Influence of a mutation of the calcium ATPase 2 (SERCA 2) gene in patients with Darier's disease on the central and peripheral nervous system

Objective: To investigate neurological manifestations in patients with Darier's disease Introduction: Darier's disease is an autosomal dominant skin disorder characterized by warty papules and plaques in the seborrheic area (central trunk, flexures, scalp, and forehead), palmoplantar pits, and nail abnormalities. ATP2A2, which encodes the sarcoplasmic reticulum calcium ATPase 2 (SERCA2) pump, has been identified as the defective gene in Darier's disease. SERCA2 belongs to a family of P-type membrane bound ATPase, which pumps calcium from the cytoplasm into reservoirs in the endoplasmic reticulum. Up to now neuro…