The Association between Intracranial Calcifications and Symptoms in Patients with Primary Familial Brain Calcification
(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 investi...
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| Format: | Article |
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MDPI AG
2024-01-01
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| Series: | Journal of Clinical Medicine |
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| author | Gini Mathijssen Evelien van Valen Pim A. de Jong Nienke M. S. Golüke Emiel A. van Maren Birgitta M. G. Snijders Eva H. Brilstra Ynte M. Ruigrok Susan Bakker Renzo W. Goto Marielle H. Emmelot-Vonk Huiberdina L. Koek |
| author_facet | Gini Mathijssen Evelien van Valen Pim A. de Jong Nienke M. S. Golüke Emiel A. van Maren Birgitta M. G. Snijders Eva H. Brilstra Ynte M. Ruigrok Susan Bakker Renzo W. Goto Marielle H. Emmelot-Vonk Huiberdina L. Koek |
| author_sort | Gini Mathijssen |
| collection | DOAJ |
| description | (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 1.02–1.12, <i>p</i> < 0.01), gait ataxia (OR 1.06, 95%-CI 1.00–1.12, <i>p</i> = 0.04), increased fall risk (OR 1.04, 95%-CI 1.00–1.08, <i>p</i> = 0.03), and attention/processing speed disorders (OR 1.06, 95%-CI 1.01–1.12, <i>p</i> = 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. |
| first_indexed | 2024-03-08T03:54:11Z |
| format | Article |
| id | doaj.art-ea7804c6acda4871b522ba465ca32c62 |
| institution | Directory Open Access Journal |
| issn | 2077-0383 |
| language | English |
| last_indexed | 2024-03-08T03:54:11Z |
| publishDate | 2024-01-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Journal of Clinical Medicine |
| spelling | doaj.art-ea7804c6acda4871b522ba465ca32c622024-02-09T15:16:18ZengMDPI AGJournal of Clinical Medicine2077-03832024-01-0113382810.3390/jcm13030828The Association between Intracranial Calcifications and Symptoms in Patients with Primary Familial Brain CalcificationGini Mathijssen0Evelien van Valen1Pim A. de Jong2Nienke M. S. Golüke3Emiel A. van Maren4Birgitta M. G. Snijders5Eva H. Brilstra6Ynte M. Ruigrok7Susan Bakker8Renzo W. Goto9Marielle H. Emmelot-Vonk10Huiberdina L. Koek11Department of Geriatrics, University Medical Center Utrecht, Utrecht University, Heidelberglaan 100, 3584 CX Utrecht, The NetherlandsDepartment of Geriatrics, University Medical Center Utrecht, Utrecht University, Heidelberglaan 100, 3584 CX Utrecht, The NetherlandsDepartment of Radiology, University Medical Center Utrecht, Utrecht University, Heidelberglaan 100, 3584 CX Utrecht, The NetherlandsDepartment of Geriatrics, University Medical Center Utrecht, Utrecht University, Heidelberglaan 100, 3584 CX Utrecht, The NetherlandsDepartment of Radiology, University Medical Center Utrecht, Utrecht University, Heidelberglaan 100, 3584 CX Utrecht, The NetherlandsDepartment of Geriatrics, University Medical Center Utrecht, Utrecht University, Heidelberglaan 100, 3584 CX Utrecht, The NetherlandsDepartment of Genetics, University Medical Center Utrecht, Utrecht University, Heidelberglaan 100, 3584 CX Utrecht, The NetherlandsDepartment of Neurology and Neurosurgery, University Medical Center Utrecht, Heidelberglaan 100, Utrecht University, 3584 CX Utrecht, The NetherlandsDepartment of Rehabilitation, Physical Therapy Science & Sports, University Medical Center Utrecht, Utrecht University, Heidelberglaan 100, 3584 CX Utrecht, The NetherlandsDepartment of Geriatrics, University Medical Center Utrecht, Utrecht University, Heidelberglaan 100, 3584 CX Utrecht, The NetherlandsDepartment of Geriatrics, University Medical Center Utrecht, Utrecht University, Heidelberglaan 100, 3584 CX Utrecht, The NetherlandsDepartment of Geriatrics, University Medical Center Utrecht, Utrecht University, Heidelberglaan 100, 3584 CX Utrecht, The Netherlands(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 1.02–1.12, <i>p</i> < 0.01), gait ataxia (OR 1.06, 95%-CI 1.00–1.12, <i>p</i> = 0.04), increased fall risk (OR 1.04, 95%-CI 1.00–1.08, <i>p</i> = 0.03), and attention/processing speed disorders (OR 1.06, 95%-CI 1.01–1.12, <i>p</i> = 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.https://www.mdpi.com/2077-0383/13/3/828primary familial brain calcificationPFBCFahr’s diseasetotal calcification scorecognitive disordersmotor dysfunction |
| spellingShingle | Gini Mathijssen Evelien van Valen Pim A. de Jong Nienke M. S. Golüke Emiel A. van Maren Birgitta M. G. Snijders Eva H. Brilstra Ynte M. Ruigrok Susan Bakker Renzo W. Goto Marielle H. Emmelot-Vonk Huiberdina L. Koek The Association between Intracranial Calcifications and Symptoms in Patients with Primary Familial Brain Calcification Journal of Clinical Medicine primary familial brain calcification PFBC Fahr’s disease total calcification score cognitive disorders motor dysfunction |
| title | The Association between Intracranial Calcifications and Symptoms in Patients with Primary Familial Brain Calcification |
| title_full | The Association between Intracranial Calcifications and Symptoms in Patients with Primary Familial Brain Calcification |
| title_fullStr | The Association between Intracranial Calcifications and Symptoms in Patients with Primary Familial Brain Calcification |
| title_full_unstemmed | The Association between Intracranial Calcifications and Symptoms in Patients with Primary Familial Brain Calcification |
| title_short | The Association between Intracranial Calcifications and Symptoms in Patients with Primary Familial Brain Calcification |
| title_sort | association between intracranial calcifications and symptoms in patients with primary familial brain calcification |
| topic | primary familial brain calcification PFBC Fahr’s disease total calcification score cognitive disorders motor dysfunction |
| url | https://www.mdpi.com/2077-0383/13/3/828 |
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