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New Insights into Brain Calcification
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New Insights into Brain Calcification

A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Clinical Neurology".

Deadline for manuscript submissions: 31 August 2024 | Viewed by 1298

Special Issue Editors

Dr. Huiberdina Lena Koek

E-Mail Website
Guest Editor
Department of Geriatric Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands
Interests: cerebral small vessel disease; Fahr disease; primary familial brain calcification; cognition; mobility; neuroimaging
Dr. Miryam Carecchio

E-Mail Website
Guest Editor
Department of Neuroscience, University of Padua, Padua, Italy
Interests: clinical and genetic aspects of PFBC

Special Issue Information

Dear Colleagues,

Vascular calcification is a highly prevalent problem associated with aging, chronic kidney disease, diabetes mellitus and cognitive decline. The clinical presentation of vascular calcification depends on the localization of the calcific deposits. When localized in the brain, vascular calcification is associated with common diseases like dementia and also rare diseases like primary familial brain calcification (PFBC). In PFBC, calcification occurs in the basal ganglia and patients develop symptoms consisting of cognitive impairment, movement disorders and neuropsychiatric problems. Although the disease burden of vascular calcification is significant, a large knowledge gap exists, as the molecular pathogenesis is still poorly understood, and no causal treatment is available. The aim of this Special Issue is to provide original research and systematic review papers regarding important current insights and advances in the pathophysiology, diagnosis, management and prognosis of vascular calcification of the brain. While the editors welcome all submissions related to vascular calcification of the brain, they will consider submissions on PFBC with particular interest. We particularly encourage researchers in the field of neurology, geriatric medicine, radiology, genetics and pre-clinical research to submit their manuscripts for this Special Issue. We look forward to receiving your contributions.

Dr. Huiberdina Lena Koek
Dr. Miryam Carecchio
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Journal of Clinical Medicine is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • vascular calcification
  • Fahr disease
  • primary familial brain calcification
  • neuroimaging
 

Published Papers (1 paper)

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Research

14 pages, 636 KiB  
Article
The Association between Intracranial Calcifications and Symptoms in Patients with Primary Familial Brain Calcification
by 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 and Huiberdina L. Koek
J. Clin. Med. 2024, 13(3), 828; https://doi.org/10.3390/jcm13030828 - 31 Jan 2024
Cited by 1 | Viewed by 1099
Abstract
(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 [...] Read more.
(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, p < 0.01), gait ataxia (OR 1.06, 95%-CI 1.00–1.12, p = 0.04), increased fall risk (OR 1.04, 95%-CI 1.00–1.08, p = 0.03), and attention/processing speed disorders (OR 1.06, 95%-CI 1.01–1.12, 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. Full article
(This article belongs to the Special Issue New Insights into Brain Calcification)
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