Primary Brain Calcification Associated with a Novel XPR1 In-Frame Deletion: Clinical Characterization and Insights into Cerebellar and Basal Ganglia Contributions.

Vincenzo Daniele Boccia, Giulietta Maria Riboldi, Xavier Guell

Abstract readCase Reports

In one paragraph

Article in Cerebellum (London, England), 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it

0cells of the map it votes in

0citing papers in PubMed

–field-weighted citation impact

1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

3 authors.

Vincenzo Daniele BocciaThe Marlene and Paolo Fresco Institute for Parkinson's and Movement Disorders, Department of Neurology, New York University Grossman School of Medicine, New York, USA. vincenzodaniele.boccia@edu.unige.it.

Giulietta Maria RiboldiThe Marlene and Paolo Fresco Institute for Parkinson's and Movement Disorders, Department of Neurology, New York University Grossman School of Medicine, New York, USA.

Xavier GuellThe Marlene and Paolo Fresco Institute for Parkinson's and Movement Disorders, Department of Neurology, New York University Grossman School of Medicine, New York, USA. xavier.guellparadis@nyulangone.org.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

A 43-year-old woman was found to have prominent cerebellar and basal ganglia calcifications. History and examination were notable for numerous self-reported neuropsychiatric symptoms and slight abnormalities in cognitive and motor testing. Genetic testing revealed a novel likely pathogenic variant in the XPR1 gene, that represents the first heterozygous in-frame deletion likely associated with primary brain calcifications. The first objective of this report is to describe this novel variant and its associated phenotype. The second objective is to interpret the patient's symptoms and imaging abnormalities in relation to current knowledge in systems neuroscience and theoretical neurology of the basal ganglia and cerebellum.

Indexed as

Basal GangliaCalcinosisCerebellumAdultFemaleHumansXenotropic and Polytropic Retrovirus ReceptorXenotropic and Polytropic Retrovirus ReceptorXPR1 protein, humanBasal gangliaCerebellumFahr’s diseasePrimary familial brain calcificationXPR1

Identifiers

PMID42315705

DOI10.7554/eLife.91483.3

What Socratic holds

Textmetadata

Read underepoch 390

Registered trials

None linked

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.