Brain MRI Pattern Recognition in Neurodegeneration With Brain Iron Accumulation [PDF]
Frontiers in Neurology, 2020 Most neurodegeneration with brain iron accumulation (NBIA) disorders can be distinguished by identifying characteristic changes on magnetic resonance imaging (MRI) in combination with clinical findings.
Jae-Hyeok Lee +4 more
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Neurodegeneration with brain iron accumulation
Annals of Indian Academy of Neurology, 2019 The term NBIA encompasses a heterogeneous group of inherited disorders characterized clinically by progressive extra pyramidal syndrome and pathologically by excessive iron deposition in brain, primarily affecting the basal ganglia (globus pallidus ...
Amit Batla, Chandana Gaddipati
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Type 1 neurodegeneration with brain iron accumulation: a case report [PDF]
Journal of Medical Case Reports, 2022 Background Type 1 neurodegeneration with brain iron accumulation is a rare neurological disorder with estimated prevalence of one to two per million persons worldwide, characterized by progressive degeneration of basal ganglia, globus pallidus, and ...
Pedro Enrique Labrada-Aguilera +3 more
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Neurodegeneration with Brain Iron Accumulation: Diagnosis and Management [PDF]
Journal of Movement Disorders, 2015 Neurodegeneration with brain iron accumulation (NBIA) encompasses a group of inherited disorders that share the clinical features of an extrapyramidal movement disorder accompanied by varying degrees of intellectual disability and abnormal iron ...
Penelope Hogarth
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Neurodegeneration with brain iron accumulation: A case report [PDF]
Dementia & Neuropsychologia, 2016 Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder caused by mutation in the PANK2 gene. It is characterized by abnormal brain iron accumulation, mainly in the globus pallidus.
Daniel Nassif +4 more
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Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect [PDF]
Annals of Clinical and Translational Neurology, 2020 Abstact FBXO7 is implicated in the ubiquitin–proteasome system and parkin‐mediated mitophagy. FBXO7defects cause a levodopa‐responsive parkinsonian‐pyramidal syndrome(PPS).
Marta Correa‐Vela +17 more
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Self-mutilation in neurodegeneration with brain iron accumulation
Indian Journal of Dermatology, 2015 Neurodegeneration with brain iron accumulation (NBIA) is the term applied to a heterogeneous group of disorders resulting in iron deposition in the basal ganglia.
Sadanandavalli Retnaswami Chandra +2 more
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Neurodegeneration with Brain Iron Accumulation: Two Additional Cases with Dystonic Opisthotonus [PDF]
Tremor and Other Hyperkinetic Movements, 2019 Background: Specific phenomenology and pattern of involvement in movement disorders point toward a probable clinical diagnosis. For example, forehead chorea usually suggests Huntington’s disease; feeding dystonia suggests neuroacanthocytosis and risus ...
Sahil Mehta, Vivek Lal
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Botulinum Toxin-A Injection in the Treatment of Spasticity in a Infantile-Onset Neurodegeneration With Brain Iron Accumulation: A Case Report [PDF]
Annals of Rehabilitation Medicine, 2018 Pantothenate kinase-associated neurodegeneration (PKAN) is a neurodegenerative disorder characterized by iron accumulation in the globus pallidus (GP) of the brain (neurodegeneration with brain iron accumulation [NBIA]), which is characterized by ...
Hwan Kwon Do +3 more
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Emerging Disease-Modifying Therapies in Neurodegeneration With Brain Iron Accumulation (NBIA) Disorders [PDF]
Frontiers in Neurology, 2021 Ivan Karin +2 more
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