ReviewTremor and other hyperkinetic movements (New York, N.Y.)2016
Neuroferritinopathy: Pathophysiology, Presentation, Differential Diagnoses and Management.
Review in Tremor and other hyperkinetic movements (New York, N.Y.), 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
What it found
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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
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 31 citations in OpenAlex.
- Treatment of Secondary Chorea: A Review of the Current Literature.Tremor and other hyperkinetic movements (New York, N.Y.) · 2020Pooled it
- A fistful of iron: ferritin as a vulnerability point of the brain cancers.Cell death & disease · 2026Review
- Review
- Spatiotemporal patterns of gene expression changes in the mouse dentate gyrus following entorhinal denervation.Frontiers in molecular neuroscience · 2026Article
- Targeting iron-associated protein Ftl1 in the brain of old mice improves age-related cognitive impairment.Nature aging · 2025Article
- Dystonic Leg Cramps and Cataracts with Low Ferritin and Normal Neuroimaging: An Overlapping Spectrum of FTL Gene Related Disorders.Movement disorders clinical practice · 2024Article
- A defect in mitochondrial fatty acid synthesis impairs iron metabolism and causes elevated ceramide levels.Nature metabolism · 2023Article
- NICOTIANAMINE SYNTHASE activity affects nucleolar iron accumulation and impacts rDNA silencing and RNA methylation in Arabidopsis.Journal of experimental botany · 2023Article
- Pallidal degenerations and related disorders: an update.Journal of neural transmission (Vienna, Austria : 1996) · 2022Review
- Cerebral Iron Deposition in Neurodegeneration.Biomolecules · 2022Review
- Huntington's disease: lessons from prion disorders.Journal of neurology · 2021Article
- Article
- New Insights into the Role of Ferritin in Iron Homeostasis and Neurodegenerative Diseases.Molecular neurobiology · 2021Review
- Overdosing on iron: Elevated iron and degenerative brain disorders.Experimental biology and medicine (Maywood, N.J.) · 2020Review
- A Patient with Neuroferritinopathy Presenting with Juvenile-Onset Voice Tremor.Journal of movement disorders · 2020Article
- Brain MRI Pattern Recognition in Neurodegeneration With Brain Iron Accumulation.Frontiers in neurology · 2020Review
- Neuropathology and pathogenesis of extrapyramidal movement disorders: a critical update. II. Hyperkinetic disorders.Journal of neural transmission (Vienna, Austria : 1996) · 2019Review
- Iron and manganese-related CNS toxicity: mechanisms, diagnosis and treatment.Expert review of neurotherapeutics · 2019Review
- Neurodegeneration with Brain Iron Accumulation.Annals of Indian Academy of NeurologyArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundNeuroferritinopathy (NF) is a rare autosomal dominant disease caused by mutations in the ferritin light chain 1 (FTL1) gene leading to abnormal excessive iron accumulation in the brain, predominantly in the basal ganglia.
methodsA literature search was performed on Pubmed, for English-language articles, utilizing the terms iron metabolism, neurodegeneration with brain iron accumulation, and NF. The relevant articles were reviewed with a focus on the pathophysiology, clinical presentation, differential diagnoses, and management of NF.
resultsThere have been nine reported mutations worldwide in the FTL1 gene in 90 patients, the most common mutation being 460InsA. Chorea and dystonia are the most common presenting symptoms in NF. There are specific features, which appear to depend upon the genetic mutation. We discuss the occurrence of specific mutations in various regions along with their associated presenting phenomenology. We have compared and contrasted the commonly occurring syndromes in the differential diagnosis of NF to guide the clinician. DISCUSSION: NF must be considered in patients presenting clinically as a progressive movement disorder with variable phenotype and imaging evidence of iron deposition within the brain, decreased serum ferritin, and negative genetic testing for other more common movement disorders such as Huntington's disease. In the absence of a disease-specific treatment, symptomatic drug therapy for specific movement disorders may be used, although with variable success.
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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.