The infantile neuroaxonal dystrophy rating scale (INAD-RS)
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...
متن کاملDevastating Neurological Disorders: Breath-holding Spells in Infantile Neuroaxonal Dystrophy
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...
متن کاملGlial mitochondropathy in infantile neuroaxonal dystrophy: pathophysiological and therapeutic implications.
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...
متن کاملGenetic Analysis of PLA2G6 in 22 Indian Families with Infantile Neuroaxonal Dystrophy, Atypical Late-Onset Neuroaxonal Dystrophy and Dystonia Parkinsonism Complex
Mutations in PLA2G6 were identified in patients with a spectrum of neurodegenerative conditions, such as infantile neuroaxonal dystrophy (INAD), atypical late-onset neuroaxonal dystrophy (ANAD) and dystonia parkinsonism complex (DPC). However, there is no report on the genetic analysis of families with members affected with INAD, ANAD and DPC from India. Therefore, the main aim of this study wa...
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ژورنال
عنوان ژورنال: Orphanet Journal of Rare Diseases
سال: 2020
ISSN: 1750-1172
DOI: 10.1186/s13023-020-01479-5