ArticleBrain : a journal of neurology2011
Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration.
Article in Brain : a journal of neurology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 63 papers, 1 of them a synthesis that pooled it.
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Who cites it
63 citing papers in PubMed, 1 synthesis or guideline pooled it, 122 citations in OpenAlex.
- Identification of mineral deposits in the brain on radiological images: a systematic review.European radiology · 2012Pooled it
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- Olfactory status in neurodegeneration with brain iron accumulation disorders.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2024Article
- Drug Drop Test: How to Quickly Identify Potential Therapeutic Compounds for Mitochondrial Diseases Using YeastInternational journal of molecular sciences · 2023Review
- Origins of nervous tissue susceptibility to ferroptosis.Cell insight · 2023Review
- Inherited Disorders of Coenzyme A Biosynthesis: Models, Mechanisms, and Treatments.International journal of molecular sciences · 2023Review
- PPAR Gamma Agonist Leriglitazone Recovers Alterations Due to Pank2-Deficiency in hiPS-Derived Astrocytes.Pharmaceutics · 2023Article
- PKAN pathogenesis and treatment.Molecular genetics and metabolism · 2022Review
- Bi-Allelic Mutations in ZebrafishInternational journal of molecular sciences · 2022Article
- Cerebral Iron Deposition in Neurodegeneration.Biomolecules · 2022Review
- Cognitive and Physical Intervention in Metals' Dysfunction and Neurodegeneration.Brain sciences · 2022Review
- Massive iron accumulation in PKAN-derived neurons and astrocytes: light on the human pathological phenotype.Cell death & disease · 2022Article
- NovelFrontiers in aging neuroscience · 2022Article
- Coenzyme a Biochemistry: From Neurodevelopment to Neurodegeneration.Brain sciences · 2021Review
- Changes in Cerebral Gray and White Matter in Patients with Pantothenate Kinase-Associated Neurodegeneration: A Long-Term Magnetic Resonance Imaging Follow-Up Study.Journal of movement disorders · 2021Article
- Functional connectivity of the motor system in dystonia due to PKAN.eNeurologicalSci · 2021Article
- Towards Precision Therapies for Inherited Disorders of Neurodegeneration with Brain Iron Accumulation.Tremor and other hyperkinetic movements (New York, N.Y.) · 2021Review
- Iron Deposition Characteristics of Deep Gray Matter in Elderly Individuals in the Community Revealed by Quantitative Susceptibility Mapping and Multiple Factor Analysis.Frontiers in aging neuroscience · 2021Article
- Exploring Yeast as a Study Model of Pantothenate Kinase-Associated Neurodegeneration and for the Identification of Therapeutic Compounds.International journal of molecular sciences · 2020Article
3 more citing papers are in PubMed but not listed here.
Corrections and comments
- Commented on byAny old iron?2011
Authors and funding
9 authors at 2 institutions in 2 countries.
Funding
Abstract
Pantothenate kinase-associated neurodegeneration is a form of neurodegeneration with brain iron accumulation, characterized by a progressive movement disorder and prominent iron deposition in the globus pallidus. Formerly referred to as Hallervorden-Spatz syndrome, the disorder was renamed pantothenate kinase-associated neurodegeneration after discovery of the causative gene, PANK2. Although the pathological features of clinically characterized Hallervorden-Spatz syndrome have been described, the literature is confounded by the historical use of this term for nearly all conditions with prominent basal ganglia iron accumulation and by the fact that this term encompasses a genetically heterogeneous group of disorders, now referred to as 'neurodegeneration with brain iron accumulation'. As a result, interpreting reports that precede molecular characterization of specific forms of neurodegeneration with brain iron accumulation is problematic. In the present studies, we describe neuropathological findings in six cases of molecularly confirmed pantothenate kinase-associated neurodegeneration. We identify prominent ubiquinated deposits in pantothenate kinase-associated neurodegeneration. We also characterize two distinct origins of spheroid bodies and delineate histological features of iron deposition. In so doing, we characterize fundamental features of the disease and redefine its nosological relationship to other neurodegenerative disorders.
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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.