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Identifying genes in Parkinson disease: state of the art

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381 P bradykinesia, movement rigidity and tremors in affected individuals. Our understanding of the genetic basis of PD has been steadily increasing since the initial report of a-synuclein mutations two… Click to show full abstract

381 P bradykinesia, movement rigidity and tremors in affected individuals. Our understanding of the genetic basis of PD has been steadily increasing since the initial report of a-synuclein mutations two decades ago. Mutations implicated in familial PD fully account for monogenic inheritance and point to potential functional mechanisms underlying PD. However, most sporadic PD cannot be accounted for by known familial PD genes, with the late-onset nature of PD making further linkage studies challenging. Genome-wide association and whole exome sequencing studies have implicated a growing list of mutations and genes in PD, which are expected to provide new insights into potential pathways involved in PD pathogenicity.

Keywords: genes parkinson; disease state; identifying genes; parkinson disease; state art

Journal Title: Medical Journal of Australia
Year Published: 2018

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