نتایج جستجو برای: associated neurodegeneration
تعداد نتایج: 1531207 فیلتر نتایج به سال:
Pantothenate kinase-associated neurodegeneration is a form of neurodegeneration with brain iron accumulation, characterized by a progressive movement disorder and prominent iron deposition in the globus pallidus. Formerly referred to as Hallervorden-Spatz syndrome, the disorder was renamed pantothenate kinase-associated neurodegeneration after discovery of the causative gene, PANK2. Although th...
Mitochondria membrane protein-associated neurodegeneration (MPAN) neurodegenerative disorder is typically associated with biallelic C19orf12 variants. Here we describe a new and review candidate previous monoallelic de novo variants to define loss of function mutations located in the putative non-membrane spanning isoform as potential basis MPAN.
neurodegeneration is a complex and multifaceted process leading to many chronic disease states. a conventional definition implies a progressive neuronal death, which usually affects a specific population of nerve cells the vulnerability of which determines the clinical manifestations of a particular neurodegenerative disease. the neurodegenerative process is associated with many events. each ev...
Pantothenate-kinase-associated neurodegeneration is the most common autosomal recessive form of neurodegeneration with brain iron accumulation. Less than 100 mutations in PANK2 gene (20p13) are responsible for classic and atypical cases. We report here the first Greek case of atypical pantothenate-kinase-associated neurodegeneration, confirmed by molecular analysis that revealed two trans-actin...
Background & aims Carotenoids are vegetable pigments with neuroprotective properties. Clinical studies found efficacy of specific carotenoids on improving brain perfusion and functioning aging. However, evidence an effect neurodegeneration, which may require longer follow-up period to observe, is more limited. Leveraging biomarkers from a large population-based cohort study older adults, we inv...
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