ArticleAnnals of clinical and translational neurology2025
Skin calcium deposits in primary familial brain calcification: A novel potential biomarker.
Article in Annals of clinical and translational neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
4 citing papers in PubMed.
- Cerebellar and brainstem MRI alterations in primary brain calcification.Neuroradiology · 2026Article
- White Matter Matters: A Magnetic Resonance Imaging Study with Clinical Correlates in Primary Brain Calcification.Movement disorders : official journal of the Movement Disorder Society · 2026Article
- Intracranial calcifications in congenital viral infections: mechanisms and cellular roles.Current opinion in virology · 2025Review
- Understanding brain calcification via N-terminal acetylation at the Golgi apparatus.Brain : a journal of neurology · 2025Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivePrimary Familial Brain Calcification (PFBC) is a rare neurodegenerative disorder characterized by small vessel calcifications in the basal ganglia. PFBC is caused by pathogenic variants in different genes and its physiopathology is still largely unknown. Skin vascular calcifications have been detected in single PFBC cases, suggesting that calcium deposition may not be limited to the brain, but it is unknown whether this is a hallmark of all PFBC genetic and clinical subtypes. This work aims at assessing anatomical and subcellular localization of calcium-phosphate deposits in skin biopsies from PFBC patients to ascertain the accuracy of histological calcium staining in differentiating PFBC from healthy controls (HC) and Parkinson's Disease (PD).
methodsHistopathology and light microscopy of skin biopsy from 20 PFBC, 7 HC and 10 PD subjects (3 mm ø-5 mm deep punch biopsies, Hematoxylin-Eosin and vonKossa staining, immunoperoxidase CD31 staining); clinical, genetic and radiological assessment.
resultsUnlike HC and PD subjects, the majority of PFBC patients (17/20) showed a consistent pattern of granular argyrophilic calcium-phosphate deposits in the basal lamina and the cytoplasm of CD31+ endothelial cells and pericytes of dermal capillaries, and the basement membrane of sweat glands. This pattern was unrelated to the underlying mutated gene or clinical status.
interpretationSkin biopsy may be a novel PFBC diagnostic tool and a potential biomarker for future therapies, and a tool to investigate PFBC disease mechanisms. Different findings in some patients could be due to skin sampling variability and biological consequences of specific PFBC gene variants.
Indexed as
Identifiers
What Socratic holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.