1. functions of Iron
1.1. missed
2. places in the brain that have most iron
2.1. picture
3. Iron can be toxic
3.1. Iron-metabolism
3.1.1. Fe2+ form
3.1.1.1. picture
3.1.2. picture
4. Disorders
4.1. NBIA - syndromes
4.1.1. neurodegeneration with brain iron accumuluation
4.1.1.1. NBIA Type 1
4.1.1.1.1. PANK2 gene mutation
4.1.1.1.2. formerly: Hallervorden-Spatz disease
4.1.1.1.3. Panthotenate kinase associated neurodegeneration type 2
4.1.1.1.4. Picture
4.1.1.1.5. Madhavi et al 2004, movement disorders society movies
4.1.1.2. NBIA Type 2
4.1.1.2.1. INAD
4.1.1.2.2. ANDA (I)
4.1.1.2.3. ANDA (II)
4.1.1.3. Idiopathic form
4.1.1.3.1. Paisan-Ruiz et al 2009
4.1.1.4. Aceruloplasminemia
4.1.1.5. Neuroferritinopathy
4.1.1.5.1. MRI: eye of the tiger sign
4.1.1.5.2. Onset 3-5th decade
4.1.1.5.3. symptoms
4.1.1.5.4. Hereditary ferritinopathy
4.1.1.6. Kufor Rakeb disease
4.1.1.6.1. Park 9
4.1.1.6.2. Ramirez et al 2006
4.1.1.6.3. ATP13A2 mutations
4.1.1.6.4. picture
4.2. Neurodegenerative disease
5. Why does iron accumulate?
5.1. We don't know
5.2. Pantothenat kinase phosphorylation of cystein/pantethin
5.2.1. no phosphorylation
6. imaging
6.1. J. Med. Genetics 2009, Gregory et al.
6.1.1. Some indices to look at
6.1.2. hypo intensity in basal ganglia AND hyper intensity