral, hepatic, and cerebral organs. We identified mutations in ARL13B in two families with the classical form of JS. ARL13B belongs to the Ras GTPase family, and in other species is required for ciliogenesis, body axis formation, and renal function. The encoded Arl13b protein was expressed in developing murine cerebellum and localized to the cilia in primary neurons. Overexpression of human wild-type but not patient mutant ARL13B rescued the Arl13b scorpion zebrafish mutant. Thus, ARL13B has an evolutionarily conserved role mediating cilia function in multiple organs.

Published
2008

5. CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

Author

Brancati, F., Barrano, G., Silhavy, J. L., Marsh, S. E., Travaglini, L., Bielas, S. L., Amorini, M., Zablocka, D., Kayserili, H., Al-Gazali, L., Bertini, E., Boltshauser, E., D'Hooghe, M., Fazzi, Eleonora, Fenerci, E. Y., Hennekam, R. C. M., Kiss, A., Lees, M. M., Marco, E., Phadke, S. R., Rigoli, L., Romano, S., Salpietro, C. D., Sherr, E. H., Signorini, S., Stromme, P., Stuart, B., Sztriha, L., Viskochil, D. H., Yuksel, A., Dallapiccola, B., Valente, E. M., Gleeson, J. G., Grattan-Smith, P., Leventer, R., Janecke, A., Van Coster, R., Dias, K., Moco, C., MOREIRA DA SILVA, CLAUDIA ALEXANDRA, Chong, A. K., Maegawa, G., Abdel-Salam, G. M. H., Abdel-Aleem, A., Zaki, M. S., Marti, I., Quijano-Roy, S., De Lonlay, P., Verloes, A., Touraine, R., Koenig, M., Lagier-Tourenne, C., Messer, J., Philippi, H., Tzeli, S. K., Halldorsson, S., Johannsdottir, J., Ludvigsson, P., Magee, A., Lev, D., Michelson, M., Ben-Zeev, B., Fischetto, R., Gentile, M., Battaglia, S., Giordano, L., Boccone, L., Ruggieri, M., Bigoni, S., Ferlini, A., Donati, M. A., Procopio, E., Caridi, G., Faravelli, F., Ghiggeri, G., Briuglia, S., Tortorella, G., D'Arrigo, S., Pantaleoni, C., Riva, D., Uziel, G., Lavercla, A. M., Permunian, A., Bova, S., Battini, Roberta, Cilio, M. R., DI SABATO, Manuela, Emma, F., Leuzzi, V., Parisi, P., Simonati, A., Al-Tawari, A. A., Bastaki, L., Aqeel, A., De Jong, M. M., Koul, R., Rajab, A., Azam, M., Barbot, C., Rodriguez, B., Pascual-Castroviejo, I., Comu, S., Akcakus, M., Nicholl, D., Woods, C. G., Bennett, C., Hurst, J., Walsh, C. A., Bernes, S., Sanchez, H., Clark, A. E., Donahue, C., Hahn, J., Sanger, T. D., Gallager, T. E., Dobyns, W. B., Daugherty, C., Krishnamoorthy, K. S., Sarco, D., Mckanna, T., Milisa, J., Chung, W. K., De Vivo, D. C., Raynes, H., Schubert, R., Seward, A., Brooks, D. G., Goldstein, A., Caldwell, J., Finsecke, E., Maria, B. L., Holden, K., Cruse, R. P., Swoboda, K. J., ANS - Amsterdam Neuroscience, APH - Amsterdam Public Health, and Paediatric Genetics

Subjects
Male, Pathology, DNA Mutational Analysis, Cell Cycle Proteins, medicine.disease_cause, Ciliopathies, Ocular Motility Disorders, Cohort Studies, Joubert syndrome–related disorders, CEP290, Genetics(clinical), Child, Genetics (clinical), Genetics, Mutation, Brain, Syndrome, Phenotype, Magnetic Resonance Imaging, Kidney Diseases, Molar, Neoplasm Proteins, Child, Preschool, Abnormalities, Multiple, Adolescent, Adult, Antigens, Neoplasm, Female, Humans, Abnormalities, Multiple, medicine.medical_specialty, Biology, Article, Joubert syndrome, Central nervous system disease, medicine, Antigens, Preschool, Genetic heterogeneity, medicine.disease, Cytoskeletal Proteins, Situs inversus, Neoplasm
Abstract

Joubert syndrome–related disorders (JSRDs) are a group of clinically and genetically heterogeneous conditions that share a midbrain-hindbrain malformation, the molar tooth sign (MTS) visible on brain imaging, with variable neurological, ocular, and renal manifestations. Mutations in the CEP290 gene were recently identified in families with the MTS-related neurological features, many of which showed oculo-renal involvement typical of Senior-Löken syndrome (JSRD-SLS phenotype). Here, we performed comprehensive CEP290-mutation analysis on two nonoverlapping cohorts of JSRD-affected patients with a proven MTS. We identified mutations in 19 of 44 patients with JSRD-SLS. The second cohort consisted of 84 patients representing the spectrum of other JSRD subtypes, with mutations identified in only two patients. The data suggest that CEP290 mutations are frequently encountered and are largely specific to the JSRD-SLS subtype. One patient with mutation displayed complete situs inversus, confirming the clinical and genetic overlap between JSRDs and other ciliopathies.

Published
2007

6. Complex consanguinity associated with short rib-polydactyly syndrome III and congenital infection-like syndrome: a diagnostic problem in dysmorphic syndromes

Author

Al-Gazali, L. I., Sztriha, L., adekunle dawodu, Varady, E., Bakir, M., Khdir, A., and Johansen, J.

Subjects
Adult, Male, Infant, Newborn, Brain, Genes, Recessive, Original Articles, Syndrome, Short Rib-Polydactyly Syndrome, Infections, Pedigree, Consanguinity, Humans, Abnormalities, Multiple, Female
Abstract

Short rib-polydactyly syndromes (SRPS) are a heterogeneous group of recessively inherited lethal skeletal dysplasias. Four types have been recognised. However, overlap in the clinical and radiological features of the four types has led to difficulties in distinguishing between them. The congenital infection-like syndrome is an autosomal recessive syndrome characterised by mental retardation, microcephaly, seizures, and intracranial calcifications. We report a complex consanguineous family of Baluchi origin in whom short rib-polydactyly type III and congenital infection-like syndrome are segregating. Four children inherited SRPS III, one inherited congenital infection-like syndrome, and one inherited both. Although the radiological features in all the children with SRPS in this report were typical of type III, there was overlap in the clinical features with the other types of SRP syndromes. Furthermore, the child who inherited both SRPS III and congenital infection-like syndrome had CNS malformations in addition to periventricular calcification. CNS malformations have been described in SRPS types II and IV but not type III. This report further highlights the overlap between the different types of SRP syndrome. Moreover, it draws attention to the importance of considering the possibility of two recessive syndromes in the same child in complex consanguineous families when features overlap two syndromes. Keywords: complex consanguinity; short rib-polydactyly syndrome III; congenital infection-like syndrome

Published
1999

7. Absent pituitary gland and hypoplasia of the cerebellar vermis associated with partial ophthalmoplegia and postaxial polydactyly: a variant of orofaciodigital syndrome VI or a new syndrome?

Author

Li, Al-Gazali, Sztriha L, John Punnose, Shather W, and Nork M

Subjects
Male, Ophthalmoplegia, Hormone Replacement Therapy, Short Report, Brain, Infant, Orofaciodigital Syndromes, Magnetic Resonance Imaging, Diagnosis, Differential, Radiography, Polydactyly, Cerebellum, Child, Preschool, Pituitary Gland, Humans, Female, Blood Chemical Analysis
Abstract

We report two sibs with features overlapping those of orofaciodigital syndrome type VI (Varadi syndrome). Both presented at birth with oculomotor abnormalities, dysmorphic facial features, and dysgenesis of the cerebellar vermis. There were minimal oral manifestations (high arched palate) in both of them and one had postaxial polydactyly of both hands and one foot. In addition, there was evidence of aplasia of the pituitary gland on MRI scan in both of them with evidence of hypopituitarism. Both responded well to hormone replacement therapy with improvement in their linear growth and mental ability. These cases may represent a new autosomal recessive midline defect syndrome with features overlapping OFDS VI. Alternatively the features in these children could represent variability within OFDS VI. Keywords: vermis dysgenesis; absent pituitary; orofaciodigital syndrome VI

Published
1999

8. Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

Author

Petter Strømme, Ferda Ozkinay, Heike Philippi, Pontus Wasling, Sebastien Moutton, Dagmar Timmann, Maria Vázquez-López, Pedro S Pinto, Annette Bley, A. Blaschek, Gabriel Á. Martos-Moreno, A. Micheil Innes, Alan Hill, Argirios Dinopoulos, Fiona Haslam McKenzie, Janice M. Fletcher, Barbara Plecko, Hanna Mierzewska, Matthis Synofzik, Cathy A. Stevens, Raphael Schiffmann, Janina Gburek-Augustat, Miriam Nickel, Constantin Polychronakos, Kether Guerrero, Susan M. Kirwin, Icíar Cimas, Inga Harting, Bwee Tien Poll-The, Vera Popovic, Coriene E. Catsman-Berrevoets, Simona Orcesi, Nicole I. Wolf, Laura Roos, Grace M. Hobson, Norberto Rodriguez Espinosa, Gert Wiegand, Bernard Brais, Julia Rankin, Marjo S. van der Knaap, Cyril Goizet, Michelle Demos, Sandra Pekic, Ingrid Tejera-Martin, Adeline Vanderver, Stefanie Perrier, Brent L. Fogel, Eriskay Liston, Meriel McEntagart, Ferdy K. Cayami, Bart P.C. van de Warrenburg, Anne Ronan, Paolo Gasparini, Bernard Corenblum, Joost Rotteveel, Mercedes Pineda Marfa, Roberta La Piana, Richard Webster, Eugen Boltshauser, Amytice Mirchi, Dietz Rating, Klara Brozova, Ingeborg Krägeloh-Mann, Marcelo Andrés Kauffman, Nesrin Senbil, Gerhard Kluger, Brenda Banwell, Flavio Faletra, Michel Sylvain, Urania Kotzaeridou, Tahir Atik, Raymond Fernandez, Stephan Saikali, William S. Benko, Fernando I Monton, Dorota Gieruszczak-Białek, Dolores Gonzalez Moron, Charles Marques Lourenço, Amy Pizzino, Ana Potic, Elsa Rossignol, Ton J. de Grauw, William T. Gibson, Luan T. Tran, Davide Tonduti, Rosalina M. L. van Spaendonk, Rocío Sánchez-Carpintero, Raymond P J Murphy, Guillaume Sébire, Daniela Pohl, Joshua L. Bonkowsky, Christopher Clough, Sandya Tirupathi, Maria Eugenia Garcia Garcia, Christoph Hertzberg, Serge Melançon, Anjum Misbahuddin, Félixe Pelletier, Evangeline Wassmer, Gail Dolan, Marie-France Rioux, Geneviève Bernard, Sunita Venkateswaran, Steffi Patzer, Aline Hamati, Helio Pedro, Hüseyin Onay, Drago Bratkovic, Petra Kolditz, Daniel Tibussek, Sakkubai Naidu, Nicole Ulrick, Emmanouil Rampakakis, William McClintock, Anna Schossig, Mohnish Suri, Grace Yoon, László Sztriha, John R. Østergaard, Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) (U1211 INSERM/MRGM), Université de Bordeaux (UB)-Groupe hospitalier Pellegrin-Institut National de la Santé et de la Recherche Médicale (INSERM), Canadian Institutes of Health Research, Fonds de recherche du Québec, Fonds de Recherche du Québec - Santé, Neurology, Functional Genomics, Pelletier, F., Perrier, S., Cayami, F. K., Mirchi, A., Saikali, S., Tran, L. T., Ulrick, N., Guerrero, K., Rampakakis, E., van Spaendonk, R. M. L., Naidu, S., Pohl, D., Gibson, W. T., Demos, M., Goizet, C., Tejera-Martin, I., Potic, A., Fogel, B. L., Brais, B., Sylvain, M., Sebire, G., Lourenco, C. M., Bonkowsky, J. L., Catsman-Berrevoets, C., Pinto, P. S., Tirupathi, S., Stromme, P., de Grauw, T., Gieruszczak-Bialek, D., Krageloh-Mann, I., Mierzewska, H., Philippi, H., Rankin, J., Atik, T., Banwell, B., Benko, W. S., Blaschek, A., Bley, A., Boltshauser, E., Bratkovic, D., Brozova, K., Cimas, I., Clough, C., Corenblum, B., Dinopoulos, A., Dolan, G., Faletra, F., Fernandez, R., Fletcher, J., Garcia Garcia, M. E., Gasparini, P., Gburek-Augustat, J., Gonzalez Moron, D., Hamati, A., Harting, I., Hertzberg, C., Hill, A., Hobson, G. M., Innes, A. M., Kauffman, M., Kirwin, S. M., Kluger, G., Kolditz, P., Kotzaeridou, U., La Piana, R., Liston, E., Mcclintock, W., Mcentagart, M., Mckenzie, F., Melancon, S., Misbahuddin, A., Suri, M., Monton, F. I., Moutton, S., Murphy, R. P. J., Nickel, M., Onay, H., Orcesi, S., Ozkinay, F., Patzer, S., Pedro, H., Pekic, S., Pineda Marfa, M., Pizzino, A., Plecko, B., Poll-The, B. T., Popovic, V., Rating, D., Rioux, M. -F., Rodriguez Espinosa, N., Ronan, A., Ostergaard, J. R., Rossignol, E., Sanchez-Carpintero, R., Schossig, A., Senbil, N., Sonderberg Roos, L. K., Stevens, C. A., Synofzik, M., Sztriha, L., Tibussek, D., Timmann, D., Tonduti, D., van de Warrenburg, B. P., Vazquez-Lopez, M., Venkateswaran, S., Wasling, P., Wassmer, E., Webster, R. I., Wiegand, G., Yoon, G., Rotteveel, J., Schiffmann, R., van der Knaap, M. S., Vanderver, A., Martos-Moreno, G. A., Polychronakos, C., Wolf, N. I., Bernard, G., Human genetics, Pediatric surgery, Amsterdam Reproduction & Development (AR&D), and Amsterdam Neuroscience - Cellular & Molecular Mechanisms

Subjects
Male, Recessive Mutations, Mitochondrial Diseases, genetics [Mitochondrial Diseases], hypomyelination, etiology [Endocrine System Diseases], Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Medizin, POLR3A protein, human, genetics [Endocrine System Diseases], Biochemistry, Cohort Studies, 0302 clinical medicine, Endocrinology, etiology [Growth Disorders], Diagnosis, epidemiology [Growth Disorders], 4H leukodystrophy, Online Only articles, Child, Prospective cohort study, Growth Disorders, genetics [Growth Disorders], POLR3-related leukodystrophy, 0303 health sciences, DNA-Directed RNA Polymerases, Pattern-Recognition, Diffuse Hypomyelination, Classification, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], 3. Good health, epidemiology [Hereditary Central Nervous System Demyelinating Diseases], Hormone Deficiency, POLR1C protein, human, Child, Preschool, Female, medicine.symptom, AcademicSubjects/MED00250, Adult, Delayed puberty, Subunit, medicine.medical_specialty, Adolescent, Context (language use), Endocrine System Diseases, Short stature, genetics [Hereditary Central Nervous System Demyelinating Diseases], Genetic Heterogeneity, Young Adult, 03 medical and health sciences, SDG 3 - Good Health and Well-being, hypogonadotropic hypogonadism, Hypogonadotropic hypogonadism, etiology [Hypogonadism], Internal medicine, medicine, genetics [RNA Polymerase III], Humans, Endocrine system, ddc:610, POLR3B protein, human, genetics [DNA-Directed RNA Polymerases], Clinical Research Articles, Retrospective Studies, 030304 developmental biology, complications [Hereditary Central Nervous System Demyelinating Diseases], business.industry, Hypogonadism, Biochemistry (medical), Leukodystrophy, Infant, Newborn, Infant, RNA Polymerase III, medicine.disease, complications [Mitochondrial Diseases], epidemiology [Mitochondrial Diseases], epidemiology [Endocrine System Diseases], Hereditary Central Nervous System Demyelinating Diseases, Cross-Sectional Studies, Biological Variation, Population, Mutation, epidemiology [Hypogonadism], business, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Hormone
Abstract

Context 4H or POLR3-related leukodystrophy is an autosomal recessive disorder typically characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism, caused by biallelic pathogenic variants in POLR3A, POLR3B, POLR1C, and POLR3K. The endocrine and growth abnormalities associated with this disorder have not been thoroughly investigated to date. Objective To systematically characterize endocrine abnormalities of patients with 4H leukodystrophy. Design An international cross-sectional study was performed on 150 patients with genetically confirmed 4H leukodystrophy between 2015 and 2016. Endocrine and growth abnormalities were evaluated, and neurological and other non-neurological features were reviewed. Potential genotype/phenotype associations were also investigated. Setting This was a multicenter retrospective study using information collected from 3 predominant centers. Patients A total of 150 patients with 4H leukodystrophy and pathogenic variants in POLR3A, POLR3B, or POLR1C were included. Main Outcome Measures Variables used to evaluate endocrine and growth abnormalities included pubertal history, hormone levels (estradiol, testosterone, stimulated LH and FSH, stimulated GH, IGF-I, prolactin, ACTH, cortisol, TSH, and T4), and height and head circumference charts. Results The most common endocrine abnormalities were delayed puberty (57/74; 77% overall, 64% in males, 89% in females) and short stature (57/93; 61%), when evaluated according to physician assessment. Abnormal thyroid function was reported in 22% (13/59) of patients. Conclusions Our results confirm pubertal abnormalities and short stature are the most common endocrine features seen in 4H leukodystrophy. However, we noted that endocrine abnormalities are typically underinvestigated in this patient population. A prospective study is required to formulate evidence-based recommendations for management of the endocrine manifestations of this disorder., Canadian Institutes of Health Research [201610PJT-377869, MOP-G2-341146-159133-BRIDG]; Fondation Les Amis d'Elliot; Leuco-Action; Fondation Lueur d'Espoir pour Ayden; Fondation le Tout pour Loo; Reseau de Medecine Genetique Appliquee of the Fonds de Recherche du Quebec-Sante; Compute Canada; Fonds de Recherche du Quebec en Sante (FRQS) Doctoral Scholarship; Fondation du Grand defi Pierre Lavoie Doctoral Scholarship; McGill Faculty of Medicine F. S.B. Miller Fellowship; Research Institute of the McGill University Health Centre Desjardins Studentship in Child Health Research; Directorate of Higher Education Overseas Scholarship-Dikti Scholarship, Ministry of National Education, Republic of Indonesia; CIHR [201603PJT-148695]; BC Children's Hospital Foundation through its intramural Investigator Grant Award Program (IGAP); National Institute for Neurological Disorders and Stroke [R01NS082094]; Jakob Kamens Chair in Translational Neurotherapeutics; Fonds de Recherche du Quebec-Sante (FRQS); Canadian Institutes of Health Research; European Reference Network for Rare Neurological Disorders (ERN-RND) [739510], This study was supported by grants from the Canadian Institutes of Health Research (201610PJT-377869, MOP-G2-341146-159133-BRIDG), Fondation Les Amis d'Elliot, Leuco-Action, Fondation Lueur d'Espoir pour Ayden, Fondation le Tout pour Loo, and Reseau de Medecine Genetique Appliquee of the Fonds de Recherche du Quebec-Sante to G. Bernard. This research was enabled in part by support provided by Compute Canada (www.computecanada.ca).S.Perrier is supported by the Fonds de Recherche du Quebec en Sante (FRQS) Doctoral Scholarship, the Fondation du Grand defi Pierre Lavoie Doctoral Scholarship, the McGill Faculty of Medicine F. S.B. Miller Fellowship, and the Research Institute of the McGill University Health Centre Desjardins Studentship in Child Health Research. F. K.C. is a recipient of the Directorate of Higher Education Overseas Scholarship-Dikti Scholarship, Ministry of National Education, Republic of Indonesia. W.T. G. received funding from the CIHR (201603PJT-148695) and is supported by the BC Children's Hospital Foundation through its intramural Investigator Grant Award Program (IGAP). B.L. F. was supported by the National Institute for Neurological Disorders and Stroke (R01NS082094). A.V. receives funding from the Jakob Kamens Chair in Translational Neurotherapeutics. G. Bernard has received a Research Scholar Junior 1 award from the Fonds de Recherche du Quebec-Sante (FRQS) (2012-2016) and the New Investigator Salary Award from the Canadian Institutes of Health Research (2017-2022). I.K.M., M. Synofzik, D. Tonduti, B.P.v.d.W., M.S. V.d.K., and N.I.W. are members of the European Reference Network for Rare Neurological Disorders (ERN-RND), project ID 739510.

Published
2021

9. Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies

Author

S. Kitsiou Tzeli, Hülya Kayserili, L. Giordano, B. Rodriguez, P. Collignon, V. Sabolic Avramovska, Silvana Briuglia, Christopher A. Walsh, Laila Bastaki, Amy Goldstein, Francesca Faravelli, F. Papadia, A. Permunian, Alessandro Simonati, S. Halldorsson, Gian Marco Ghiggeri, David G. Brooks, Clara Barbot, Kathryn J. Swoboda, Chiara Pantaleoni, O. D'Addato, Jason W. Caldwell, Maria Roberta Cilio, Soumaya Mougou-Zerelli, M. Vascotto, Andreas Zankl, Gaetano Tortorella, Julia Tantau, Elliott H. Sherr, Patrizia Accorsi, Maurizio Genuardi, Carmelo Salpietro, G. Marra, Pierangela Castorina, Petter Strømme, J. Johannsdottir, Bruno Dallapiccola, Kenton R. Holden, Donatella Greco, Maria Spanò, Pasquale Parisi, Roberta Battini, Paola Grammatico, P. Ludvigsson, Dorit Lev, Daria Riva, C. Ae Kim, WB Dobyns, L. Martorell Sampol, Robert P. Cruse, H. Raynes, Sabrina Signorini, A. Seward, Raoul C.M. Hennekam, Elena Andreucci, Manuela Priolo, Banu Anlar, Bernard Stuart, Christopher P. Bennett, S. Comu, Christopher Geoffrey Woods, Vlatka Mejaški-Bošnjak, J. Milisa, Eamonn Sheridan, Melissa Lees, C. Moco, Ender Karaca, Miriam Iannicelli, Annalisa Mazzotta, C. Dacou-Voutetakis, Tania Attié-Bitach, Philippe Loget, D. Petkovic, L. Demerleir, Loredana Boccone, Meriem Tazir, Kalpathy S. Krishnamoorthy, Damir Lončarević, Dominika Swistun, Yves Sznajer, Stefano D'Arrigo, Ginevra Zanni, Angela Barnicoat, Marina Michelson, L. I. Al Gazali, Vincenzo Leuzzi, G. Uziel, A. Adami, B. Gener Querol, V. Udani, M. Di Giacomo, Maryse Bonnière, Enrico Bertini, K. Dias, Edward Blair, Johannes M. Penzien, M. Cazzagon, Susana Quijano-Roy, Trine Prescott, Barbara Scelsa, Giuseppina Vitiello, Francesco Brancati, Gilda Stringini, Trudy McKanna, Roser Pons, Renato Borgatti, M. Gentile, Dean Sarco, C. Von Der Lippe, Eugen Boltshauser, Luigina Spaccini, A. Pessagno, Alex Magee, Marilena Briguglio, Margherita Silengo, Lena Starck, M. L. Di Sabato, Roshan Koul, Nicole I. Wolf, A. M. Laverda, Elizabeth Flori, Clotilde Lagier-Tourenne, A. Matuleviciene, Matloob Azam, Kathrin Ludwig, Ghada M H Abdel-Salam, Atıl Yüksel, Johannes R. Lemke, Stefania Bigoni, Elizabeth Said, Anna Rajab, Mary Kay Koenig, Andreas R. Janecke, Asma A. Al-Tawari, Agnese Suppiej, Henry Sanchez, Wendy K. Chung, P. Guanciali, Heike Philippi, Silvia Majore, E. DeMarco, J. Hahn, Gianluca Caridi, Marc D'Hooghe, M. M. De Jong, M. Akcakus, Franco Stanzial, Silvia Battaglia, Gian Luigi Ardissino, Giangennaro Coppola, Jane A. Hurst, Terry D. Sanger, Alessandra Renieri, Nadia Elkhartoufi, Rita Fischetto, Alex E. Clark, S. Strozzi, S. Romano, Alain Verloes, Marzia Pollazzon, Elisa Fazzi, L. Yates, Faustina Lalatta, Sabine Sigaudy, Alessandra D'Amico, Brigitte Leroy, Joel Victor Fluss, David Viskochil, Alice Abdel-Aleem, Darryl C. De Vivo, Padraic Grattan-Smith, Corrado Romano, D. Nicholl, Regine Schubert, A. Moreira, Claudia Izzi, Barbara Gentilin, Gustavo Maegawa, Céline Gomes, László Sztriha, C. Donahue, Luciana Rigoli, Jean Messer, Sophie Thomas, E. Del Giudice, R. Van Coster, André Mégarbané, Ignacio Pascual-Castroviejo, Alessandra Ferlini, Topcu, R. Touraine, Ginevra Guanti, Lorena Travaglini, L. Ali Pacha, R. De Vescovi, Enza Maria Valente, Filippo Bernardi, L. Carr, Shubha R. Phadke, S. Bernes, Maria Teresa Divizia, C. Daugherty, M. Akgul, C. Macaluso, Maha S. Zaki, E. Finsecke, Itxaso Marti, Lorenzo Pinelli, F. McKay, Maria Amorini, Joseph G. Gleeson, F. Benedicenti, Bruria Ben-Zeev, Carla Uggetti, R. Romoli, Richard J. Leventer, Francesco Emma, T. E. Gallager, P. De Lonlay, Marco Seri, Bernard L. Maria, M.A. Donati, Bosanka Jocic-Jakubi, IANNICELLI M, BRANCATI F, MOUGOU-ZERELLI S, MAZZOTTA A, THOMAS S, ELKHARTOUFI N, TRAVAGLINI L, GOMES C, ARDISSINO GL, BERTINI E, BOLTSHAUSER E, CASTORINA P, D'ARRIGO S, FISCHETTO R, LEROY B, LOGET P, BONNIÈRE M, STARCK L, TANTAU J, GENTILIN B, MAJORE S, SWISTUN D, FLORI E, LALATTA F, PANTALEONI C, PENZIEN J, GRAMMATICO P, INTERNATIONAL JSRD STUDY GROUP, DALLAPICCOLA B, GLEESON JG, ATTIE-BITACH T, VALENTE EM. COLLABORATORS: ALI PACHA L, TAZIR M, ZANKL A, LEVENTER R, GRATTAN-SMITH P, JANECKE A, D'HOOGHE M, SZNAJER Y, VAN COSTER R, DEMERLEIR L, DIAS K, MOCO C, MOREIRA A, AE KIM C, MAEGAWA G, LONCAREVIC D, MEJASKI-BOSNJAK V, PETKOVIC D, ABDEL-SALAM GM, ABDEL-ALEEM A, ZAKI MS, MARTI I, QUIJANO-ROY S, SIGAUDY S, DE LONLAY P, ROMANO S, VERLOES A, TOURAINE R, KOENIG M, LAGIER-TOURENNE C, MESSER J, COLLIGNON P, WOLF N, PHILIPPI H, LEMKE J, DACOU-VOUTETAKIS C, KITSIOU TZELI S, PONS R, SZTRIHA L, HALLDORSSON S, JOHANNSDOTTIR J, LUDVIGSSON P, PHADKE SR, UDANI V, STUART B, MAGEE A, LEV D, MICHELSON M, BEN-ZEEV B, DI GIACOMO M, GENTILE M, GUANTI G, D'ADDATO O, PAPADIA F, SPANO M, BERNARDI F, SERI M, BENEDICENTI F, STANZIAL F, BORGATTI R, ACCORSI P, BATTAGLIA S, FAZZI E, GIORDANO L, IZZI C, PINELLI L, BOCCONE L, GUANCIALI P, ROMOLI R, BIGONI S, FERLINI A, ANDREUCCI E, DONATI MA, GENUARDI M, CARIDI G, DIVIZIA MT, FARAVELLI F, GHIGGERI G, PESSAGNO, AMORINI M, BRIGUGLIO M, BRIUGLIA S, RIGOLI L, SALPIETRO C, TORTORELLA G, ADAMI A, MARRA G, RIVA D, SCELSA B, SPACCINI L, UZIEL G, COPPOLA G, DEL GIUDICE E, VITIELLO G, LAVERDA AM, LUDWIG K, PERMUNIAN A, SUPPIEJ A, MACALUSO C, SIGNORINI S, UGGETTI C, BATTINI R, PRIOLO M, CILIO MR, D'AMICO A, DI SABATO ML, EMMA F, LEUZZI V, PARISI P, STRINGINI G, ZANNI G, POLLAZZON M, RENIERI A, VASCOTTO M, SILENGO M, DE VESCOVI R, GRECO D, ROMANO C, CAZZAGON M, SIMONATI A, AL-TAWARI AA, BASTAKI L, MÉGARBANÉ A, MATULEVICIENE A, SABOLIC AVRAMOVSKA V, SAID E, DE JONG MM, PRESCOTT T, STROMME P, VON DER LIPPE C, KOUL R, RAJAB A, AZAM M, BARBOT C, JOCIC-JAKUBI B, GENER QUEROL B, MARTORELL SAMPOL L, RODRIGUEZ B, PASCUAL-CASTROVIEJO I, STROZZI S, FLUSS J, TEBER S, TOPCU M, ANLAR B, COMU S, KARACA E, KAYSERILI H, YÜKSEL A, AKGUL M, AKCAKUS M, AL GAZALI L, NICHOLL D, WOODS CG, BENNETT C, HURST J, SHERIDAN E, BARNICOAT A, CARR L, HENNEKAM R, LEES M, MCKAY F, YATES L, BLAIR E, BERNES S, SANCHEZ H, CLARK AE, DEMARCO E, DONAHUE C, SHERR E, HAHN J, SANGER TD, GALLAGER TE, DOBYNS WB, DAUGHERTY C, KRISHNAMOORTHY KS, SARCO D, WALSH CA, MCKANNA T, MILISA J, CJUNG WK, DE VIVO DC, RAYNES H, SCHUBERT R, SEWARD A, BROOKS DG, GOLDSTEIN A, CALDWELL J, FINSECKE E, MARIA BL, HOLDEN K, CRUSE RP, SWOBODA KJ, VISKOCHIL D., Pediatric surgery, NCA - Childhood White Matter Diseases, Iannicelli, M, Brancati, F, Mougou Zerelli, S, Mazzotta, A, Thomas, S, Elkhartoufi, N, Travaglini, L, Gomes, C, Ardissino, Gl, Bertini, E, Boltshauser, E, Castorina, P, D'Arrigo, S, Fischetto, R, Leroy, B, Loget, P, Bonnière, M, Starck, L, Tantau, J, Gentilin, B, Majore, S, Swistun, D, Flori, E, Lalatta, F, Pantaleoni, C, Penzien, J, Grammatico, P, Dallapiccola, B, Gleeson, Jg, Attie Bitach, T, Valente, Em, International JSRD Study, Group, DEL GIUDICE, Ennio, University of Zurich, and Attie-Bitach, T

Subjects
Liver Cirrhosis, 2716 Genetics (clinical), meckelin, Ciliopathies, Joubert syndrome, Genotype, congenital hepatic fibrosis, coach syndrome, mks3, meckel syndrome, joubert syndrome, tmem67, TMEM67, Meckel syndrome, DNA Mutational Analysis, 610 Medicine & health, Biology, medicine.disease_cause, MKS3, COACH syndrome, Article, NO, 1311 Genetics, Nephronophthisis, Pregnancy, Prenatal Diagnosis, Genetics, medicine, COACH syndrome, Congenital hepatic fibrosis, Joubert syndrome, Meckel syndrome, MKS3, TMEM67, Missense mutation, Humans, Abnormalities, Multiple, Genetics (clinical), Mutation, Cilium, Membrane Proteins, Kidney Diseases, Cystic, medicine.disease, Phenotype, 10036 Medical Clinic, Female
Abstract

Human ciliopathies are hereditary conditions caused by defects of proteins expressed at the primary cilium. Among ciliopathies, Joubert syndrome and related disorders (JSRD), Meckel syndrome (MKS) and nephronophthisis (NPH) present clinical and genetic overlap, being allelic at several loci. One of the most interesting gene is TMEM67, encoding the transmembrane protein meckelin. We performed mutation analysis of TMEM67 in 341 probands, including 265 JSRD representative of all clinical subgroups and 76 MKS fetuses. We identified 33 distinct mutations, of which 20 were novel, in 8/10 (80%) JS with liver involvement (COACH phenotype) and 12/76 (16%) MKS fetuses. No mutations were found in other JSRD subtypes, confirming the strong association between TMEM67 mutations and liver involvement. Literature review of all published TMEM67 mutated cases was performed to delineate genotype-phenotype correlates. In particular, comparison of the types of mutations and their distribution along the gene in lethal versus non lethal phenotypes showed in MKS patients a significant enrichment of missense mutations falling in TMEM67 exons 8 to 15, especially when in combination with a truncating mutation. These exons encode for a region of unknown function in the extracellular domain of meckelin.

Published
2010

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