Evidence map›Paper›PMID 30895394›Full record

ArticleNeurogenetics2019

Primary familial brain calcification caused by a novel homozygous MYORG mutation in a consanguineous Italian family.

Eliana Marisa Ramos, Alessandro Roca, Noravit Chumchim, Deepika Reddy Dokuru, Victoria Van Berlo, Giovanna De Michele, Maria Lieto, Enrico Tedeschi, Giuseppe De Michele, Giovanni Coppola

Abstract readCase Reports
PubMed Publisher
In one paragraph

Article in Neurogenetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
3.1field-weighted citation impact, top 9% of its field
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

8 citing papers in PubMed, 18 citations in OpenAlex.

  1. Review
  2. The Genetics of Primary Familial Brain Calcification: A Literature Review.International journal of molecular sciences · 2023
    Review
  3. Article
  4. Article
  5. Mutation Analysis ofFrontiers in genetics · 2021
    Article
  6. Article
  7. Basal ganglia calcifications (Fahr's syndrome): related conditions and clinical features.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2019
    Review
  8. Review
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

10 authors at 2 institutions in 2 countries.

Eliana Marisa RamosDepartment of Psychiatry, David Geffen School of Medicine, University of California Los Angeles, 695 Charles E. Young Drive South, #3506C Gonda Neuroscience and Genetics Research Center, Los Angeles, CA, 90095, USA.
Alessandro RocaDepartment of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.
Noravit ChumchimDepartment of Psychiatry, David Geffen School of Medicine, University of California Los Angeles, 695 Charles E. Young Drive South, #3506C Gonda Neuroscience and Genetics Research Center, Los Angeles, CA, 90095, USA.
Deepika Reddy DokuruDepartment of Psychiatry, David Geffen School of Medicine, University of California Los Angeles, 695 Charles E. Young Drive South, #3506C Gonda Neuroscience and Genetics Research Center, Los Angeles, CA, 90095, USA.
Victoria Van BerloDepartment of Psychiatry, David Geffen School of Medicine, University of California Los Angeles, 695 Charles E. Young Drive South, #3506C Gonda Neuroscience and Genetics Research Center, Los Angeles, CA, 90095, USA.
Giovanna De MicheleDepartment of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.
Maria LietoDepartment of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.
Enrico TedeschiDepartment of Advanced Biomedical Sciences, Federico II University, Naples, Italy.
Giuseppe De MicheleDepartment of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.
Giovanni CoppolaDepartment of Psychiatry, David Geffen School of Medicine, University of California Los Angeles, 695 Charles E. Young Drive South, #3506C Gonda Neuroscience and Genetics Research Center, Los Angeles, CA, 90095, USA. gcoppola@ucla.edu.
Federico II University Hospital · ITUniversity of California, Los Angeles · US

Funding

Integrative Center for Neurogenetics and Neurogenomics - OverallP30NS062691 · NINDS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI ESKIN, ELEAZAR · 2009 to 2018
$7.4M
NINDS Informatics Center for Neurogenetics and Neurogenomics P30 NS062691
6 · The paper itself

Abstract

Primary familial brain calcification (PFBC) is a rare disorder mostly characterized by calcium deposits in the basal ganglia and a wide spectrum of neurologic and psychiatric symptoms, typically inherited as an autosomal dominant trait. Recently, MYORG was reported as the first autosomal recessive causal gene in PFBC patients of Chinese and Middle Eastern origin. Herein, we describe the first PFBC patient of European descent found to carry a novel homozygous MYORG mutation (p.N511Tfs*243). Interestingly, the patient's father, a heterozygous carrier of the same mutation, showed diffuse bilateral cerebral calcifications with no symptoms other than very mild postural tremor.

Indexed as

HomozygoteAdultBrain DiseasesCalcinosisConsanguinityDysarthriaFamily HealthGaitGenetic TestingGlycoside HydrolasesHeterozygoteHumansItalyMaleMutationNervous System MalformationsGlycoside HydrolasesMYORG protein, humanHomozygousMYORGPrimary familial brain calcificationRecessive

Identifiers

PMID30895394
OpenAlexW2922932216

What OpenQuestion holds

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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.