S-Adenosyl-L-methionine treatment provides neuroprotection in a NPC type C mice model through the restoration of membrane fluidity and mitochondrial GSH replenishment

Trabajo presentado en el International Lipid Signaling and Oxidative Stress in Pathology Symposium, celebrado en Barcelona (España), los días 1 y 2 de diciembre de 2022
Niemann-Pick disease type C (NPC) is a slowly progressive lysosomal disorder whose principal manifestations are age dependent. The manifestations in the perinatal period and infancy are predominantly visceral, with hepatosplenomegaly, jaundice, and (in some instances) pulmonary infiltrates. From late infancy onward, the presentation is dominated by neurologic manifestations. The youngest children may present with hypotonia and developmental delay, with the subsequent emergence of ataxia, dysarthria, dysphagia, and, in some individuals, epileptic seizures, dystonia, and gelastic cataplexy. Although cognitive impairment may be subtle at first, it eventually becomes apparent that affected individuals have a progressive dementia