Neurológia pre prax 2/2022
Treatable CNS disorders with brain metal accumulation
Some neurological diseases caused by accumulation of iron in CNS are treatable. If the initiation of treatment is early, neurological symptoms may be reversibile. The best results are achieved when the treatment is started before the manifestation of neurological symptoms. In this chapter we summarize the clinical features, diagnosis and treatment strategies in treatable diseases with the accumulation of copper (Wilson’s disease), calcium (hypoparathyroidism), manganese (SLC30A10 and SLC39A14 transporter deficiency) and iron (aceruloplasminaemia).
Keywords: Wilson disease, neurodegeneration with brain iron accumulation, manganism, hypoparathyroidism
