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).
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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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