{"entity": "researcher", "timestamp": "2026-08-23T09:24:57.507Z", "family": "Ilinca", "given": "Andreea", "initials": "A", "orcid": "0000-0003-1979-5459", "affiliations": ["Division of Neurology, Department for Clinical Sciences, Lund University, Lund, Sweden. andreea.ilinca@med.lu.se.", "Department of Neurology, Sk\u00e5ne University Hospital, Malm\u00f6, Sweden. andreea.ilinca@med.lu.se."], "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/researcher/a9f25e52cdb946fdb458f9ccc05e5d4e.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/researcher/a9f25e52cdb946fdb458f9ccc05e5d4e"}}, "publications": [{"entity": "publication", "iuid": "f46bda2eb2064c39839aa713a3a3d421", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/f46bda2eb2064c39839aa713a3a3d421.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/f46bda2eb2064c39839aa713a3a3d421"}}, "title": "Genetic background of neurological disorders with basal ganglia calcification.", "authors": [{"family": "Yektay Farahmand", "given": "Maha", "initials": "M"}, {"family": "Wallenius", "given": "Joel", "initials": "J"}, {"family": "Wasselius", "given": "Johan", "initials": "J"}, {"family": "Gr\u00e5hamn", "given": "Olof", "initials": "O"}, {"family": "Puschmann", "given": "Andreas", "initials": "A"}, {"family": "Ilinca", "given": "Andreea", "initials": "A", "orcid": "0000-0003-1979-5459", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a9f25e52cdb946fdb458f9ccc05e5d4e.json"}}], "type": "journal article", "published": "2025-09-14", "journal": {"title": "J Neurol", "issn": "1432-1459", "volume": "272", "issue": "9", "pages": "632", "issn-l": null}, "abstract": "Bilateral basal ganglia calcifications (BGCs), if severe, are known hallmarks for idiopathic BGC disease (IBGC), but if milder, are often considered radiological findings of unknown significance. In previous studies, only a minority of patients with BGC had monogenic forms of IBGC.\n\nWe studied consecutive patients from a tertiary neurology clinic with bilateral BGCs of variable severity, and their families. We analyzed known IBGC genes, and an extended panel of genes linked to monogenic stroke and metabolic conditions. Clinical, radiological, and genetic data were collected, including vascular risk factors, cerebrovascular events, imaging findings (total calcification score, white matter hyperintensities, ischemic/hemorrhagic lesions), and relevant family history.\n\nTwenty-four families with BGCs and neurological symptoms were analyzed. Disease-causing variants were identified in 14 families (58.3%). Eight patients had IBGC (variants in SLC20A2, PDGFB, MYORG), 4 had mitochondrial disease (MT-TL1), and 2 had monogenic vascular conditions (GAL, MAP3K6). Three variants were novel. BGC severity was highest in IBGC cases, while vascular and mitochondrial cases had milder calcifications. White matter hyperintensities were seen in 94.7% of cases and correlated highly with the total calcification score. Clinical vascular events had occurred in 41.7% cases. No monogenic cause was found in 10 patients, although many of these showed clinical or radiological features suggestive of monogenic disease.\n\nBilateral BGCs can occur in many neurogenetic disorders apart from IBGCs, and a broader genetic search increases the diagnostic yield. Patients with BGCs frequently had clinical cerebrovascular events, which emphasizes the role of cerebrovascular pathology in BGCs.", "doi": "10.1007/s00415-025-13344-1", "pmid": "40947452", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC12433921"}, {"db": "pii", "key": "10.1007/s00415-025-13344-1"}], "notes": [], "created": "2026-08-21T11:06:43.682Z", "modified": "2026-08-21T11:06:43.758Z"}, {"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": "e9e1c35dc99b489cbc43f26ee0c219ba", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/e9e1c35dc99b489cbc43f26ee0c219ba.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/e9e1c35dc99b489cbc43f26ee0c219ba"}}, "title": "Small vessel disease in primary familial brain calcification with novel truncating PDGFB variants.", "authors": [{"family": "Yektay Farahmand", "given": "Maha", "initials": "M"}, {"family": "Wasselius", "given": "Johan", "initials": "J"}, {"family": "Englund", "given": "Elisabet", "initials": "E"}, {"family": "Braverman", "given": "Irwin", "initials": "I"}, {"family": "Puschmann", "given": "Andreas", "initials": "A"}, {"family": "Ilinca", "given": "Andreea", "initials": "A", "orcid": "0000-0003-1979-5459", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a9f25e52cdb946fdb458f9ccc05e5d4e.json"}}], "type": "journal article", "published": "2023-12-29", "journal": {"title": "Neurol Neurochir Pol", "issn": "0028-3843", "volume": "58", "issue": "1", "pages": "94-105", "issn-l": null}, "abstract": "Primary familial brain calcification (PFBC) is a neurodegenerative disease characterised by bilateral calcification in the brain, especially in the basal ganglia, leading to neurological and neuropsychiatric manifestations. White matter hyperintensities (WMH) have been described in patients with PFBC and pathogenic variants in the gene for platelet-derived growth factor beta polypeptide (PDGFB), suggesting a manifest cerebrovascular process. We present below the cases of two PFBC families with PDGFB variants and stroke or transient ischaemic attack (TIA) episodes. We examine the possible correlation between PFBC and vascular events as stroke/TIA, and evaluate whether signs for vascular disease in this condition are systemic or limited to the cerebral vessels.\n\nTwo Swedish families with novel truncating PDGFB variants, p.Gln140* and p.Arg191*, are described clinically and radiologically. Subcutaneous capillary vessels in affected and unaffected family members were examined by light and electron microscopy.\n\nAll mutation carriers showed WMH and bilateral brain calcifications. The clinical presentations differed, with movement disorder symptoms dominating in family A, and psychiatric symptoms in family B. However, affected members of both families had stroke, TIA, and/or asymptomatic intracerebral ischaemic lesions. Only one of the patients had classical vascular risk factors. Skin microvasculature was normal.\n\nPatients with these PDGFB variants develop microvascular changes in the brain, but not the skin. PDGFB-related small vessel disease can manifest radiologically as cerebral haemorrhage or ischaemia, and may explain TIA or stroke in patients without other vascular risk factors.", "doi": "10.5603/pjnns.97716", "pmid": "38156729", "labels": [], "xrefs": [{"db": "pii", "key": "VM/OJS/J/97716"}], "notes": [], "created": "2026-08-20T13:47:54.716Z", "modified": "2026-08-20T13:47:54.807Z"}]}