Parkinson’s disease (PD) is a neurodegenerative disorder primarily characterized by the loss of dopaminergic neurons, resulting in motor symptoms such as tremors and muscle rigidity. The precise pathophysiology remains unclear, and no curative treatment has been established to date. In the brain, the formation of Lewy bodies, which are abnormal aggregates of a protein called α-synuclein, is associated with PD and other neurodegenerative disorders such as Lewy body dementia. Glucocerebrosidase, a lysosomal enzyme responsible for the degradation of glucosylceramide, is encoded by the GBA1 gene. Mutations in GBA1 have been identified as genetic risk factors for PD and are thought to contribute to α-synuclein accumulation [1].

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Parkinson’s Disease

  • Akira Minami,
  • Hideyuki Takeuchi

摘要

Parkinson’s disease (PD) is a neurodegenerative disorder primarily characterized by the loss of dopaminergic neurons, resulting in motor symptoms such as tremors and muscle rigidity. The precise pathophysiology remains unclear, and no curative treatment has been established to date. In the brain, the formation of Lewy bodies, which are abnormal aggregates of a protein called α-synuclein, is associated with PD and other neurodegenerative disorders such as Lewy body dementia. Glucocerebrosidase, a lysosomal enzyme responsible for the degradation of glucosylceramide, is encoded by the GBA1 gene. Mutations in GBA1 have been identified as genetic risk factors for PD and are thought to contribute to α-synuclein accumulation [1].