부산대학교 도서관

A recent study published in the journal Brain: A Journal of Neurology found that variants in the PTPA gene may be a cause of juvenile-onset parkinsonism with intellectual disability. The researchers identified rare missense variants in the PTPA gene in six Parkinson's disease patients and two healthy controls. In silico variant predictions suggested that some of these variants may be pathogenic, but further research is needed to confirm their role in Parkinson's disease. The study also provides a table of detailed results for variant predictions in the PTPA gene. The authors suggest that PTPA missense mutations may not play a major role in typical forms of Parkinson's disease and highlight the importance of large-scale sequencing efforts to understand gene mutations in rare phenotypes. [Extracted from the article]