Quantitative susceptibility mapping (QSM) evaluation of infantile neuroaxonal dystrophy
نویسندگان
چکیده
منابع مشابه
Infantile neuroaxonal dystrophy.
as encephalitis, diabetes, heart failure, carbon monoxide poisoning, and cerebral arteriosclerosis. However, in a few recorded cases spheroids were sufficiently numerous to dominate the morphological picture. Some of these patients were infants or children showing a somewhat uniform clinical picture and pattern of encephalopathy, so that they could have been cases of the same disease or syndrom...
متن کاملInfantile Neuroaxonal Dystrophy
Keywords Disease names and synonyms Definition/Diagnostic criteria Differential diagnosis Etiology Clinical description Diagnostic methods Epidemiology Management Unresolved questions References Abstract Infantile neuroaxonal dystrophy (INAD) is a rare autosomal recessive neurodegenerative disorder with onset in the first or second year of life. Frequency is unknown. It is characterized by a pr...
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BACKGROUND This study explores the magnetostatic properties of the Alzheimer's disease brain using a recently proposed, magnetic resonance imaging, postprocessed contrast mechanism. Quantitative susceptibility mapping (QSM) has the potential to monitor in vivo iron levels by reconstructing magnetic susceptibility sources from field perturbations. However, with phase data acquired at a single he...
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Breath-holding spells are episodes of brief, involuntary cessations of breathing that occur in children in response to stimuli such as fear or injury. They are usually benign, and although very rarely, breath-holding spells accompany deteriorative neurological diseases. Here, we present two patients having infantile neuroaxonal dystrophy and breath-holding spells. Presence of the common respira...
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Mitochondrial dysfunction is increasingly being recognized as a therapeutic target in PLA26G-associated neurodegeneration (PLAN). We demonstrated in Drosophila and in human PLA2G6 mutant fibroblasts that loss of normal PLA2G6 activity is associated with increased mitochondrial lipid peroxidation and mitochondrial dysfunction. Furthermore, we identified the therapeutic benefits of deuterated pol...
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ژورنال
عنوان ژورنال: BJR|case reports
سال: 2019
ISSN: 2055-7159
DOI: 10.1259/bjrcr.20180078