Primary Brain Calcification: An International Consensus on Nomenclature, Diagnosis, Evaluation, and Management

Our understanding of primary brain calcification (PBC) has accelerated with the identification of seven causative genes over the past 13 years, vastly expanding knowledge of the molecular underpinnings of this disorder. Despite this progress, a lack of standardized clinical definitions, variable presentations, and heterogeneous calcification patterns has perpetuated inconsistencies in diagnosis and patient care. To address these challenges, an international expert panel undertook a comprehensive process-combining systematic literature review, virtual and in-person expert discussions, and iterative Delphi consensus questionnaires-to develop unified recommendations. These consensus guidelines encompass terminology, diagnostic criteria, neuroimaging protocols, clinical evaluation standards, genetic testing approaches, and management strategies. Notably, PBC is recommended as the clinical standard, with new diagnostic criteria, including the use of a computed tomography-based total calcification score and a three-tiered diagnostic algorithm (possible, probable, definite PBC). A systematic review of 27 symptoms and signs identified 19 as most closely linked with PBC, guiding more focused clinical assessment. Recommendations strongly support comprehensive next-generation sequencing for genetic testing, favoring whole genome over exome or targeted panels to maximize diagnostic yield. Multidisciplinary management priorities are outlined in four key principles centering on individualized care, symptom relief, genetic counseling, and ongoing monitoring. Widespread adoption of these unified guidelines will facilitate consistent diagnosis, enable comparative international data collection, and lay the groundwork for large-scale collaborative research-including future randomized controlled trials of symptomatic and disease-modifying PBC therapies. This consensus fosters clarity and consistency, creating a framework for improved patient care and scientific discovery. © 2025 International Parkinson and Movement Disorder Society.

Authors

Institutions

Publication Details

Journal
Movement Disorders
Published
2025-12-04
DOI
https://doi.org/10.1002/mds.70140
Citations
4
Primary Topic
Thyroid and Parathyroid Surgery
Type
article
Field-Weighted Citation Impact
8.03
Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

Primary Brain Calcification: An International Consensus on Nomenclature, Diagnosis, Evaluation, and Management

Akiyoshi Kakita, João Ricardo Mendes de Oliveira, Ana Westenberger, Christine Klein et al.
4 citations
Movement Disorders
Thyroid and Parathyroid Surgery
8.03
article

Primary Brain Calcification: An International Consensus on Nomenclature, Diagnosis, Evaluation, and Management

Akiyoshi Kakita, João Ricardo Mendes de Oliveira, Ana Westenberger, Christine Klein, Christian Lambert, Annika Keller, Liam Chen, Alexander Balck, Isao Hozumi, Dehao Yang, Zhidong Cen, Wan‐Jin Chen, Xuewen Cheng, Miryam Carecchio, Huiberdina L. Koek, Amit Batla, Zhi‐Qi Xiong, Henry Houlden, Wei Luo, Gaël Nicolas, Francesca Magrinelli, Jing Yu Liu, Kailash P. Bhatia
article en
4 citations

Abstract

Our understanding of primary brain calcification (PBC) has accelerated with the identification of seven causative genes over the past 13 years, vastly expanding knowledge of the molecular underpinnings of this disorder. Despite this progress, a lack of standardized clinical definitions, variable presentations, and heterogeneous calcification patterns has perpetuated inconsistencies in diagnosis and patient care. To address these challenges, an international expert panel undertook a comprehensive process-combining systematic literature review, virtual and in-person expert discussions, and iterative Delphi consensus questionnaires-to develop unified recommendations. These consensus guidelines encompass terminology, diagnostic criteria, neuroimaging protocols, clinical evaluation standards, genetic testing approaches, and management strategies. Notably, PBC is recommended as the clinical standard, with new diagnostic criteria, including the use of a computed tomography-based total calcification score and a three-tiered diagnostic algorithm (possible, probable, definite PBC). A systematic review of 27 symptoms and signs identified 19 as most closely linked with PBC, guiding more focused clinical assessment. Recommendations strongly support comprehensive next-generation sequencing for genetic testing, favoring whole genome over exome or targeted panels to maximize diagnostic yield. Multidisciplinary management priorities are outlined in four key principles centering on individualized care, symptom relief, genetic counseling, and ongoing monitoring. Widespread adoption of these unified guidelines will facilitate consistent diagnosis, enable comparative international data collection, and lay the groundwork for large-scale collaborative research-including future randomized controlled trials of symptomatic and disease-modifying PBC therapies. This consensus fosters clarity and consistency, creating a framework for improved patient care and scientific discovery. © 2025 International Parkinson and Movement Disorder Society.

Movement DisordersVol. 41(2)
Fujian Medical University (CN), University of Minnesota (US), University of Padua (IT), Inserm (FR), Gifu Pharmaceutical University (JP), Chinese Academy of Sciences (CN), University of Zurich (CH), Universidade Federal de Pernambuco (BR), University Medical Center Utrecht (NL), Center for Excellence in Brain Science and Intelligence Technology (CN), University Hospital of Zurich (CH), Normandie Université (FR), University Hospital Schleswig-Holstein (DE), First Affiliated Hospital of Fujian Medical University (CN), University of Minnesota Medical Center (US), National Hospital for Neurology and Neurosurgery (GB), Second Affiliated Hospital of Zhejiang University (CN), University of Chinese Academy of Sciences (CN), University College London (GB), Université de Rouen Normandie (FR), Niigata University (JP), Zhejiang University (CN), University of Lübeck (DE)
Openalex Percentile: Top 2%
Thyroid and Parathyroid Surgery
8.03
DOISourceOpenAlex
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.