Dopaminergic treatments for autistic-like behaviour in lysosomal storage disorders: Preclinical and clinical evidence
Maria De Risi, Lorenzo Cusimano, Xabier Bujanda Cundin, Mariateresa Pizzo, Simona Fecarotta, Giancarlo Parenti, Elvira De Leonibus · FENS Forum 2024
Mucopolysaccharidosis IIIA (MPS-IIIA) is a severe inborn error of metabolism caused by mutations in the sulfamidase gene (SGSH), which encodes a lysosomal enzyme involved in the metabolism of heparan sulfate (HS). Defective sulfamidase activity leads to the accumulation of HS within lysosomes, resulting in lysosomal dysfunction and ultimately leading to neurodegeneration and dementia in affected children. However, preceding dementia, individuals often exhibit severe and debilitating autistic-like behaviors, including self-injury, stereotypic behaviors, and social impairment. These autistic sym
ePoster · Neuroscience