Neurodegeneration with brain iron accumulation
Journal Title: Folia Neuropathologica - Year 2005, Vol 43, Issue 4
Abstract
Neurodegeneration with brain iron accumulation (NBIA) describes a group of progressive extrapyramidal disorders with radiographic evidence of focal iron accumulation in the brain, usually in the basal ganglia. Patients previously diagnosed with Hallervorden-Spatz syndrome fall into this category. Mutations in the PANK2 gene account for the majority of NBIA cases and cause an autosomal recessive inborn error of coenzyme A metabolism called pantothenate kinase-associated neurodegeneration (PKAN). PKAN is characterized by dystonia and pigmentary retinopathy in children or speech and neuropsychiatric disorders in adults. In addition, a specific pattern on brain MRI, called the eye-of-the-tiger sign, is virtually pathognomonic for the disease. Pantothenate kinase is essential to coenzyme A biosynthesis, and the PANK2 protein is targeted to the mitochondria. Hypotheses of PKAN pathogenesis are based on the predictions of tissue-specific coenzyme A deficiency and the accumulation of cysteine-containing substrates. Identification of the major NBIA gene has led to more accurate clinical delineation of the diseases that comprise this group, a molecular diagnostic test for PKAN, and hypotheses for treatment.
Authors and Affiliations
Allison Gregory, Susan Hayflick
Keywords
Related Articles
- EP ID EP112763
- DOI -
- Views 67
- Downloads 0
Is there a spatial association between senile plaques and neurofibrillary tangles in Alzheimer’s disease?
Obective: To test the hypothesis that the clusters of senile plaques (SP) and neurofibrillary tangles (NFT) in patients with Alzheimer's disease (AD) are spatially associated as predicted by the 'Amyloid Cascade Hypoth...
In memory of Professor Maria Dąmbska
Epidermal growth factor receptor in glioblastoma
We compiled the current state of knowledge about the epidermal growth factor receptor (EGFR) in glioblastoma. Glioblastoma is one of the most common primary brain tumours and has an unfavourable prognosis despite aggress...
Abstracts
The role of excitotoxicity in neurodegeneration
A body of evidence suggests that the mechanisms of excitotoxic neuronal damage evoked by excessive or prolonged activation of the excitatory amino acid receptors may be involved in pathogenesis of brain damage in acute i...