Abstract
Rare neurometabolic and neurodegenerative diseases of the brain include a wide diagnostic scale of diseases which generally have a serious, often sinister course. Causal treatment is currently known for only some of them and if it exists, it is usually highly expensive.
In some of the diagnostic groups it is limited to initial stages of the disease, which makes early diagnostics and multidisciplinary cooperation necessary, including clinical genetics and regular patient monitoring in specialised centres. In this review we focus on metabolic diseases marked by depositing metal molecules, lysosomal storage diseases, Huntington’s disease, rare dystonic syndromes, motoric neuron disorders, spinocerebellar ataxias in both childhood and adulthood and some rare neuro-developmental disorders.