Evidence map›Paper›PMID 33134513›Full record

ArticleNeurology. Genetics2020

Novel dominant MPAN family with a complex genetic architecture as a basis for phenotypic variability.

Peter Balicza, Renata Bencsik, Andras Lengyel, Aniko Gal, Zoltan Grosz, Dora Csaban, Gabor Rudas, Krisztina Danics, Gabor G Kovacs, Maria Judit Molnar

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurology. Genetics, 2020. 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
0.9field-weighted citation impact, top 25% 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, 17 citations in OpenAlex.

  1. Article
  2. Review
  3. Review
  4. Review
  5. PLA2G6-associated late-onset parkinsonism in a Sudanese family.Annals of clinical and translational neurology · 2023
    Article
  6. Genetic landscape of early-onset dementia in Hungary.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022
    Article
  7. Classification of diseases with accumulation of Tau protein.Neuropathology and applied neurobiology · 2022
    Article
  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 1 institution in 3 countries.

Peter BaliczaInstitute of Genomic Medicine and Rare Diseases (P.B., R.B., A.L., A.G., Z.G., D.C., M.J.M.), Semmelweis University, Budapest, Hungary; Neurology Outpatient Clinic (A.L.), General Medical Clinic, Motala Hospital, Sweden; Department of Neuroradiology (G.R.), and Department of Forensic and Insurance Medicine (K.D.), Semmelweis University, Budapest, Hungary; Tanz Centre for Research in Neurodegenerative Disease (G.G.K.), and Department of Laboratory Medicine and Pathobiology (G.G.K.), University of Toronto; and Laboratory Medicine Program (G.G.K.), University Health Network, Toronto, Canada.ORCID 0000-0001-8555-5467
Renata BencsikInstitute of Genomic Medicine and Rare Diseases (P.B., R.B., A.L., A.G., Z.G., D.C., M.J.M.), Semmelweis University, Budapest, Hungary; Neurology Outpatient Clinic (A.L.), General Medical Clinic, Motala Hospital, Sweden; Department of Neuroradiology (G.R.), and Department of Forensic and Insurance Medicine (K.D.), Semmelweis University, Budapest, Hungary; Tanz Centre for Research in Neurodegenerative Disease (G.G.K.), and Department of Laboratory Medicine and Pathobiology (G.G.K.), University of Toronto; and Laboratory Medicine Program (G.G.K.), University Health Network, Toronto, Canada.
Andras LengyelInstitute of Genomic Medicine and Rare Diseases (P.B., R.B., A.L., A.G., Z.G., D.C., M.J.M.), Semmelweis University, Budapest, Hungary; Neurology Outpatient Clinic (A.L.), General Medical Clinic, Motala Hospital, Sweden; Department of Neuroradiology (G.R.), and Department of Forensic and Insurance Medicine (K.D.), Semmelweis University, Budapest, Hungary; Tanz Centre for Research in Neurodegenerative Disease (G.G.K.), and Department of Laboratory Medicine and Pathobiology (G.G.K.), University of Toronto; and Laboratory Medicine Program (G.G.K.), University Health Network, Toronto, Canada.
Aniko GalInstitute of Genomic Medicine and Rare Diseases (P.B., R.B., A.L., A.G., Z.G., D.C., M.J.M.), Semmelweis University, Budapest, Hungary; Neurology Outpatient Clinic (A.L.), General Medical Clinic, Motala Hospital, Sweden; Department of Neuroradiology (G.R.), and Department of Forensic and Insurance Medicine (K.D.), Semmelweis University, Budapest, Hungary; Tanz Centre for Research in Neurodegenerative Disease (G.G.K.), and Department of Laboratory Medicine and Pathobiology (G.G.K.), University of Toronto; and Laboratory Medicine Program (G.G.K.), University Health Network, Toronto, Canada.
Zoltan GroszInstitute of Genomic Medicine and Rare Diseases (P.B., R.B., A.L., A.G., Z.G., D.C., M.J.M.), Semmelweis University, Budapest, Hungary; Neurology Outpatient Clinic (A.L.), General Medical Clinic, Motala Hospital, Sweden; Department of Neuroradiology (G.R.), and Department of Forensic and Insurance Medicine (K.D.), Semmelweis University, Budapest, Hungary; Tanz Centre for Research in Neurodegenerative Disease (G.G.K.), and Department of Laboratory Medicine and Pathobiology (G.G.K.), University of Toronto; and Laboratory Medicine Program (G.G.K.), University Health Network, Toronto, Canada.
Dora CsabanInstitute of Genomic Medicine and Rare Diseases (P.B., R.B., A.L., A.G., Z.G., D.C., M.J.M.), Semmelweis University, Budapest, Hungary; Neurology Outpatient Clinic (A.L.), General Medical Clinic, Motala Hospital, Sweden; Department of Neuroradiology (G.R.), and Department of Forensic and Insurance Medicine (K.D.), Semmelweis University, Budapest, Hungary; Tanz Centre for Research in Neurodegenerative Disease (G.G.K.), and Department of Laboratory Medicine and Pathobiology (G.G.K.), University of Toronto; and Laboratory Medicine Program (G.G.K.), University Health Network, Toronto, Canada.
Gabor RudasInstitute of Genomic Medicine and Rare Diseases (P.B., R.B., A.L., A.G., Z.G., D.C., M.J.M.), Semmelweis University, Budapest, Hungary; Neurology Outpatient Clinic (A.L.), General Medical Clinic, Motala Hospital, Sweden; Department of Neuroradiology (G.R.), and Department of Forensic and Insurance Medicine (K.D.), Semmelweis University, Budapest, Hungary; Tanz Centre for Research in Neurodegenerative Disease (G.G.K.), and Department of Laboratory Medicine and Pathobiology (G.G.K.), University of Toronto; and Laboratory Medicine Program (G.G.K.), University Health Network, Toronto, Canada.
Krisztina DanicsInstitute of Genomic Medicine and Rare Diseases (P.B., R.B., A.L., A.G., Z.G., D.C., M.J.M.), Semmelweis University, Budapest, Hungary; Neurology Outpatient Clinic (A.L.), General Medical Clinic, Motala Hospital, Sweden; Department of Neuroradiology (G.R.), and Department of Forensic and Insurance Medicine (K.D.), Semmelweis University, Budapest, Hungary; Tanz Centre for Research in Neurodegenerative Disease (G.G.K.), and Department of Laboratory Medicine and Pathobiology (G.G.K.), University of Toronto; and Laboratory Medicine Program (G.G.K.), University Health Network, Toronto, Canada.
Gabor G KovacsInstitute of Genomic Medicine and Rare Diseases (P.B., R.B., A.L., A.G., Z.G., D.C., M.J.M.), Semmelweis University, Budapest, Hungary; Neurology Outpatient Clinic (A.L.), General Medical Clinic, Motala Hospital, Sweden; Department of Neuroradiology (G.R.), and Department of Forensic and Insurance Medicine (K.D.), Semmelweis University, Budapest, Hungary; Tanz Centre for Research in Neurodegenerative Disease (G.G.K.), and Department of Laboratory Medicine and Pathobiology (G.G.K.), University of Toronto; and Laboratory Medicine Program (G.G.K.), University Health Network, Toronto, Canada.
Maria Judit MolnarInstitute of Genomic Medicine and Rare Diseases (P.B., R.B., A.L., A.G., Z.G., D.C., M.J.M.), Semmelweis University, Budapest, Hungary; Neurology Outpatient Clinic (A.L.), General Medical Clinic, Motala Hospital, Sweden; Department of Neuroradiology (G.R.), and Department of Forensic and Insurance Medicine (K.D.), Semmelweis University, Budapest, Hungary; Tanz Centre for Research in Neurodegenerative Disease (G.G.K.), and Department of Laboratory Medicine and Pathobiology (G.G.K.), University of Toronto; and Laboratory Medicine Program (G.G.K.), University Health Network, Toronto, Canada.
Semmelweis University · HU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveOur aim was to study a Hungarian family with autosomal dominantly inherited neurodegeneration with brain iron accumulation (NBIA) with markedly different intrafamilial expressivity.

methodsTargeted sequencing and multiplex ligation-dependent probe amplification (MLPA) of known NBIA-associated genes were performed in many affected and unaffected members of the family. In addition, a trio whole-genome sequencing was performed to find a potential explanation of phenotypic variability. Neuropathologic analysis was performed in a single affected family member.

resultsThe clinical phenotype was characterized by 3 different syndromes-1 with rapidly progressive dystonia-parkinsonism with cognitive deterioration, 1 with mild parkinsonism associated with dementia, and 1 with predominantly psychiatric symptoms along with movement disorder. A heterozygous stop-gain variation in the

conclusionsOur study expands the number of cases reported with autosomal dominant mitochondrial membrane protein-associated neurodegeneration and emphasizes the complexity of the genetic architecture, which might contribute to intrafamilial phenotypic variability.

Identifiers

PMID33134513
PMCPMC7577556
OpenAlexW3084271221

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LicenceCC BY-NC-ND
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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.