<unk>  results from abnormal brain iron accumulation. This iron accumulation is due to mutations in the FTL polypeptide, which is responsible for encoding proteins involved in iron metabolism.<unk>  is most commonly caused by a single insertion of the nucleotide adenine into the gene for L-chain ferritin which in turn, alters the carboxyl end of the entire protein chain. However, exact location of the insertion in the exon varies by family.<unk>  may also be caused by the insertion of two extra nucleotide bases. The insertion of bases into the L-chain ferritin gene causes the chain to lengthen and alter the sequence of the amino acids found in the gene, also known as a frameshift mutation. These mutations result in decreased iron-binding ability. The oxidative damage caused by increased iron leads to apoptosis, or programmed cell death. Accumulation of iron in the brain is extremely dangerous as excess iron catalyzes the formation of free radicals, which have damaging effects to the brain. The iron accumulation characteristic of<unk>  particularly affects the cerebellum, basal ganglia, and motor cortex regions of the brain.
Neuroferritinopathy
Aceruloplasminemia
Tauopathy
Synucleinopathy
Homeopathy
Sandhoff disease
Mitochondrial myopathy
Mitochondrial disease