Iron is an essential element necessary for energy production, DNA and neurotransmitter
synthesis, myelination and phospholipid metabolism. Neurodegeneration with brain iron …

Cirrhosis and its co-morbidities may cause a variety of neurological complications, the most
common being bouts of toxic metabolic encephalopathy. A proportion of patients with …

Hypomyelination is observed in the context of a growing number of genetic disorders that
share clinical characteristics. The aim of this study was to determine the possible role of …

In a field where even experts may find that years have elapsed since they last encountered a
child with a given disorder, it is essential for the clinician to have a comprehensive source of …

In a field where even experts may find that years have elapsed since they last encountered a
child with a given disorder, it is essential for the clinician to have a comprehensive source of …

Introduction Lysosomal disorders are rare and are caused by genetically transmitted
lysosomal enzyme deficiencies. A decreased T2 signal in the thalamus has occasionally …

Introduction In children, many inherited or acquired neurological disorders may cause
bilateral symmetrical signal intensity alterations in the basal ganglia and thalami. Methods A …

The leukodystrophies comprise an ever-expanding group of rare central nervous system
disorders with defined clinical, pathological, and genetic characteristics. The broader term …

Mouse models of human disease remain the bread and butter of modern biology and
therapeutic discovery. Nonetheless, more often than not mouse models do not reproduce …

Background Fucosidosis is a rare lysosomal disorder caused by mutations in the FUCA1
gene. We describe here a novel homozygous mutation in FUCA1 in an Indian fucosidosis …