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Case Report Loss-of-function SMPD1 gene variant in Progressive Supranuclear Palsy-Richardson Syndrome patients of Chinese ancestry
Shen-Yang Lim1,2corresp_icon, Ai Huey Tan1,2, Jia Nee Foo3,4, Yi Jayne Tan5, Elaine GY Chew3,4, Azlina Ahmad Annuar6, Alfand Marl Dy Closas7, Azalea Pajo8, Jia Lun Lim6, Yi Wen Tay6, Anis Nadhirah9, Jia Wei Hor2, Tzi Shin Toh2, Lei Cheng Lit9, Jannah Zulkefli2, Su Juen Ngim1, Weng Khong Lim10,11,12,13, Huw R. Morris14, Eng-King Tan5, Adeline SL Ng5corresp_icon

DOI: [Accepted]
Published online: January 31, 2024
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1Division of Neurology, Department of Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia
2The Mah Pooi Soo & Tan Chin Nam Centre for Parkinson’s & Related Disorders, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia
3Lee Kong Chian School of Medicine, Nanyang Technological University Singapore, Singapore
4Laboratory of Neurogenetics, Genome Institute of Singapore, A*STAR, Singapore
5Department of Neurology, National Neuroscience Institute, Singapore
6Department of Biomedical Science, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia
7Metro Davao Medical and Research Center, Health Science and Wellness Center, Davao City, Philippines
8University of the Philippines - College of Medicine, Department of Clinical Epidemiology, Manila, Philippines
9Department of Physiology, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia
10SingHealth Duke-NUS Institute of Precision Medicine, Singapore
11SingHealth Duke-NUS Genomic Medicine Centre, Singapore
12Cancer & Stem Cell Biology Program, Duke-NUS Medical School, Singapore
13Laboratory of Genome Variation Analytics, Genome Institute of Singapore, Agency for Science, Technology and Research, Singapore
14Department of Clinical and Movement Neurosciences, University College London, Institute of Neurology, London, United Kingdom
Corresponding author:  Shen-Yang Lim, Tel: +60-3-79492891, Fax: +60-3-7949 4613, 
Adeline SL Ng, Tel: +65 6357 7171, Fax: +65 6357 7103, 
Received: 7 January 2024   • Revised: 26 January 2024   • Accepted: 30 January 2024

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.

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JMD : Journal of Movement Disorders