Iron has emerged as a significant cause of neurotoxicity in several neurodegenerative
conditions, including Alzheimer's disease (AD), Parkinson's disease (PD), sporadic …

NBIA (Neurodegeneration with brain iron accumulation) is a group of inherited neurologic
disorders characterized by marked genetic heterogeneity, in which iron atypical …

Syndromes with neurodegeneration with brain iron accumulation (NBIA) are a group of
neurodegenerative disorders associated with abnormalities in brain iron metabolism and …

We aimed to identify the genetic cause of a neurologic disorder accompanied with mental
deficiency in a consanguineous family with 3 affected siblings by linkage analysis and …

In parallel to recent developments of genetic techniques, understanding of the syndromes of
neurodegeneration with brain iron accumulation has grown considerably. The …

Ophthalmic findings are common features of neurodegenerative disorders and, in addition to
being clinically important, have emerged as potentially useful biomarkers of disease …

Introduction Mutations in the C19orf12 gene cause mitochondrial membrane protein
associated neurodegeneration (MPAN), an autosomal recessive form of neurodegeneration …

Neurodegeneration with brain iron accumulation (NBIA) is a group of rare and devastating
disorders characterized by iron deposition in the brain. Mutations in C19orf12 cause …

Panthothenate kinase-associated neurodegeneration (PKAN, OMIM 234200), is an inborn is
an autosomal recessive inborn error of metabolism caused by pathogenic variants in …

Objective Neurodegeneration with brain iron accumulation (NBIA) is a group of
neurodegenerative disorder with deposition of iron in the brain (mainly Basal Ganglia) …