{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T04:04:41Z","timestamp":1792469081352,"version":"4.5.0"},"reference-count":43,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2021,8,11]],"date-time":"2021-08-11T00:00:00Z","timestamp":1628640000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,3,29]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Subcellular membrane systems are highly enriched in dolichol, whose role in organelle homeostasis and endosomal-lysosomal pathway remains largely unclear besides being involved in protein glycosylation. DHDDS encodes for the catalytic subunit (DHDDS) of the enzyme cis-prenyltransferase (cis-PTase), involved in dolichol biosynthesis and dolichol-dependent protein glycosylation in the endoplasmic reticulum. An autosomal recessive form of retinitis pigmentosa (retinitis pigmentosa 59) has been associated with a recurrent DHDDS variant. Moreover, two recurring de novo substitutions were detected in a few cases presenting with neurodevelopmental disorder, epilepsy and movement disorder.<\/jats:p>\n               <jats:p>We evaluated a large cohort of patients (n = 25) with de novo pathogenic variants in DHDDS and provided the first systematic description of the clinical features and long-term outcome of this new neurodevelopmental and neurodegenerative disorder. The functional impact of the identified variants was explored by yeast complementation system and enzymatic assay.<\/jats:p>\n               <jats:p>Patients presented during infancy or childhood with a variable association of neurodevelopmental disorder, generalized epilepsy, action myoclonus\/cortical tremor and ataxia. Later in the disease course, they experienced a slow neurological decline with the emergence of hyperkinetic and\/or hypokinetic movement disorder, cognitive deterioration and psychiatric disturbances. Storage of lipidic material and altered lysosomes were detected in myelinated fibres and fibroblasts, suggesting a dysfunction of the lysosomal enzymatic scavenger machinery. Serum glycoprotein hypoglycosylation was not detected and, in contrast to retinitis pigmentosa and other congenital disorders of glycosylation involving dolichol metabolism, the urinary dolichol D18\/D19 ratio was normal. Mapping the disease-causing variants into the protein structure revealed that most of them clustered around the active site of the DHDDS subunit. Functional studies using yeast complementation assay and in vitro activity measurements confirmed that these changes affected the catalytic activity of the cis-PTase and showed growth defect in yeast complementation system as compared with the wild-type enzyme and retinitis pigmentosa-associated protein.<\/jats:p>\n               <jats:p>In conclusion, we characterized a distinctive neurodegenerative disorder due to de novo DHDDS variants, which clinically belongs to the spectrum of genetic progressive encephalopathies with myoclonus. Clinical and biochemical data from this cohort depicted a condition at the intersection of congenital disorders of glycosylation and inherited storage diseases with several features akin to of progressive myoclonus epilepsy such as neuronal ceroid lipofuscinosis and other lysosomal disorders.<\/jats:p>","DOI":"10.1093\/brain\/awab299","type":"journal-article","created":{"date-parts":[[2021,8,10]],"date-time":"2021-08-10T19:11:28Z","timestamp":1628622688000},"page":"208-223","source":"Crossref","is-referenced-by-count":47,"title":["<i>De novo DHDDS<\/i> variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus"],"prefix":"10.1093","volume":"145","author":[{"given":"Serena","family":"Galosi","sequence":"first","affiliation":[{"name":"Department of Human Neuroscience, Sapienza University, Rome 00185, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ban H","family":"Edani","sequence":"additional","affiliation":[{"name":"Vascular Biology and Therapeutics Program, Yale University School of Medicine, New Haven, CT 06520, USA"},{"name":"Department of Pharmacology, Yale University School of Medicine, New Haven, CT 06520, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5843-419X","authenticated-orcid":false,"given":"Simone","family":"Martinelli","sequence":"additional","affiliation":[{"name":"Department of Oncology and Molecular Medicine, Istituto Superiore di Sanit\u00e0, Rome 00161, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hana","family":"Hansikova","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague 12808, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erik A","family":"Eklund","sequence":"additional","affiliation":[{"name":"Section for Pediatrics, Department of Clinical Sciences, Lund University, Lund 22184, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caterina","family":"Caputi","sequence":"additional","affiliation":[{"name":"Department of Human Neuroscience, Sapienza University, Rome 00185, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Masuelli","sequence":"additional","affiliation":[{"name":"Department of Experimental Medicine, Sapienza University, Rome 00161, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole","family":"Corsten-Janssen","sequence":"additional","affiliation":[{"name":"Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen 9700, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Myriam","family":"Srour","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, McGill University, Montreal, QC H4A 3J1, Canada"},{"name":"Department of Neurology and Neurosurgery, McGill University, Montreal, QC H4A 3J1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renske","family":"Oegema","sequence":"additional","affiliation":[{"name":"Department of Genetics, University Medical Center Utrecht, Utrecht 3584 CX, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dani\u00eblle G M","family":"Bosch","sequence":"additional","affiliation":[{"name":"Department of Genetics, University Medical Center Utrecht, Utrecht 3584 CX, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Colin A","family":"Ellis","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louise","family":"Amlie-Wolf","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Nemours\/A I duPont Hospital for Children, Wilmington, 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W","family":"Bara\u00f1ano","sequence":"additional","affiliation":[{"name":"Department of Neurology, Johns Hopkins School of Medicine, Baltimore, MD 21287, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto","family":"Bei","sequence":"additional","affiliation":[{"name":"Department of Clinical Sciences and Translational Medicine, University of Rome \u2018Tor Vergata\u2019, Rome 00133, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene","family":"Bagnasco","sequence":"additional","affiliation":[{"name":"Division of Neuropsychiatry, Epilepsy Center for Children, Martini Hospital, Turin 10128, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8318-7231","authenticated-orcid":false,"given":"Alfredo","family":"Brusco","sequence":"additional","affiliation":[{"name":"Department of Medical Sciences, University of Torino & Medical Genetics Unit, Citt\u00e0 della Salute e della Scienza University Hospital, Turin 10126, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Scott","family":"Demarest","sequence":"additional","affiliation":[{"name":"Children's Hospital Colorado, Aurora, CO 80045, USA"},{"name":"Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO 80045, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne-Sophie","family":"Alaix","sequence":"additional","affiliation":[{"name":"Hopital Universitaire Necker Enfants Malades APHP, Paris 75015, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo","family":"Di Bonaventura","sequence":"additional","affiliation":[{"name":"Department of Human Neuroscience, Sapienza University, Rome 00185, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8460-3738","authenticated-orcid":false,"given":"Felix","family":"Distelmaier","sequence":"additional","affiliation":[{"name":"Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty and University Hospital D\u00fcsseldorf, Heinrich-Heine-University D\u00fcsseldorf 40225, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frances","family":"Elmslie","sequence":"additional","affiliation":[{"name":"South West Thames Regional Genetics Service, St. George's Healthcare NHS Trust, London SW17 0QT, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0332-234X","authenticated-orcid":false,"given":"Ziv","family":"Gan-Or","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, McGill University, Montreal, QC H4A 3J1, Canada"},{"name":"Montr\u00e9al Neurological Institute and Hospital, McGill University, Montreal, QC H3A 2B4, Canada"},{"name":"Department of Human Genetics, McGill University, Montr\u00e9al, QC H3A 0C7, 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06520, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7770-8398","authenticated-orcid":false,"given":"Dirk J","family":"Lefeber","sequence":"additional","affiliation":[{"name":"Department of Neurology, Translational Metabolic Laboratory, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Centre, Nijmegen 6525 AJ, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0677-0447","authenticated-orcid":false,"given":"Marco","family":"Tartaglia","sequence":"additional","affiliation":[{"name":"Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Ges\u00f9, IRCCS, Rome 00146, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fadi F","family":"Hamdan","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine and University of Montreal, Montreal, QC 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