{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T21:58:05Z","timestamp":1790805485386,"version":"4.1.0"},"reference-count":98,"publisher":"Oxford University Press (OUP)","issue":"8","license":[{"start":{"date-parts":[[2024,3,8]],"date-time":"2024-03-08T00:00:00Z","timestamp":1709856000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100004440","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["WT093205 MA"],"award-info":[{"award-number":["WT093205 MA"]}],"id":[{"id":"10.13039\/100004440","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004440","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["WT104033AIA"],"award-info":[{"award-number":["WT104033AIA"]}],"id":[{"id":"10.13039\/100004440","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000690","name":"UK Medical Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000690","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000268","name":"UK Biotechnology and Biological Sciences Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000268","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100013128","name":"Multiple System Atrophy Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100013128","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000864","name":"Michael J. Fox Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000864","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Fidelity Trust"},{"DOI":"10.13039\/501100000833","name":"Rosetrees Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000833","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000346","name":"Ataxia UK","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000346","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100013790","name":"Brain Research UK","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100013790","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001279","name":"Great Ormond Street Hospital Charity","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001279","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002283","name":"Alzheimer\u2019s Research UK","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002283","id-type":"DOI","asserted-by":"publisher"}]},{"name":"CureDRPLA"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,8,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Inherited glycosylphosphatidylinositol deficiency disorders (IGDs) are a group of rare multisystem disorders arising from pathogenic variants in glycosylphosphatidylinositol anchor pathway (GPI-AP) genes. Despite associating 24 of at least 31 GPI-AP genes with human neurogenetic disease, prior reports are limited to single genes without consideration of the GPI-AP as a whole and with limited natural history data.<\/jats:p>\n               <jats:p>In this multinational retrospective observational study, we systematically analyse the molecular spectrum, phenotypic characteristics and natural history of 83 individuals from 75 unique families with IGDs, including 70 newly reported individuals; the largest single cohort to date.<\/jats:p>\n               <jats:p>Core clinical features were developmental delay or intellectual disability (DD\/ID, 90%), seizures (83%), hypotonia (72%) and motor symptoms (64%). Prognostic and biologically significant neuroimaging features included cerebral atrophy (75%), cerebellar atrophy (60%), callosal anomalies (57%) and symmetric restricted diffusion of the central tegmental tracts (60%). Sixty-one individuals had multisystem involvement including gastrointestinal (66%), cardiac (19%) and renal (14%) anomalies. Though dysmorphic features were appreciated in 82%, no single dysmorphic feature had a prevalence &amp;gt;30%, indicating substantial phenotypic heterogeneity. Follow-up data were available for all individuals, 15 of whom were deceased at the time of writing. Median age at seizure onset was 6 months. Individuals with variants in synthesis stage genes of the GPI-AP exhibited a significantly shorter time to seizure onset than individuals with variants in transamidase and remodelling stage genes of the GPI-AP (P = 0.046). Forty individuals had intractable epilepsy. The majority of individuals experienced delayed or absent speech (95%), motor delay with non-ambulance (64%), and severe-to-profound DD\/ID (59%). Individuals with a developmental epileptic encephalopathy (51%) were at greater risk of intractable epilepsy (P = 0.003), non-ambulance (P = 0.035), ongoing enteral feeds (P &amp;lt; 0.001) and cortical visual impairment (P = 0.007). Serial neuroimaging showed progressive cerebral volume loss in 87.5% and progressive cerebellar atrophy in 70.8%, indicating a neurodegenerative process. Genetic analyses identified 93 unique variants (106 total), including 22 novel variants. Exploratory analyses of genotype-phenotype correlations using unsupervised hierarchical clustering identified novel genotypic predictors of clinical phenotype and long-term outcome with meaningful implications for management.<\/jats:p>\n               <jats:p>In summary, we expand both the mild and severe phenotypic extremities of the IGDs, provide insights into their neurological basis, and vitally, enable meaningful genetic counselling for affected individuals and their families.<\/jats:p>","DOI":"10.1093\/brain\/awae056","type":"journal-article","created":{"date-parts":[[2024,3,7]],"date-time":"2024-03-07T14:39:01Z","timestamp":1709822341000},"page":"2775-2790","source":"Crossref","is-referenced-by-count":18,"title":["The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders"],"prefix":"10.1093","volume":"147","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1985-5503","authenticated-orcid":false,"given":"Jai","family":"Sidpra","sequence":"first","affiliation":[{"name":"Developmental Biology and Cancer Section, University College London Great Ormond Street Institute of Child Health , London WC1N 1EH , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sniya","family":"Sudhakar","sequence":"additional","affiliation":[{"name":"Department of Neuroradiology, Great Ormond Street Hospital for Children NHS Foundation Trust , London WC1N 3JH , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2010-9524","authenticated-orcid":false,"given":"Asthik","family":"Biswas","sequence":"additional","affiliation":[{"name":"Department of Neuroradiology, Great Ormond Street Hospital for Children NHS Foundation Trust , London WC1N 3JH , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Flavia","family":"Massey","sequence":"additional","affiliation":[{"name":"Unit of Functional Neurosurgery, National Hospital for Neurology and Neurosurgery , London WC1N 3BG , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"Turchetti","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Disorders, University College London Queen Square Institute of Neurology , London WC1N 3BG , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tracy","family":"Lau","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Disorders, University College London Queen Square Institute of Neurology , London WC1N 3BG , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edward","family":"Cook","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Children\u2019s Hospital of Philadelphia , Philadelphia, PA 19104 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Javeria Raza","family":"Alvi","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology, The Children\u2019s Hospital and the University of Child Health Sciences , Lahore, Punjab 54000 , Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hasnaa M","family":"Elbendary","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre , Dokki, Cairo 12622 , Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jerry L","family":"Jewell","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology, Children\u2019s Hospital Colorado, University of Colorado School of Medicine , Aurora, CO 80045 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonella","family":"Riva","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova and IRCCS Istituto Giannina Gaslini , 16147 Genova , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Orsini","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology, University Hospital of Pisa , 56126 Pisa , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aglaia","family":"Vignoli","sequence":"additional","affiliation":[{"name":"Childhood and Adolescence Neurology and Psychiatry Unit, ASST GOM Niguarda, Health Sciences Department, Universit\u00e0 degli Studi di Milano , 20142 Milano , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zara","family":"Federico","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova and IRCCS Istituto Giannina Gaslini , 16147 Genova , Italy"},{"name":"Childhood and Adolescence Neurology and Psychiatry Unit, ASST GOM Niguarda, Health Sciences Department, Universit\u00e0 degli Studi di Milano , 20142 Milano , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica","family":"Rosenblum","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Antwerp University Hospital, University of Antwerp , 2650 Edegem , Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"An-Sofie","family":"Schoonjans","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology, Antwerp University Hospital, University of Antwerp , 2650 Edegem , Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthias","family":"de Wachter","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology, Antwerp University Hospital, University of Antwerp , 2650 Edegem , Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ignacio","family":"Delgado Alvarez","sequence":"additional","affiliation":[{"name":"Department of Neuroradiology, Vall d\u2019Hebron University Hospital , 08035 Barcelona , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Felipe-Ruci\u00e1n","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology, Vall d\u2019Hebron University Hospital , 08035 Barcelona , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6045-3309","authenticated-orcid":false,"given":"Nourelhoda A","family":"Haridy","sequence":"additional","affiliation":[{"name":"Department of Neurology, Faculty of Medicine, Assiut University , Assiut 71515 , Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shahzad","family":"Haider","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Wah Medical College NUMS , Wah Cantonment, Punjab 47000 , Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mashaya","family":"Zaman","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology and Development, Dr M.R. 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UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rajan","family":"Patel","sequence":"additional","affiliation":[{"name":"Department of Paediatric Radiology, Texas Children\u2019s Hospital, Baylor College of Medicine, Houston , Houston, TX 77030 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rupa","family":"Radhakrishnan","sequence":"additional","affiliation":[{"name":"Department of Radiology and Imaging Sciences, Indiana University School of Medicine , Indianapolis, IN 46202 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sanjay P","family":"Prabhu","sequence":"additional","affiliation":[{"name":"Department of Radiology, Boston Children\u2019s Hospital, Harvard Medical School , Boston, MA 02115 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Klaske","family":"Lichtenbelt","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, University Medical Centre Utrecht , 3584 CX Utrecht , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Stewart","sequence":"additional","affiliation":[{"name":"Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust , Oxford OX3 7HE , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshiko","family":"Murakami","sequence":"additional","affiliation":[{"name":"Laboratory of Immunoglycobiology, Research Institute for Microbial Diseases, Osaka University , Osaka 565 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrike","family":"L\u00f6bel","sequence":"additional","affiliation":[{"name":"Department of Neuroradiology, Great Ormond Street Hospital for Children NHS Foundation Trust , London WC1N 3JH , 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UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleanor","family":"Hay","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Great Ormond Street Hospital for Children NHS Foundation Trust , London WC1N 3JH , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5575-8351","authenticated-orcid":false,"given":"Sanjay","family":"Bhate","sequence":"additional","affiliation":[{"name":"Department of Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust , London WC1N 3JH , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas S","family":"Jacques","sequence":"additional","affiliation":[{"name":"Developmental Biology and Cancer Section, University College London Great Ormond Street Institute of Child Health , London WC1N 1EH , UK"},{"name":"Department of Histopathology, Great Ormond Street Hospital for Children NHS Foundation Trust , London WC1N 3JH , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David M","family":"Mirsky","sequence":"additional","affiliation":[{"name":"Department of Neuroradiology, Children\u2019s Hospital Colorado, University of Colorado School of Medicine , Aurora, CO 80045 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew T","family":"Whitehead","sequence":"additional","affiliation":[{"name":"Division of Neuroradiology, Children\u2019s Hospital of Philadelphia , Philadelphia, PA 19104 , USA"},{"name":"Perelman School of Medicine, University of Pennsylvania , Philadelphia, PA 19104 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maha S","family":"Zaki","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre , Dokki, Cairo 12622 , Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tipu","family":"Sultan","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology, The Children\u2019s Hospital and the University of Child Health Sciences , Lahore, Punjab 54000 , Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pasquale","family":"Striano","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova and IRCCS Istituto Giannina Gaslini , 16147 Genova , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna C","family":"Jansen","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology, Antwerp University Hospital, University of Antwerp , 2650 Edegem , Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maarten","family":"Lequin","sequence":"additional","affiliation":[{"name":"Department of Radiology and Nuclear Medicine, University Medical Centre Utrecht , 3584 CX Utrecht , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda S","family":"de Vries","sequence":"additional","affiliation":[{"name":"Department of Neonatology, University Medical Centre Utrecht , 3584 CX Utrecht , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4730-5322","authenticated-orcid":false,"given":"Mariasavina","family":"Severino","sequence":"additional","affiliation":[{"name":"Neuroradiology Unit, IRCCS Istituto Giannina Gaslini , 16147 Genova , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew C","family":"Edmondson","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Children\u2019s Hospital of Philadelphia , Philadelphia, PA 19104 , USA"},{"name":"Perelman School of Medicine, University of Pennsylvania , Philadelphia, PA 19104 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lara","family":"Menzies","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Great Ormond Street Hospital for Children NHS Foundation Trust , London WC1N 3JH , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe M","family":"Campeau","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, CHU Sainte Justine Research Centre, University of Montreal , Montreal QC H3T 1C5 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2866-7777","authenticated-orcid":false,"given":"Henry","family":"Houlden","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Disorders, University College London Queen Square Institute of Neurology , London WC1N 3BG 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