ArticleNeurocase2016
Clinical and imaging characteristics of late onset mitochondrial membrane protein-associated neurodegeneration (MPAN).
Article in Neurocase, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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.
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.
Who cites it
12 citing papers in PubMed, 23 citations in OpenAlex.
- Very late-onset MPAN presenting with rapid cognitive deterioration.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Article
- An Update and Perspectives on Mitochondrial Membrane Protein-Associated Neurodegeneration andBrain sciences · 2025Review
- C19orf12 gene variants causing mitochondrial membrane protein-associated neurodegeneration (MPAN).European journal of human genetics : EJHG · 2025Article
- A novel C19ORF12 mutation in two MPAN sisters treated with deferiprone.BMC neurology · 2023Article
- C19orf12 ablation causes ferroptosis in mitochondrial membrane protein-associated with neurodegeneration.Free radical biology & medicine · 2022Article
- An Updated Overview of the Magnetic Resonance Imaging of Brain Iron in Movement Disorders.Behavioural neurology · 2022Review
- SPG43 and ALS-like syndrome in the same family due to compound heterozygous mutations of the C19orf12 gene: a case description and brief review.Neurogenetics · 2021Review
- Emerging Disease-Modifying Therapies in Neurodegeneration With Brain Iron Accumulation (NBIA) Disorders.Frontiers in neurology · 2021Review
- Mitochondrial Dysfunction, Oxidative Stress and Neuroinflammation in Neurodegeneration with Brain Iron Accumulation (NBIA).Antioxidants (Basel, Switzerland) · 2020Review
- Late-Onset Mitochondrial Membrane Protein-Associated Neurodegeneration With Extensive Brain Iron Deposition.Movement disorders clinical practice · 2020Article
- A new NBIA patient from Turkey with homozygous C19ORF12 mutation.Acta neurologica Belgica · 2019Article
- Parkinson's Disease and Metal Storage Disorders: A Systematic Review.Brain sciences · 2018Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 4 institutions in 1 country.
Funding
Abstract
Young onset dementias present significant diagnostic challenges. We present the case of a 35-year-old Kuwaiti man with social withdrawal, drowsiness, irritability, anxiety, aphasia, memory loss, hypereflexia, and Parkinsonism. Brain MRI showed bilateral symmetric gradient echo hypointensities in the globi pallidi and substantiae nigrae. Left cortical hypometabolism was seen on brain fluorodeoxyglucose positron emission tomography. A cortical brain biopsy revealed a high Lewy body burden. Genetic testing revealed a homozygous p.T11M mutation in the C19orf12 gene consistent with mitochondrial membrane protein-associated neurodegeneration. This is the oldest onset age of MPAN reported.
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What OpenQuestion holds
Registered trials
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.