A novel SLC30A10 missense variant associated with parkinsonism and dystonia without hypermanganesemia

Variants in the SLC30A10 gene were initially described in 2012 and were associated with an autosomal-recessive disorder characterized by hypermanganesemia, hepatic cirrhosis, extrapyramidal motor disorder and polycythemia [1]. Manganese (Mn) toxicity had been long associated with basal ganglia dysfunction, neurobehavioral disturbances and extrapyramidal symptoms. [2] SLC30A10 is thought to be a Mn transporter in humans that, when defective, causes Mn accumulation in liver and brain. [3] We report on two adult siblings with homozygous SLC30A10 missense variants presenting with extrapyramidal symptoms and normal Mn levels in serum.

from Journal of the Neurological Sciences https://ift.tt/3aydInH