Clinical and Imaging Presentation of a Patient with Beta-Propeller Protein-Associated Neurodegeneration, a Rare and Sporadic form of Neurodegeneration with Brain Iron Accumulation (NBIA)
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DOI: 10.1007/s00062-017-0605-9
Abstract: Neurodegeneration with brain iron accumulation (NBIA) is a heterogeneous group of inherited neurologic disorders with iron accumulation in the basal ganglia, which share magnetic resonance (MR) imaging characteristics, histopathologic and clinical features. According to the affected… read more here.
Keywords: neurodegeneration; brain iron; neurodegeneration brain; iron accumulation ... See more keywords
Different cortical excitability profiles in hereditary brain iron and copper accumulation
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DOI: 10.1007/s10072-019-04147-0
Abstract: Background and aim Neurodegeneration with brain iron accumulation (NBIA) and Wilson’s disease (WD) is considered the prototype of neurodegenerative disorders characterised by the overloading of iron and copper in the central nervous system. Growing evidence… read more here.
Keywords: copper; brain iron; cortical excitability; excitability ... See more keywords
Susceptibility-weighted imaging and transcranial Doppler ultrasound in patients with cerebral small vessel disease
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DOI: 10.1007/s10072-020-04414-5
Abstract: Introduction Cerebral small vessel disease (SVD) is a common accompaniment to aging. Magnetic resonance imaging (MRI) features of SVD include lacunar infarcts (LI) and white matter hyperintensity (WMH). Brain iron deposition is also a known… read more here.
Keywords: cerebral small; brain iron; brain; iron deposition ... See more keywords
The role of transferrins and iron-related proteins in brain iron transport: applications to neurological diseases.
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DOI: 10.1016/bs.apcsb.2020.09.002
Abstract: Iron transport in the central nervous system (CNS) is a highly regulated process in which several important proteins participate to ensure this important metal reaches its sites of action. However, iron accumulation has been shown… read more here.
Keywords: iron; brain iron; iron transport; part ... See more keywords
Mutations in DDHD1, encoding a phospholipase A1, is a novel cause of retinopathy and neurodegeneration with brain iron accumulation.
Sign Up to like & getrecommendations! Published in 2017 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2017.08.015
Abstract: Defects of phospholipids remodelling and synthesis are inborn errors of metabolism responsible for various clinical presentations including spastic paraplegia, retinopathy, optic atrophy, myo- and cardiomyopathies, and osteo-cutaneous manifestations. DDHD1 encodes a phospholipase A1, which is… read more here.
Keywords: mutations ddhd1; neurodegeneration brain; phospholipase; brain iron ... See more keywords
Brain iron deposition in patients with white matter hyperintensities of presumed vascular origin
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DOI: 10.1016/j.neurobiolaging.2016.09.025
Abstract: I read with great interest the paper of Gattringer et al., who reported that “No evidence for increased brain iron deposition in patients with ischemic white matter disease” and who stated that “white matter hyperintensities… read more here.
Keywords: iron deposition; matter; brain iron; deposition patients ... See more keywords
Generation of a human induced pluripotent stem cell (iPSC) line (IBMS-iPSC-070-02) from a patient with neurodegeneration with brain iron accumulation (NBIA) having compound heterozygous mutations in PANK2 gene.
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DOI: 10.1016/j.scr.2021.102190
Abstract: Neurodegeneration with brain iron accumulation (NBIA) is a genetically and phenotypically heterogeneous group of inherited neurodegenerative disorder characterized by basal ganglia iron deposition. Mutations in Pantothenate Kinase 2 (PANK2) are major genetic causes for patients… read more here.
Keywords: neurodegeneration brain; brain iron; accumulation nbia; iron accumulation ... See more keywords
Lithium suppression of tau induces brain iron accumulation and neurodegeneration
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DOI: 10.1038/mp.2016.96
Abstract: Lithium is a first-line therapy for bipolar affective disorder. However, various adverse effects, including a Parkinson-like hand tremor, often limit its use. The understanding of the neurobiological basis of these side effects is still very… read more here.
Keywords: tau; brain iron; lithium; iron elevation ... See more keywords
Brain Iron Accumulation and the Formation of Calcifications After Developmental Zika Virus Infection.
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DOI: 10.1093/jnen/nlaa043
Abstract: Intracranial calcifications (ICC) are the most common neuropathological finding in the brains of children exposed in utero to the Zika virus (ZIKV). Using a mouse model of developmental ZIKV infection, we reported widespread calcifications in… read more here.
Keywords: iron; infection; formation; brain iron ... See more keywords
Brain iron transport
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DOI: 10.1111/brv.12521
Abstract: Brain iron is a crucial participant and regulator of normal physiological activity. However, excess iron is involved in the formation of free radicals, and has been associated with oxidative damage to neuronal and other brain… read more here.
Keywords: iron transport; brain iron; iron levels; iron ... See more keywords
Brain iron deposition and movement disorders in hereditary haemochromatosis without liver failure: A cross‐sectional study
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DOI: 10.1111/ene.15242
Abstract: Hereditary haemochromatosis (HH) is the most common inherited disorder of systemic iron excess in Northern Europeans. Emerging evidence indicates that brain iron overload occurs in HH. Despite this observation, there is a paucity of literature… read more here.
Keywords: movement disorders; iron deposition; iron; hereditary haemochromatosis ... See more keywords