Affiliations 

  • 1 Division of Neurology, Department of Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia
  • 2 Lee Kong Chian School of Medicine, Nanyang Technological University Singapore, Singapore
  • 3 Department of Neurology, National Neuroscience Institute, Singapore
  • 4 Department of Biomedical Science, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia
  • 5 Metro Davao Medical and Research Center, Health Science and Wellness Center, Davao City, Philippines
  • 6 Department of Clinical Epidemiology, University of the Philippines - College of Medicine, Manila, Philippines
  • 7 Department of Physiology, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia
  • 8 The Mah Pooi Soo & Tan Chin Nam Centre for Parkinson's & Related Disorders, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia
  • 9 SingHealth Duke-NUS Institute of Precision Medicine, Singapore
  • 10 Department of Clinical and Movement Neurosciences, University College London, Institute of Neurology, London, UK
J Mov Disord, 2024 Apr;17(2):213-217.
PMID: 38291878 DOI: 10.14802/jmd.24009

Abstract

Lysosomal dysfunction plays an important role in neurodegenerative diseases, including Parkinson's disease (PD) and possibly Parkinson-plus syndromes such as progressive supranuclear palsy (PSP). This role is exemplified by the involvement of variants in the GBA1 gene, which results in a deficiency of the lysosomal enzyme glucocerebrosidase and is the most frequently identified genetic factor underlying PD worldwide. Pathogenic variants in the SMPD1 gene are a recessive cause of Niemann-Pick disease types A and B. Here, we provide the first report on an association between a loss-of-function variant in the SMPD1 gene present in a 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.

* Title and MeSH Headings from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.