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Neurodegeneration with Brain Iron Accumulation
Current Clinical Neurology, 2012Recent years have witnessed the discoveries of several genes causing neurodegeneration with brain iron accumulation (NBIA) and subsequently their novel classification scheme was suggested. The first results of treatments with modern chelating drugs are also being published.Most recently, mutations in the c19orf12 gene encoding a mitochondrial protein ...
Roongroj Bhidayasiri +2 more
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Genetics of Neurodegeneration with Brain Iron Accumulation [PDF]
Current Neurology and Neuroscience Reports, 2011 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 ...
Allison Gregory +2 more
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Neurodegeneration with Brain Iron Accumulation
Iron participates in a wide array of cellular functions and is essential for normal neural development and physiology. However, if inappropriately managed, the transition metal is capable of generating neurotoxic reactive oxygen species. A number of hereditary conditions perturb body iron homeostasis and some, collectively referred to as ...David A, Schipper, Hyman M, Schipper
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Syndromes of Neurodegeneration With Brain Iron Accumulation
Seminars in Pediatric Neurology, 2012In parallel to recent developments of genetic techniques, understanding of the syndromes of neurodegeneration with brain iron accumulation has grown considerably. The acknowledged clinical spectrum continues to broaden, with age-dependent presentations being recognized.
Susanne A, Schneider, Kailash P, Bhatia
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Neurodegeneration with Brain Iron Accumulation
2014The spectrum of phenotypes included in the group of neurodegeneration with brain iron accumulation (NBIA) has been recently growing. It includes the genetically defined neurodegeneration associated with mutation in genes PANK2 (PKAN), PLA2G6 (PLAN), FA2H (FAHN), ATP13A2 (Kufor–Rakeb disease), CP (aceruloplasminemia), FTL1 (neuroferritinopathy) and the ...
Nardocci Nardo +3 more
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Therapeutic Advances in Neurodegeneration With Brain Iron Accumulation
Seminars in Pediatric Neurology, 2012Neurodegeneration with brain iron accumulation (NBIA) includes a heterogeneous group of genetically defined disorders characterized by progressive extrapyramidal deterioration and iron accumulation in the basal ganglia. Current medical options for these disorders remain largely unsatisfactory and do not prevent the disease from progressing to a severe ...
Giovanna, Zorzi +3 more
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Therapeutic Advances in Neurodegeneration with Brain Iron Accumulation
2013Neurodegeneration with brain iron accumulation (NBIA) includes a heterogeneous group of genetically defined progressive disorders with iron accumulation in the basal ganglia. Current conventional medical or surgical therapeutic options for these disorders remain unsatisfactory and do not prevent the disease to progress to a severe and most disabling ...
Giovanna, Zorzi, Nardo, Nardocci
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Novel C19orf12 loss-of-function variant leading to neurodegeneration with brain iron accumulation
Neurocase, 2021Aida M Bertoli-Avella +2 more
exaly
Neurodegeneration With Brain Iron Accumulation 5
Abstract This chapter provides pictures and clinical details of Neurodegeneration with Brain Iron Accumulation 5, an X-linked dominant syndrome with delayed psychomotor development and neurological symptoms with onset in early childhood.Charles E. Schwartz +2 more
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