{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T13:16:17Z","timestamp":1791206177264,"version":"4.1.0"},"reference-count":42,"publisher":"Oxford University Press (OUP)","issue":"9","license":[{"start":{"date-parts":[[2021,8,20]],"date-time":"2021-08-20T00:00:00Z","timestamp":1629417600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100018433","name":"Hesperia Foundation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100018433","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Asociaci\u00f3n Espa\u00f1ola contra las Leucodistrofias"},{"name":"Autonomous Government of Catalonia","award":["SGR 2017SGR1206"],"award-info":[{"award-number":["SGR 2017SGR1206"]}]},{"name":"Autonomous Government of Catalonia","award":["URD-Cat SLT002\/16\/00174"],"award-info":[{"award-number":["URD-Cat SLT002\/16\/00174"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,10,22]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Phosphoinositides are lipids that play a critical role in processes such as cellular signalling, ion channel activity and membrane trafficking. When mutated, several genes that encode proteins that participate in the metabolism of these lipids give rise to neurological or developmental phenotypes. PI4KA is a phosphoinositide kinase that is highly expressed in the brain and is essential for life. Here we used whole exome or genome sequencing to identify 10 unrelated patients harbouring biallelic variants in PI4KA that caused a spectrum of conditions ranging from severe global neurodevelopmental delay with hypomyelination and developmental brain abnormalities to pure spastic paraplegia. Some patients presented immunological deficits or genito-urinary abnormalities. Functional analyses by western blotting and immunofluorescence showed decreased PI4KA levels in the patients\u2019 fibroblasts. Immunofluorescence and targeted lipidomics indicated that PI4KA activity was diminished in fibroblasts and peripheral blood mononuclear cells. In conclusion, we report a novel severe metabolic disorder caused by PI4KA malfunction, highlighting the importance of phosphoinositide signalling in human brain development and the myelin sheath.<\/jats:p>","DOI":"10.1093\/brain\/awab124","type":"journal-article","created":{"date-parts":[[2021,3,16]],"date-time":"2021-03-16T13:02:49Z","timestamp":1615899769000},"page":"2659-2669","source":"Crossref","is-referenced-by-count":55,"title":["Biallelic<i>PI4KA<\/i>variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy"],"prefix":"10.1093","volume":"144","author":[{"given":"Edgard","family":"Verdura","sequence":"first","affiliation":[{"name":"Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain"},{"name":"Centre for Biomedical Research in Network on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agust\u00ed","family":"Rodr\u00edguez-Palmero","sequence":"additional","affiliation":[{"name":"Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain"},{"name":"Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol, Universitat Aut\u00f2noma de Barcelona, Catalonia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"V\u00e9lez-Santamaria","sequence":"additional","affiliation":[{"name":"Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain"},{"name":"Neuromuscular Unit, Neurology Department, Hospital Universitari de Bellvitge, Universitat de Barcelona, L\u2019Hospitalet de Llobregat, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Planas-Serra","sequence":"additional","affiliation":[{"name":"Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain"},{"name":"Centre for Biomedical Research in Network on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene","family":"de la Calle","sequence":"additional","affiliation":[{"name":"Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3132-3342","authenticated-orcid":false,"given":"Miquel","family":"Raspall-Chaure","sequence":"additional","affiliation":[{"name":"Neurology Research Group, Vall d\u2019Hebron 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