NEURODEGENERATIVE DISEASE, ANALYSIS OF A CLINICAL CASE

Abstract

Neurodegeneration with iron deposition in the brain or Hallervorden - Spatz disease is a very rare neurodegenerative disease accompanied by iron deposition in the basal ganglia (in the globus pallidus and substantia nigra). This autosomal recessively inherited disorder was first described in 1922 by Julius Hallevorden and Hugo Spatz . The frequency of the disease is on average 1-3 people per 1 million. Most patients, especially those with early onset of the disease, have mutations in the pantothekinase (PANK2) enzyme-encoded gene on chromosome 20p13. This enzyme plays a critical role in the biosynthesis of coenzyme-A. The enzyme defect leads to the accumulation of cysteine, which in the presence of iron (which means especially in the substantia nigra and basal ganglia) leads to an increase in free radicals and contributes to oxidative damage to the brain. The process as a whole results in the deposition of iron and neuromelanin .