{"entity": "journal", "iuid": "a1bd556bfda84dbeb255b45c908653da", "timestamp": "2026-08-23T10:13:19.790Z", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/journal/Neurol%20Neurochir%20Pol.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/journal/Neurol%20Neurochir%20Pol"}}, "title": "Neurol Neurochir Pol", "issn": "0028-3843", "issn-l": null, "publications_count": 1, "publications": [{"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"}], "created": "2026-08-20T13:47:54.766Z", "modified": "2026-08-20T13:47:54.766Z"}