Looking back the importance of genetics in a patient with Parkinson disease and deep brain stimulation

Parkinsonism & Related Disorders(2022)

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摘要
We read with interest the report by Neri and colleagues in Parkinsonism and Related Disorders about a patient with PD carrying a heterozygous GBA p.L444P variant and a novel likely pathogenic heterozygous frameshift deletion with premature truncation in lipoprotein receptor-related protein 10 (LRP10). An akinetic-rigid syndrome and depression began at the age of 43. He later developed motor complications, thus receiving bilateral STN-DBS at the age of 50. However, cognitive decline and apathy emerged 2 years after surgery [ [1] Neri M. Braccia A. Panteghini C. Garavaglia B. Gualandi F. Cavallo M.A. Scerrati A. Ferlini A. Sensi M. Parkinson's disease-dementia in trans LRP10 and GBA variants: response to deep brain stimulation. Park. Relat. Disord. 2021; 92: 72-75https://doi.org/10.1016/j.parkreldis.2021.10.020 Abstract Full Text Full Text PDF PubMed Scopus (2) Google Scholar ]. We would like to highlight key questions from this case.
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关键词
Parkinson disease,Deep brain stimulation,Levodopa,Apomorphine,GBA,LRP10
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