Evidence map›Paper›PMID 41311457›Full record

ArticleRare (Amsterdam, Netherlands)2025

Leukoencephalopathy, brain calcifications, and cysts (LCC): Two unique cases.

Julia Grafstein, Yuka Aoyama, Rena Godfrey, Colleen Howe, Joshi Stephen, May Christine Malicdan, William A Gahl, Camilo Toro

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Rare (Amsterdam, Netherlands), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Article
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

8 authors.

Julia GrafsteinUndiagnosed Diseases Program, National Institutes of Health, 10 Center Dr, Bethesda, MD 20892, United States.ORCID 0009-0002-1256-2919
Yuka AoyamaUndiagnosed Diseases Program, National Institutes of Health, 10 Center Dr, Bethesda, MD 20892, United States.
Rena GodfreyUndiagnosed Diseases Program, National Institutes of Health, 10 Center Dr, Bethesda, MD 20892, United States.
Colleen HoweUndiagnosed Diseases Program, National Institutes of Health, 10 Center Dr, Bethesda, MD 20892, United States.
Joshi StephenHuman Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Dr, Bethesda, MD 20892, United States.
May Christine MalicdanHuman Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Dr, Bethesda, MD 20892, United States.ORCID 0000-0003-1697-6959
William A GahlUndiagnosed Diseases Program, National Institutes of Health, 10 Center Dr, Bethesda, MD 20892, United States.
Camilo ToroUndiagnosed Diseases Program, National Institutes of Health, 10 Center Dr, Bethesda, MD 20892, United States.ORCID 0000-0002-3917-9031

Funding

C BRIGGSAE AND C ELEGANS GENOMIC SEQUENCE COMPARISONF32HG000130 · NHGRI · WASHINGTON UNIVERSITY · PI COUCH, JENNIFER A · 1994 to 1995
–
Intramural NIH HHS Z99 HG999999NHGRI NIH HHS F32 HG000130
6 · The paper itself

Abstract

Leukoencephalopathy with brain calcifications and cysts (LCC), also known as Labrune Syndrome, is a rare cerebral microangiopathy caused by biallelic variants in the

Indexed as

CalcificationsCystsLabrune SyndromeLCCLeukoencephalopathySNORD118

Identifiers

PMID41311457
PMCPMC12652697

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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 OpenQuestion graph.