Aceruloplasminemia is a rare autosomal recessive disorder. The lack of ceruloplasmin ferroxidase activity leads to parenchymal and reticuloendothelial iron overload, resulting in diabetes and progressive neurodegeneration with extrapyramidal disorders, ataxia, and dementia. We describe the MR imaging findings in a 40-year-old woman with hereditary aceruloplasminemia. The abnormal T2 hypointensi...

Hemophilia A is an X-linked recessive disorder caused by a deficiency of plasma coagulation FVIII, which may be inherited or arise from spontaneous mutation. FVIII leads to decrease in normal hemostasis and manifested induced bleeding. As result hemorrhages the central nervous system, neurological complications are possible. In such cases, doctors should on alert so as not miss another accompan...

Aberrant brain iron deposition is observed in both common and rare neurodegenerative disorders, including those categorized as Neurodegeneration with Brain Iron Accumulation (NBIA), which are characterized by focal iron accumulation in the basal ganglia. Two NBIA genes are directly involved in iron metabolism, but whether other NBIA-related genes also regulate iron homeostasis in the human brai...

BACKGROUND Neurodegeneration with brain iron accumulation (NBIA), formerly known as Hallervorden-Spatz syndrome, is a heterogeneous group of disorders with different treatment options. CASE REPORTS In the first case, progressively generalizing dystonic symptoms appeared during childhood. A mutation in the gene encoding pantothenate kinase 2 (PANK2) was found. Brain MRI showed bilateral hypers...

Iron’s activity in the body can be two-faced. On the one hand it is integral to many enzymatic reactions; on the other hand it is toxic, with a great capacity for cellular damage. This review examines iron in the brain through the lens of multiple sclerosis (MS), reviewing the functions of intracellular and extracellular iron and their impact on the disease, as well as highlighting the focus of...

Neuroferritinopathy is an autosomal dominant extrapyramidal movement disorder, caused by FTL gene mutations. Iron decreases the MR T2* decay time, therefore increasing the R2* (R2* = 1 /T2*), which correlates with brain tissue iron content. 3T structural and quantitative MR imaging assessment of R2* in 10 patients with neuroferritinopathy demonstrated a unique pattern of basal ganglia cavitatio...