Journal of Movement Disorders

Letter to the editor

Cerebellar Ataxia Due to FGF14 GAA Repeat Expansion: First Southeast Asian Case and Novel Neuroimaging Features: Akmal Mukhlis Abdul Sahak, Ai Huey Tan, Norlisah Ramli, Yi Wen Tay, Lei Cheng Lit, Jun Ping Chua, Roberta La Piana, David Pellerin, Shen-Yang Lim; J Mov Disord. 2025;18(4):382-384. Published online August 1, 2025; DOI: https://doi.org/10.14802/jmd.25163

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“Subthreshold” Expansions in Individuals With Otherwise-Typical Clinicoradiological Features of GAA-FGF14-Related Cerebellar Ataxia (SCA27B)
Yuan Ye Beh, Roberta La Piana, Yi Wen Tay, Jun Ping Chua, Rose Izura Abdul Hamid, Jeffrey Wei Yang Tee, Andrew Leslie Lee, Akmal Mukhlis Abdul Sahak, Jie Ping Schee, Khean Jin Goh, Pablo Iruzubieta, Ai Huey Tan, David Pellerin, Shen-Yang Lim
Journal of Movement Disorders.2026; 19(2): 228. CrossRef

Case Report

Loss-of-Function Variant in the SMPD1 Gene in Progressive Supranuclear Palsy-Richardson Syndrome Patients of Chinese Ancestry: Shen-Yang Lim, Ai Huey Tan, Jia Nee Foo, Yi Jayne Tan, Elaine GY Chew, Azlina Ahmad Annuar, Alfand Marl Dy Closas, Azalea Pajo, Jia Lun Lim, Yi Wen Tay, Anis Nadhirah, Jia Wei Hor, Tzi Shin Toh, Lei Cheng Lit, Jannah Zulkefli, Su Juen Ngim, Weng Khong Lim, Huw R. Morris, Eng-King Tan, Adeline SL Ng; J Mov Disord. 2024;17(2):213-217. Published online January 31, 2024; DOI: https://doi.org/10.14802/jmd.24009

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Abstract PDF Supplementary Material

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.

Citations

Citations to this article as recorded by

The Genetic Background of the Immunological and Inflammatory Aspects of Progressive Supranuclear Palsy
Piotr Alster, Natalia Madetko-Alster
International Journal of Molecular Sciences.2025; 26(9): 3927. CrossRef
Expert commentary on “A case report of palatal tremor in progressive supranuclear palsy”
Shen-Yang Lim, Anthony E. Lang
Parkinsonism & Related Disorders.2025; 136: 107873. CrossRef
Déficit en sphingomyélinase acide (maladie de Niemann-Pick) : quand y penser ?
Martin Michaud, Wladimir Mauhin, Thomas Villeneuve, Olivier Lidove
La Revue de Médecine Interne.2025; 46(11): 654. CrossRef
Parkinson’s Disease is Predominantly a Genetic Disease
Shen-Yang Lim, Christine Klein
Journal of Parkinson’s Disease.2024; 14(3): 467. CrossRef
Identification of Genetic Variants in Progressive Supranuclear Palsy in Southeast Asia
Adeline Su Lyn Ng, Ai Huey Tan, Yi Jayne Tan, Jia Lun Lim, Michelle Mulan Lian, Alfand Marl Dy Closas, Azlina Ahmad‐Annuar, Shanthi Viswanathan, Yuen Kang Chia, Jia Nee Foo, Weng Khong Lim, Eng‐King Tan, Shen‐Yang Lim
Movement Disorders.2024; 39(10): 1829. CrossRef
Genetic-based diagnostics of Parkinson’s disease and other Parkinsonian syndromes
Emma N. Somerville, Ziv Gan-Or
Expert Review of Molecular Diagnostics.2024; 24(12): 1111. CrossRef

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