Hadjivassiliou, Marios
https://orcid.org/0000-0003-2542-8954
Mayo Clinic
Sheffield Teaching Hospitals NHS Foundation Trust
Citations 2
De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity
Benkirane, Mehdi , Bonhomme, Marion , Morsy, Heba , Marelli, Cécilia , Chaussenot, Annabelle , Smedley, Damian , Cipriani, Valentina , Sainte-Agathe, Jean-Madeleine de, Ding, Can, Larrieu, Lise, Vestito, Letizia , Margot, Henri , Ramond, Francis , Castrioto, Anna , Sansa, Emna, Haetty, Aline, Bergougnoux, Anne , Pointaux, Morgane, Ardouin, Olivier , Goethem, Charles Van , Vincent, Marie‐Claire, Hadjivassiliou, Marios , Cossée, Mireille , Rouaud, Tiphaine , Bartsch, Oliver , Wierenga, Klaas J. , Klee, Eric W. , Vandrovcová, Jana , Debant, Anne , Koenig, Michel, Smedley, Damian , Baux, David , Verheijen, Jan , Freeman, William D , Klee, Eric W , Vandrovcova, Jana , Houlden, Henry , Safgren, Stephanie L. , Agathe, Jean‐Madeleine de Sainte , Ding, Can, Lesca, Gaëtan , Sansa, Emna, Giunti, Paola , Freeman, William D. , Houlden, Henry , Koenig, Michel
Brain | June 14, 2024 | Volume: 147 | Issue: 11 | Pages: 3681-3689
Abstract Alpha-tubulin 4A encoding gene (TUBA4A) has been associated with familial amyotrophic lateral sclerosis and frontotemporal dementia, based on identification of likely pathogenic variants in patients from distinct amyotrophic lateral sclerosis and frontotemporal dementia cohorts. By screening a multicentric French cohort of 448 unrelated probands presenting with cerebellar ataxia, we identified ultra-rare TUBA4A missense variants, all being absent from public databases and predicted pathogenic by multiple in silico tools. In addition, gene burden analyses in the 100 000 Genomes project (100KGP) showed enrichment of TUBA4A rare variants in the inherited ataxia group compared to controls [odds ratio: 57.0847 (10.2−576.7); P = 4.02 ×10−7]. Taken together, we report 12 patients presenting with spasticity and/or cerebellar ataxia and harbouring a predicted pathogenic TUBA4A missense mutation, including five confirmed de novo cases and a mutation previously reported in a large family presenting with spastic ataxia. Cultured fibroblasts from three patients harbouring distinct TUBA4A missense showed significant alterations in microtubule organization and dynamics, providing insight of TUBA4A variants pathogenicity. Our data confirm the identification of a hereditary spastic ataxia disease gene with variable age of onset, expanding the clinical spectrum of TUBA4A associated phenotypes.
Diagnosis and management of adult coeliac disease: guidelines from the British Society of Gastroenterology
Bai, Julio C. , Biagi, Federico , Card, Tim , Ciacci, Carolina , Ciclitira, Paul J. , Green, Peter H.R. , Hadjivassiliou, Marios , Holdoway, Anne , Heel, David A. van , Kaukinen, Katri , Leffler, Daniel A. , Leonard, Jonathan N., McGough, Norma, Davidson, Mike, Swift, G L, Walker, Marjorie M. , Zingone, Fabiana , Sanders, David S. , Group, Authors of the BSG Coeliac Disease Guidelines Development, Ludvigsson, Jonas F. , Lundin, Knut E. A. , Murray, Joseph A. , Group, Authors of the BSG Coeliac Disease Guidelines Development, van Heel, David A , Ciacci, Carolina
Gut | June 11, 2014 | Volume: 63 | Issue: 8 | Pages: 1210-1228
A multidisciplinary panel of 18 physicians and 3 non-physicians from eight countries (Sweden, UK, Argentina, Australia, Italy, Finland, Norway and the USA) reviewed the literature on diagnosis and management of adult coeliac disease (CD). This paper presents the recommendations of the British Society of Gastroenterology. Areas of controversies were explored through phone meetings and web surveys. Nine working groups examined the following areas of CD diagnosis and management: classification of CD; genetics and immunology; diagnostics; serology and endoscopy; follow-up; gluten-free diet; refractory CD and malignancies; quality of life; novel treatments; patient support; and screening for CD.