Evidence map›Paper›PMID 42584815›Full record

ArticleCerebellum (London, England)2026

Multimodal PET Findings in MYORG-Related Primary familial Brain Calcification Caused by a Novel Homozygous Frameshift Mutation.

Haifeng Hou, Shouhong Zhang, Suyang Han

Abstract readCase Reports
PubMed Publisher
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.

Haifeng HouDepartment of Nuclear Medicine, the Second Affiliated Hospital, Zhejiang University School of Medicine, No. 88, Jiefang Road, Shangcheng District, Hangzhou, Zhejiang Province, 310009, China. hhou@zju.edu.cn.ORCID https://orcid.org/0000-0003-0516-6467
Shouhong ZhangDepartment of Nuclear Medicine, the Second Affiliated Hospital, Zhejiang University School of Medicine, No. 88, Jiefang Road, Shangcheng District, Hangzhou, Zhejiang Province, 310009, China.
Suyang Han *Department of Nuclear Medicine, Hangzhou Cancer Hospital, Hangzhou, China.

Funding

the National Natural Science Foundation of China No. 81301243the Zhejiang Medical Health Science and Technology Project No. 2022KY796 and 2023KY773
6 · The paper itself

Abstract

Primary familial brain calcification (PFBC) is a rare inherited neurological disorder characterized by bilateral intracranial calcifications and heterogeneous clinical manifestations. MYORG-related PFBC is a recently identified autosomal recessive subtype; however, its metabolic abnormalities and dopaminergic function remain incompletely characterized. We report a 45-year-old man with progressive parkinsonism, dysarthria, and a history of recurrent limb twitching. Genetic analysis identified a novel homozygous frameshift variant in MYORG (c.348_352dup, p.Gly118AlafsTer76), confirming the diagnosis of MYORG-related PFBC. Multimodal positron emission tomography (PET), including fluorine-18 fluorodeoxyglucose (

Indexed as

BrainBrain DiseasesCalcinosisFrameshift MutationFluorodeoxyglucose F18Glycoside HydrolasesHomozygoteHumansMaleMiddle AgedMultimodal ImagingPositron-Emission TomographyFluorodeoxyglucose F18Glycoside HydrolasesMYORG protein, human18F-FDG18F-FP-CITMultimodal PET imagingMYORG mutationPrimary familial brain calcification

Identifiers

PMID42584815

What OpenQuestion holds

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Registered trials

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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.