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Long-Term Outcomes of Genetic Parkinson’s Disease
Jan O. Aasly 대한파킨슨병및이상운동질환학회 2020 Journal Of Movement Disorders Vol.13 No.2
Parkinson’s disease (PD) is a progressive neurodegenerative disorder that affects 1–2% of people by the age of 70 years. Age isthe most important risk factor, and most cases are sporadic without any known environmental or genetic causes. Since the late1990s, mutations in the genes SNCA, PRKN, LRRK2, PINK1, DJ-1, VPS35, and GBA have been shown to be important risk factorsfor PD. In addition, common variants with small effect sizes are now recognized to modulate the risk for PD. Most studiesin genetic PD have focused on finding new genes, but few have studied the long-term outcome of patients with the specific geneticPD forms. Patients with known genetic PD have now been followed for more than 20 years, and we see that they may havedistinct and different prognoses. New therapeutic possibilities are emerging based on the genetic cause underlying the disease. Future medication may be based on the pathophysiology individualized to the patient’s genetic background. The challenge is tofind the biological consequences of different genetic variants. In this review, the clinical patterns and long-term prognoses of themost common genetic PD variants are presented.
Increased Mortality in Young-Onset Parkinson’s Disease
Eldbjørg Hustad,Tor Åge Myklebust,Sasha Gulati,Jan O. Aasly 대한파킨슨병및이상운동질환학회 2021 Journal Of Movement Disorders Vol.14 No.3
Few studies have followed Parkinson’s disease (PD) patients from the time of diagnosis to the date of death. This study compared mortality in the Trondheim PD cohort to the general population, investigated causes of death and analyzed the associations between mortality and age at disease onset (AAO) and cognitive decline defined as Montreal Cognitive Assessment (MoCA) score below 26.