background: pantothenate kinase associated neurodegeneration (pkan) is the most prevalent type of neurodegeneration with brain iron accumulation (nbia) disorders characterized by extrapyramidal signs, and 'eye-of-the-tiger' on t2 brain magnetic resonance imaging (mri) characterized by hypointensity in globus pallidus and a hyperintensity in its core. all pkan patients have homozygous or compoun...

Hallervorden-Spatz syndrome is a disorder characterized by dystonia, parkinsonism, and iron accumulation in the brain. The disease is caused by mutations in gene encoding pantothenate kinase 2 (PANK2) and patients have pantothenate kinase-associated neurodegeneration. We present an 8-year-old boy with progressive muscle dystonia, neuroregression, frequent fall and multiple injur...

hallervorden-spatz syndrome is a disorder characterized by dystonia, parkinsonism, and iron accumulation in the brain. the disease is caused by mutations in gene encoding pantothenate kinase 2 (pank2) and patients have pantothenate kinase-associated neurodegeneration. we present an 8-year-old boy with progressive muscle dystonia, neuroregression, frequent fall and multiple injury marks of diffe...

OBJECTIVE To evaluate whether kidney and cyst volumes can be accurately estimated based on limited area measurements from magnetic resonance (MR) images of patients with autosomal dominant polycystic kidney disease (ADPKD). MATERIALS AND METHODS MR coronal images of 178 ADPKD participants from the Consortium for Radiologic Imaging Studies of ADPKD (CRISP) were analyzed. For each MR image slic...

Pallido-nigral spheroids associated with iron deposition have been observed in some aged clinically normal nonhuman primates. In humans, similar findings are observed in neurodegeneration with brain iron accumulation diseases, which, in some cases, show associated mutations in pantothenate kinase 2 gene (PANK2). Here we present an aged gorilla, 40 years old, suffering during the last 2 years of...

pantothenate kinase- associated neurodegeneration (pkan) syndrome is a rare autosomal recessive disorder characterized by progressive extrapyramidal dysfunction and iron accumulation in the brain and axonal spheroids in the central nervous system. it has been shown that the disorder is caused by mutations in pank2 gene which codes for a mitochondrial enzyme participating in coenzyme a biosynthe...

Pantothenate kinase-associated neurodegeneration (PKAN) is an early onset and severely disabling neurodegenerative disease for which no therapy is available. PKAN is caused by mutations in PANK2, which encodes for the mitochondrial enzyme pantothenate kinase 2. Its function is to catalyze the first limiting step of Coenzyme A (CoA) biosynthesis. We generated induced pluripotent stem cells from ...

The metabolic machinery for the biosynthesis of Coenzyme A (CoA) from exogenous pantothenic acid (Vitamin B5) has long been considered as an excellent target for the development of selective antimicrobials. Earlier studies in the human malaria parasite Plasmodium falciparum have shown that pantothenate analogs interfere with pantothenate phosphorylation and block asexual blood stage development...

BACKGROUND Pantothenate-kinase-associated neurodegeneration (PKAN) is an autosomal recessive neurodegenerative disorder that is characterized by progressive extrapyramidal signs, visual loss, and cognitive impairment. PKAN is caused by mutations in the pantothenate kinase gene (PANK2), which is located on chromosome 20p13 and encodes pantothenate kinase, the key regulatory enzyme in coenzyme-A ...