{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T08:45:16Z","timestamp":1790930716570,"version":"4.1.0"},"reference-count":58,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2024,1,31]],"date-time":"2024-01-31T00:00:00Z","timestamp":1706659200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>(1) Background: Primary Familial Brain Calcification (PFBC) is a neurodegenerative disease characterized by bilateral calcifications of the basal ganglia and other intracranial areas. Many patients experience symptoms of motor dysfunction and cognitive disorders. The aim of this study was to investigate the association between the amount and location of intracranial calcifications with these symptoms. (2) Methods: Patients with suspected PFBC referred to our outpatient clinic underwent a clinical work-up. Intracranial calcifications were visualized on Computed Tomography (CT), and a Total Calcification Score (TCS) was constructed. Logistic and linear regression models were performed. (3) Results: Fifty patients with PFBC were included in this study (median age 64.0 years, 50% women). Of the forty-one symptomatic patients (82.0%), 78.8% showed motor dysfunction, and 70.7% showed cognitive disorders. In multivariate analysis, the TCS was associated with bradykinesia\/hypokinesia (OR 1.07, 95%-CI 1.02\u20131.12, p &lt; 0.01), gait ataxia (OR 1.06, 95%-CI 1.00\u20131.12, p = 0.04), increased fall risk (OR 1.04, 95%-CI 1.00\u20131.08, p = 0.03), and attention\/processing speed disorders (OR 1.06, 95%-CI 1.01\u20131.12, p = 0.02). Calcifications of the lentiform nucleus and subcortical white matter were associated with motor and cognitive disorders. (4) Conclusions: cognitive and motor symptoms are common among patients with PFBC, and there is an association between intracranial calcifications and these symptoms.<\/jats:p>","DOI":"10.3390\/jcm13030828","type":"journal-article","created":{"date-parts":[[2024,1,31]],"date-time":"2024-01-31T10:44:24Z","timestamp":1706697864000},"page":"828","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["The Association between Intracranial Calcifications and Symptoms in Patients with Primary Familial Brain Calcification"],"prefix":"10.3390","volume":"13","author":[{"given":"Gini","family":"Mathijssen","sequence":"first","affiliation":[{"name":"Department of Geriatrics, University Medical Center Utrecht, Utrecht University, Heidelberglaan 100, 3584 CX Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evelien","family":"van Valen","sequence":"additional","affiliation":[{"name":"Department of Geriatrics, University Medical Center Utrecht, Utrecht University, Heidelberglaan 100, 3584 CX Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pim A.","family":"de Jong","sequence":"additional","affiliation":[{"name":"Department of Radiology, University Medical Center Utrecht, Utrecht University, Heidelberglaan 100, 3584 CX Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nienke M. S.","family":"Gol\u00fcke","sequence":"additional","affiliation":[{"name":"Department of Geriatrics, University Medical Center Utrecht, Utrecht University, Heidelberglaan 100, 3584 CX Utrecht, The Netherlands"},{"name":"Department of Geriatrics, Hospital Gelderse Vallei, Willy Brandtlaan 10, 6716 RP Ede, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emiel A.","family":"van Maren","sequence":"additional","affiliation":[{"name":"Department of Radiology, University Medical Center Utrecht, Utrecht University, Heidelberglaan 100, 3584 CX Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3605-2289","authenticated-orcid":false,"given":"Birgitta M. G.","family":"Snijders","sequence":"additional","affiliation":[{"name":"Department of Geriatrics, University Medical Center Utrecht, Utrecht University, Heidelberglaan 100, 3584 CX Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva H.","family":"Brilstra","sequence":"additional","affiliation":[{"name":"Department of Genetics, University Medical Center Utrecht, Utrecht University, Heidelberglaan 100, 3584 CX Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5396-2989","authenticated-orcid":false,"given":"Ynte M.","family":"Ruigrok","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, University Medical Center Utrecht, Heidelberglaan 100, Utrecht University, 3584 CX Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan","family":"Bakker","sequence":"additional","affiliation":[{"name":"Department of Rehabilitation, Physical Therapy Science & Sports, University Medical Center Utrecht, Utrecht University, Heidelberglaan 100, 3584 CX Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renzo W.","family":"Goto","sequence":"additional","affiliation":[{"name":"Department of Geriatrics, University Medical Center Utrecht, Utrecht University, Heidelberglaan 100, 3584 CX Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marielle H.","family":"Emmelot-Vonk","sequence":"additional","affiliation":[{"name":"Department of Geriatrics, University Medical Center Utrecht, Utrecht University, Heidelberglaan 100, 3584 CX Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0938-6232","authenticated-orcid":false,"given":"Huiberdina L.","family":"Koek","sequence":"additional","affiliation":[{"name":"Department of Geriatrics, University Medical Center Utrecht, Utrecht University, Heidelberglaan 100, 3584 CX Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,1,31]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1016\/j.parkreldis.2004.12.001","article-title":"What Is and What Is Not \u201cFahr\u2019s Disease\u201d","volume":"11","author":"Manyam","year":"2005","journal-title":"Park. 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