ReviewCurrent neurology and neuroscience reports2011
Genetics of neurodegeneration with brain iron accumulation.
Review in Current neurology and neuroscience reports, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers.
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
46 citing papers in PubMed, 105 citations in OpenAlex.
- Serum metabolomics indicates ferroptosis in patients with pantothenate kinase associated neurodegeneration.Scientific reports · 2025Article
- Chorein deficiency promotes ferroptosis.FEBS open bio · 2025Article
- Brain Iron in signature regions relating to cognitive aging in older adults: the Taizhou Imaging Study.Alzheimer's research & therapy · 2024Article
- Genetic Targets and Applications of Iron Chelators for Neurodegeneration with Brain Iron Accumulation.ACS bio & med chem Au · 2024Review
- Article
- Nine Hereditary Movement Disorders First Described in Asia: Their History and Evolution.Journal of movement disorders · 2023Article
- Iron in Alzheimer's Disease: From Physiology to Disease Disabilities.Biomolecules · 2022Review
- Pathogenic mechanism and modeling of neuroferritinopathy.Cellular and molecular life sciences : CMLS · 2021Review
- WDR45 contributes to neurodegeneration through regulation of ER homeostasis and neuronal death.Autophagy · 2020Article
- Neurodegeneration with Brain Iron Accumulation Disorders: Valuable Models Aimed at Understanding the Pathogenesis of Iron Deposition.Pharmaceuticals (Basel, Switzerland) · 2019Review
- Novel mutations in PANK2 and PLA2G6 genes in patients with neurodegenerative disorders: two case reports.BMC medical genetics · 2017Article
- Lessons from a pair of siblings with BPAN.European journal of human genetics : EJHG · 2016Article
- WDR45 mutations in three male patients with West syndrome.Journal of human genetics · 2016Review
- Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient.European journal of human genetics : EJHG · 2016Article
- Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration.Journal of medical genetics · 2016Article
- Bilateral symmetrical basal ganglia and thalamic lesions in children: an update (2015).Neuroradiology · 2015Review
- Novel compound heterozygous frameshift mutations of C2orf37 in a familial Indian case of Woodhouse-Sakati syndrome.Journal of genetics · 2015Article
- Calcium-independent phospholipases A2 and their roles in biological processes and diseases.Journal of lipid research · 2015Review
- The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview.Journal of inherited metabolic disease · 2015Review
- Defective lipid metabolism in neurodegeneration with brain iron accumulation (NBIA) syndromes: not only a matter of iron.Journal of inherited metabolic disease · 2015Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
Abstract
The condition originally called Hallervorden-Spatz syndrome is a collection of related disorders involving abnormal iron accumulation in the basal ganglia, usually manifesting with a movement disorder. To date, mutations in the following genes have been associated with neurodegeneration with brain iron accumulation (NBIA) phenotypes: PANK2, PLA2G6, FA2H, ATP13A2, C2orf37, CP, and FTL. This collection, now classified under the umbrella term NBIA, continues to evolve as new genes and associated phenotypes are recognized. As this body of information continues to grow, better approaches to diagnosis and treatment have become available. Continued investigations of the underlying pathogenesis of disease, with a focus on lipid, iron, and energy metabolism, will lead to the identification of new therapeutic targets.
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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.