{"entity": "researcher", "timestamp": "2026-08-23T09:28:09.943Z", "family": "Puschmann", "given": "Andreas", "initials": "A", "orcid": "0000-0002-3201-8198", "affiliations": ["Lund University, Sk\u00e5ne University Hospital, Neurology, Lund, Sweden.", "SciLifeLab, Lund University, Lund, Sweden."], "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/researcher/2735e482b8c54ad18ce11087954c8380.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/researcher/2735e482b8c54ad18ce11087954c8380"}}, "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": "584d68fdb14a4370a02326ebfc7361d4", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/584d68fdb14a4370a02326ebfc7361d4.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/584d68fdb14a4370a02326ebfc7361d4"}}, "title": "Maculopathy and adult-onset ataxia in patients with biallelic MFSD8 variants.", "authors": [{"family": "Dobloug", "given": "Sigurd", "initials": "S"}, {"family": "Kjellstr\u00f6m", "given": "Ulrika", "initials": "U", "orcid": "0000-0002-7316-4976", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/4c143215d2714cc6ba33961b19d8b1e3.json"}}, {"family": "Anderson", "given": "Glenn", "initials": "G"}, {"family": "Gardner", "given": "Emily", "initials": "E", "orcid": "0000-0002-1265-2298", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b60c62ff45db4df687de9d5cf8c8216e.json"}}, {"family": "Mole", "given": "Sara E", "initials": "SE", "orcid": "0000-0003-4385-4957", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/18447b99b6ac44f4884f210d2795c521.json"}}, {"family": "Sheth", "given": "Jayesh", "initials": "J"}, {"family": "Puschmann", "given": "Andreas", "initials": "A", "orcid": "0000-0002-3201-8198", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2735e482b8c54ad18ce11087954c8380.json"}}], "type": "journal article", "published": "2024-08-00", "journal": {"title": "Mol Genet Genomic Med", "issn": "2324-9269", "volume": "12", "issue": "8", "pages": "e2505", "issn-l": null}, "abstract": "Biallelic variants in the major facilitator superfamily domain containing 8 gene (MFSD8) are associated with distinct clinical presentations that range from typical late-infantile neuronal ceroid lipofuscinosis type 7 (CLN7 disease) to isolated adult-onset retinal dystrophy. Classic late-infantile CLN7 disease is a severe, rare neurological disorder with an age of onset typically between 2 and 6 years, presenting with seizures and/or cognitive regression. Its clinical course is progressive, leading to premature death, and often includes visual loss due to severe retinal dystrophy. In rare cases, pathogenic variants in MFSD8 can be associated with isolated non-syndromic macular dystrophy with variable age at onset, in which the disease process predominantly or exclusively affects the cones of the macula and where there are no neurological or neuropsychiatric manifestations.\n\nHere we present longitudinal studies on four adult-onset patients who were biallelic for four MFSD8 variants.\n\nTwo unrelated patients who presented with adult-onset ataxia and had macular dystrophy on examination were homozygous for a novel variant in MFSD8 NM_152778.4: c.935T>C p.(Ile312Thr). Two other patients presented in adulthood with visual symptoms, and one of these developed mild to moderate cerebellar ataxia years after the onset of visual symptoms.\n\nOur observations expand the knowledge on biallelic pathogenic MFSD8 variants and confirm that these are associated with a spectrum of more heterogeneous clinical phenotypes. In MFSD8-related disease, adult-onset recessive ataxia can be the presenting manifestation or may occur in combination with retinal dystrophy.", "doi": "10.1002/mgg3.2505", "pmid": "39108195", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC11303817"}], "notes": [], "created": "2026-08-20T06:34:28.313Z", "modified": "2026-08-20T06:34:28.534Z"}, {"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"}]}