Iron chelation has been introduced as a new therapeutic concept for the treatment of
neurodegenerative diseases with features of iron overload. At difference with iron chelators …

The syndromes of neurodegeneration with brain iron accumulation (NBIA) encompass a
group of invalidating and progressive rare diseases that share the abnormal accumulation of …

Juvenile parkinsonism is arbitrarily defined as parkinsonian symptoms and signs presenting
prior to 21 years of age. Levodopa-responsive juvenile parkinsonism that is consistent with …

Neurodegeneration with brain iron accumulation (NBIA) is a set of neurodegenerative
disorders, which includes very rare monogenetic diseases. They are heterogeneous in …

Mitochondrial diseases are a broad, genetically heterogeneous class of metabolic disorders
characterized by deficits in oxidative phosphorylation (OXPHOS). Primary mitochondrial …

Coenzyme A (CoA) is an essential cofactor in all living organisms. It is involved in a large
number of biochemical processes functioning either as an activator of molecules with …

Coenzyme A (CoA) is a vital and ubiquitous cofactor required in a vast number of enzymatic
reactions and cellular processes. To date, four rare human inborn errors of CoA biosynthesis …

Two inborn errors of coenzyme A (CoA) metabolism are responsible for distinct forms of
neurodegeneration with brain iron accumulation (NBIA), a heterogeneous group of …

Pontocerebellar hypoplasia (PCH) is a heterogeneous neurodegenerative disorder with a
prenatal onset. Using whole-exome sequencing, we identified variants in the gene …

Mutations in Pantothenate kinase 2 and Coenzyme A (CoA) synthase (COASY), genes
involved in CoA biosynthesis, are associated with rare neurodegenerative disorders with …