Neuro degeneration with brain Iron accumulation

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Neuro degeneration with brain Iron accumulation by Mind Map: Neuro degeneration with brain Iron accumulation

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