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The Association between Intracranial Calcifications and Symptoms in Patients with Primary Familial Brain
Gini Mathijssen1, Evelien van Valen1, Pim A de Jong2
1Department of Geriatrics, University Medical Center Utrecht, Utrecht University, Heidelberglaan 100, 3584 CX Utrecht, The Netherlands.
Journal of Clinical Medicine
|February 10, 2024
Summary
Primary Familial Brain Calcification (PFBC) is linked to motor and cognitive issues. Increased brain calcification severity correlates with movement disorders and cognitive decline in patients with this rare neurodegenerative disease.
Area of Science:
- Neuroscience
- Genetics
- Radiology
Background:
- Primary Familial Brain Calcification (PFBC) is a rare neurodegenerative disorder.
- Characterized by intracranial calcifications, particularly in the basal ganglia.
- Often presents with motor dysfunction and cognitive impairments.
Purpose of the Study:
- To investigate the relationship between the extent and location of brain calcifications and clinical symptoms in PFBC patients.
- To determine the association between Total Calcification Score (TCS) and specific motor and cognitive deficits.
Main Methods:
- Retrospective analysis of 50 patients with suspected PFBC.
- Computed Tomography (CT) scans used to visualize and quantify intracranial calcifications.
- Logistic and linear regression models applied to assess symptom associations.
Main Results:
- 82% of patients exhibited symptoms, with 78.8% showing motor dysfunction and 70.7% cognitive disorders.
- Total Calcification Score (TCS) significantly associated with bradykinesia, gait ataxia, fall risk, and attention deficits.
- Calcifications in the lentiform nucleus and subcortical white matter linked to motor and cognitive impairments.
Conclusions:
- Motor and cognitive symptoms are prevalent in Primary Familial Brain Calcification.
- A significant association exists between the burden of intracranial calcifications and both motor and cognitive symptoms in PFBC.
