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Title: Identifying genes in Parkinson’s disease : state of the art
Authors: Chew, Elaine Guo Yan
Foo, Jia Nee
Tan, Eng-King
Keywords: Science::Biological sciences::Genetics
Science::Biological sciences::Human anatomy and physiology::Neurobiology
Issue Date: 2018
Source: Chew, E. G. Y., Foo, J. N., & Tan, E.-K. (2018). Identifying genes in Parkinson disease : state of the art. The Medical Journal of Australia, 208(9), 381-382. doi:10.5694/mja17.01254
Journal: The Medical Journal of Australia
Abstract: Parkinson disease (PD) is a common neurodegenerative disorder which manifests as 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.
ISSN: 0025-729X
DOI: 10.5694/mja17.01254
Rights: © 2018 AMPCo Pty Ltd. All rights reserved. This paper was published in The Medical Journal of Australia and is made available with permission of AMPCo Pty Ltd.
Fulltext Permission: open
Fulltext Availability: With Fulltext
Appears in Collections:LKCMedicine Journal Articles

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