{"entity": "researcher", "timestamp": "2026-08-23T09:27:44.844Z", "family": "Wallenius", "given": "Joel", "initials": "J", "orcid": "0000-0001-7971-3377", "affiliations": ["Division of Neurology, Department of Clinical Sciences Lund, Lund University, Lund, Sweden.", "Department of Neurology, Sk\u00e5ne University Hospital, Lund, Sweden."], "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/researcher/05e0c8f436b14c288a1e6de757116841.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/researcher/05e0c8f436b14c288a1e6de757116841"}}, "publications": [{"entity": "publication", "iuid": "6401a8d768fe4ab08aab6bb451fbe445", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/6401a8d768fe4ab08aab6bb451fbe445.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/6401a8d768fe4ab08aab6bb451fbe445"}}, "title": "Diagnosing Monogenic Stroke at Younger Age.", "authors": [{"family": "Ilinca", "given": "Andreea", "initials": "A", "orcid": "0000-0003-1979-5459", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a9f25e52cdb946fdb458f9ccc05e5d4e.json"}}, {"family": "Kafantari", "given": "Efthymia", "initials": "E", "orcid": "0009-0007-5863-6561", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/65100c6ebbfd4ef7abc8219b87c66d18.json"}}, {"family": "Wallenius", "given": "Joel", "initials": "J", "orcid": "0000-0001-7971-3377", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/05e0c8f436b14c288a1e6de757116841.json"}}, {"family": "Kristoffersson", "given": "Ulf", "initials": "U", "orcid": "0000-0003-2967-735X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/314467a171644d1583a45b53579a6a4b.json"}}, {"family": "Englund", "given": "Elisabet", "initials": "E", "orcid": "0000-0002-2708-2443", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8d415783747141269a6d9a843afc861d.json"}}, {"family": "Puschmann", "given": "Andreas", "initials": "A", "orcid": "0000-0002-3201-8198", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2735e482b8c54ad18ce11087954c8380.json"}}, {"family": "Lindgren", "given": "Arne G", "initials": "AG", "orcid": "0000-0003-1942-7330", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/6cf937a237e64a5692e606e9413ec804.json"}}], "type": "journal article", "published": "2024-12-00", "journal": {"title": "Stroke", "issn": "1524-4628", "volume": "55", "issue": "12", "pages": "2846-2855", "issn-l": "0039-2499"}, "abstract": "An increasing number of monogenic conditions underlying stroke are being identified. We explored the possibilities of increasing the diagnostic yield of monogenic stroke in a population under 56 years of age.\n\nFifty probands \u226455 years at their first stroke episode were characterized clinically and investigated by whole genome sequencing. Probands had one or more of: (1) one or more first to second degree relatives with stroke under 60 years or same stroke-causing condition/disease; (2) no hypertension, hypercholesterolemia, diabetes, heart disease, or smoking; or (3) either multiple stroke episodes or multiple arterial dissections. Variants with minor allele frequency under 0.01, identified by using our stroke gene panels, were assessed. The stroke subtypes, including large artery atherosclerotic, large artery nonatherosclerotic (tortuosity, dolichoectasia, aneurysm, nonatherosclerotic dissection, or occlusion), cerebral small vessel disease, cardioembolic (arrhythmia, heart defect, or cardiomyopathy), coagulation dysfunctions (venous thrombosis, arterial thrombosis, or bleeding tendency), intracerebral hemorrhage, vascular malformations (cavernoma or arteriovenous malformations), metabolic disorders, or cryptogenic embolic, were used for genotype-phenotype correlation. In a final step, we combined genetic and clinical information to determine if the genetic variant likely was the cause of stroke in the patients.\n\nWhole genome sequencing of younger patients with stroke identified 17 clinically matching genetic variants in 15 of 50 (30%) patients, while a stronger clinical correlation with stroke was established in only 6 (12%) of them. Stroke-related genetic variants were identified in 4 of 5 (80%) patients with cardioembolic stroke subtype, 3 of 4 (75%) with intracerebral hemorrhage, 7 of 18 (39%) with cryptogenic embolic stroke, 1 of 6 (17%) with small vessel disease, and 3 of 15 (20%) of patients with nonatherosclerotic large artery stroke, including 1 of 11 (9%) with cervical dissection stroke.\n\nCareful clinical interpretation of whole genome data using stroke gene panels can detect monogenic causes of early stroke, allowing individualized follow-up and opening new possibilities for potential treatment.", "doi": "10.1161/STROKEAHA.124.048044", "pmid": "39498567", "labels": [], "xrefs": [], "notes": [], "created": "2026-08-21T12:31:32.023Z", "modified": "2026-08-21T12:31:32.255Z"}, {"entity": "publication", "iuid": "9bc322e8b66e4bb7a74df33618f63376", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/9bc322e8b66e4bb7a74df33618f63376.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/9bc322e8b66e4bb7a74df33618f63376"}}, "title": "Is GBA1 T369M not a risk factor for Parkinson's disease in the Swedish population?", "authors": [{"family": "Brolin", "given": "Kajsa Atterling", "initials": "KA", "orcid": "0000-0003-4832-922X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/3df36b6abc6940a297d8096f2bc02ede.json"}}, {"family": "B\u00e4ckstr\u00f6m", "given": "David", "initials": "D", "orcid": "0000-0002-4417-2475", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/89b5cc23e508481c91374f8e68998aef.json"}}, {"family": "Wallenius", "given": "Joel", "initials": "J", "orcid": "0000-0001-7971-3377", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/05e0c8f436b14c288a1e6de757116841.json"}}, {"family": "Gan-Or", "given": "Ziv", "initials": "Z", "orcid": "0000-0003-0332-234X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/053c96cddbe8423db75cc3fa2195f32b.json"}}, {"family": "Puschmann", "given": "Andreas", "initials": "A", "orcid": "0000-0002-3201-8198", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2735e482b8c54ad18ce11087954c8380.json"}}, {"family": "Hansson", "given": "Oskar", "initials": "O", "orcid": "0000-0001-8467-7286", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/9292115deece4d9fafc8a02d4a430707.json"}}, {"family": "Swanberg", "given": "Maria", "initials": "M", "orcid": "0000-0002-1829-1008", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f2b5ac6205ef42799d59d8878df1d4ea.json"}}], "type": "preprint", "published": "2024-03-16", "journal": {"title": "medRxiv", "issn-l": null}, "abstract": "Variants in GBA1 are important genetic risk factors in Parkinson's disease (PD). GBA1 T369M has been linked to an ~80% increased PD risk but the reports are conflicting and the relevance of GBA1 variants in different populations varies. A lack of association between T369M and PD in the Swedish population was recently reported but needs further validation. We therefore investigated T369M in 1,808 PD patients and 2,183 controls and our results support that T369M is not a risk factor for PD in the Swedish population.", "doi": "10.1101/2024.03.15.24304347", "pmid": "38559109", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC10980128"}, {"db": "pii", "key": "2024.03.15.24304347"}], "notes": [], "created": "2026-08-20T10:52:54.496Z", "modified": "2026-08-20T10:52:54.709Z"}]}