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Loss-of-function SMPD1 gene variant in Progressive Supranuclear Palsy-Richardson Syndrome patients of Chinese ancestry

Lim, Shen-Yang; Tan, Ai Huey; Foo, Jia Nee; Tan, Yi Jayne; Chew, Elaine Gy; Annuar, Azlina Ahmad; Closas, Alfand Marl Dy; ... Ng, Adeline Sl; + view all (2024) Loss-of-function SMPD1 gene variant in Progressive Supranuclear Palsy-Richardson Syndrome patients of Chinese ancestry. Journal of Movement Disorders 10.14802/jmd.24009. (In press). Green open access

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Abstract

Lysosomal dysfunction plays an important role in neurodegenerative diseases, including Parkinson's disease (PD) and possibly also Parkinson-plus syndromes such as progressive supranuclear palsy (PSP). This is exemplified by the involvement of the GBA1 gene, which results in a deficiency of the lysosomal enzyme glucocerebrosidase, and is currently the most frequently identified genetic factor underlying PD worldwide. Pathogenic variants in the SMPD1 gene are a recessive cause of Niemann-Pick disease type A and B. Here, we provide the first report on an association between a loss-of-function SMPD1 gene variant present in heterozygous state (p.Pro332Arg/p.P332R, which is known to result in reduced lysosomal acid sphingomyelinase activity), with PSP-Richardson syndrome in three unrelated patients of Chinese ancestry.

Type: Article
Title: Loss-of-function SMPD1 gene variant in Progressive Supranuclear Palsy-Richardson Syndrome patients of Chinese ancestry
Location: Korea (South)
Open access status: An open access version is available from UCL Discovery
DOI: 10.14802/jmd.24009
Publisher version: http://dx.doi.org/10.14802/jmd.24009
Language: English
Additional information: cc This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (https://creativecommons.org/ licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
Keywords: Acid sphingomyelinase, GBA1, Genetics, Lysosomal, Progressive supranuclear palsy, SMPD1, Sphingolipid
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences
URI: https://discovery.ucl.ac.uk/id/eprint/10190601
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