Identifying genes in Parkinson’s disease : state of the art

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...

Full description

Saved in:
Bibliographic Details
Main Authors: Chew, Elaine Guo Yan, Foo, Jia Nee, Tan, Eng-King
Other Authors: Lee Kong Chian School of Medicine (LKCMedicine)
Format: Article
Language:English
Published: 2020
Subjects:
Online Access:https://hdl.handle.net/10356/138823
Tags: Add Tag
No Tags, Be the first to tag this record!
Institution: Nanyang Technological University
Language: English
id sg-ntu-dr.10356-138823
record_format dspace
spelling sg-ntu-dr.10356-1388232020-11-01T05:32:10Z Identifying genes in Parkinson’s disease : state of the art Chew, Elaine Guo Yan Foo, Jia Nee Tan, Eng-King Lee Kong Chian School of Medicine (LKCMedicine) Science::Biological sciences::Genetics Science::Biological sciences::Human anatomy and physiology::Neurobiology Medical Genetics Nervous System Diseases 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. NRF (Natl Research Foundation, S’pore) NMRC (Natl Medical Research Council, S’pore) Accepted version 2020-05-13T03:41:54Z 2020-05-13T03:41:54Z 2018 Journal Article 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 0025-729X https://hdl.handle.net/10356/138823 10.5694/mja17.01254 9 208 381 382 en The Medical Journal of Australia © 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. application/pdf
institution Nanyang Technological University
building NTU Library
continent Asia
country Singapore
Singapore
content_provider NTU Library
collection DR-NTU
language English
topic Science::Biological sciences::Genetics
Science::Biological sciences::Human anatomy and physiology::Neurobiology
Medical Genetics
Nervous System Diseases
spellingShingle Science::Biological sciences::Genetics
Science::Biological sciences::Human anatomy and physiology::Neurobiology
Medical Genetics
Nervous System Diseases
Chew, Elaine Guo Yan
Foo, Jia Nee
Tan, Eng-King
Identifying genes in Parkinson’s disease : state of the art
description 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.
author2 Lee Kong Chian School of Medicine (LKCMedicine)
author_facet Lee Kong Chian School of Medicine (LKCMedicine)
Chew, Elaine Guo Yan
Foo, Jia Nee
Tan, Eng-King
format Article
author Chew, Elaine Guo Yan
Foo, Jia Nee
Tan, Eng-King
author_sort Chew, Elaine Guo Yan
title Identifying genes in Parkinson’s disease : state of the art
title_short Identifying genes in Parkinson’s disease : state of the art
title_full Identifying genes in Parkinson’s disease : state of the art
title_fullStr Identifying genes in Parkinson’s disease : state of the art
title_full_unstemmed Identifying genes in Parkinson’s disease : state of the art
title_sort identifying genes in parkinson’s disease : state of the art
publishDate 2020
url https://hdl.handle.net/10356/138823
_version_ 1683494562361769984