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Huw R. Morris 2 Articles
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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
  • 2,874 View
  • 77 Download
  • 2 Web of Science
  • 3 Crossref
AbstractAbstract PDFSupplementary 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  
  • 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; : 1.     CrossRef
Article image
Automated Brainstem Segmentation Detects Differential Involvement in Atypical Parkinsonian Syndromes
Martina Bocchetta, Juan Eugenio Iglesias, Viorica Chelban, Edwin Jabbari, Ruth Lamb, Lucy L. Russell, Caroline V. Greaves, Mollie Neason, David M. Cash, David L. Thomas, Jason D. Warren, John Woodside, Henry Houlden, Huw R. Morris, Jonathan D. Rohrer
J Mov Disord. 2020;13(1):39-46.   Published online September 26, 2019
DOI: https://doi.org/10.14802/jmd.19030
  • 8,358 View
  • 248 Download
  • 16 Web of Science
  • 16 Crossref
AbstractAbstract PDFSupplementary Material
Objective
Brainstem segmentation has been useful in identifying potential imaging biomarkers for diagnosis and progression in atypical parkinsonian syndromes (APS). However, the majority of work has been performed using manual segmentation, which is time consuming for large cohorts.
Methods
We investigated brainstem involvement in APS using an automated method. We measured the volume of the medulla, pons, superior cerebellar peduncle (SCP) and midbrain from T1-weighted MRIs in 67 patients and 42 controls. Diagnoses were corticobasal syndrome (CBS, n = 14), multiple system atrophy (MSA, n = 16: 8 with parkinsonian syndrome, MSA-P; 8 with cerebellar syndrome, MSA-C), progressive supranuclear palsy with a Richardson’s syndrome (PSP-RS, n = 12), variant PSP (n = 18), and APS not otherwise specified (APS-NOS, n = 7).
Results
All brainstem regions were smaller in MSA-C (19–42% volume difference, p < 0.0005) and in both PSP groups (18–33%, p < 0.0005) than in controls. MSA-P showed lower volumes in all regions except the SCP (15–26%, p < 0.0005). The most affected region in MSA-C and MSA-P was the pons (42% and 26%, respectively), while the most affected regions in both the PSP-RS and variant PSP groups were the SCP (33% and 23%, respectively) and midbrain (26% and 24%, respectively). The brainstem was less affected in CBS, but nonetheless, the pons (14%, p < 0.0005), midbrain (14%, p < 0.0005) and medulla (10%, p = 0.001) were significantly smaller in CBS than in controls. The brainstem was unaffected in APS-NOS.
Conclusion
Automated methods can accurately quantify the involvement of brainstem structures in APS. This will be important in future trials with large patient numbers where manual segmentation is unfeasible.

Citations

Citations to this article as recorded by  
  • A Parkinson’s disease-related nuclei segmentation network based on CNN-Transformer interleaved encoder with feature fusion
    Hongyi Chen, Junyan Fu, Xiao Liu, Zhiji Zheng, Xiao Luo, Kun Zhou, Zhijian Xu, Daoying Geng
    Computerized Medical Imaging and Graphics.2024; 118: 102465.     CrossRef
  • Loss of brainstem white matter predicts onset and motor neuron symptoms in C9orf72 expansion carriers: a GENFI study
    Agnès Pérez-Millan, Sergi Borrego-Écija, John C. van Swieten, Lize Jiskoot, Fermin Moreno, Robert Laforce, Caroline Graff, Mario Masellis, Maria Carmela Tartaglia, James B. Rowe, Barbara Borroni, Elizabeth Finger, Matthis Synofzik, Daniela Galimberti, Rik
    Journal of Neurology.2023; 270(3): 1573.     CrossRef
  • Comparative validation of AI and non-AI methods in MRI volumetry to diagnose Parkinsonian syndromes
    Joomee Song, Juyoung Hahm, Jisoo Lee, Chae Yeon Lim, Myung Jin Chung, Jinyoung Youn, Jin Whan Cho, Jong Hyeon Ahn, Kyungsu Kim
    Scientific Reports.2023;[Epub]     CrossRef
  • Identification of the pathogenesis features of various phenotypes of multiple sclerosis based on the study of the morphological functional connectivity of subcortical gray matter structures
    A. G. Trufanov, A. Y. Polushin, E. A. Gorbunova, M. V. Lukin
    Russian Journal for Personalized Medicine.2023; 3(1): 27.     CrossRef
  • Structural MRI predicts clinical progression in presymptomatic genetic frontotemporal dementia: findings from the GENetic Frontotemporal dementia Initiative cohort
    Martina Bocchetta, Emily G Todd, Arabella Bouzigues, David M Cash, Jennifer M Nicholas, Rhian S Convery, Lucy L Russell, David L Thomas, Ian B Malone, Juan Eugenio Iglesias, John C van Swieten, Lize C Jiskoot, Harro Seelaar, Barbara Borroni, Daniela Galim
    Brain Communications.2023;[Epub]     CrossRef
  • Quantitative MRI protocol and decision model for a ‘one stop shop’ early-stage Parkinsonism diagnosis: Study design
    Samy Abo Seada, Anke W. van der Eerden, Agnita J.W. Boon, Juan A. Hernandez-Tamames
    NeuroImage: Clinical.2023; 39: 103506.     CrossRef
  • Neuroimaging correlates of brain injury in Wilson’s disease: a multimodal, whole-brain MRI study
    Samuel Shribman, Martina Bocchetta, Carole H Sudre, Julio Acosta-Cabronero, Maggie Burrows, Paul Cook, David L Thomas, Godfrey T Gillett, Emmanuel A Tsochatzis, Oliver Bandmann, Jonathan D Rohrer, Thomas T Warner
    Brain.2022; 145(1): 263.     CrossRef
  • Nuclear imaging in Parkinson's disease: The past, the present, and the future
    Haim Golan, Olga Volkov, Eli Shalom
    Journal of the Neurological Sciences.2022; 436: 120220.     CrossRef
  • Criteria-unfulfilled multiple system atrophy at an initial stage exhibits laterality of middle cerebellar peduncles
    Minori Furuta, Masayuki Sato, Setsuki Tsukagoshi, Yoshito Tsushima, Yoshio Ikeda
    Journal of the Neurological Sciences.2022; 438: 120281.     CrossRef
  • A data-driven model of brain volume changes in progressive supranuclear palsy
    W. J. Scotton, M. Bocchetta, E. Todd, D. M. Cash, N. Oxtoby, L. VandeVrede, H. Heuer, D. C. Alexander, J. B. Rowe, H. R. Morris, A. Boxer, J. D. Rohrer, P. A. Wijeratne
    Brain Communications.2022;[Epub]     CrossRef
  • Neuroimaging Correlates of Cognitive Deficits in Wilson's Disease
    Samuel Shribman, Maggie Burrows, Rhian Convery, Martina Bocchetta, Carole H. Sudre, Julio Acosta‐Cabronero, David L. Thomas, Godfrey T. Gillett, Emmanuel A. Tsochatzis, Oliver Bandmann, Jonathan D. Rohrer, Thomas T. Warner
    Movement Disorders.2022; 37(8): 1728.     CrossRef
  • Corticobasal syndrome and Parkinson’s disease at the beginning: asymmetrical patterns of MRI and Blink Reflex for early diagnosis
    Giulia Donzuso, Giorgia Sciacca, Antonina Luca, Calogero E. Cicero, Giovanni Mostile, Alessandra Nicoletti, Mario Zappia
    Journal of Neural Transmission.2022; 129(12): 1427.     CrossRef
  • Eye movements and association with regional brain atrophy in clinical subtypes of progressive supranuclear palsy
    Ji-Hyun Choi, Heejung Kim, Jung Hwan Shin, Jee-Young Lee, Han-Joon Kim, Jong-Min Kim, Beomseok Jeon
    Journal of Neurology.2021; 268(3): 967.     CrossRef
  • Artificial intelligence applied to neuroimaging data in Parkinsonian syndromes: Actuality and expectations
    Annalisa Vitale, Rossella Villa, Lorenzo Ugga, Valeria Romeo, Arnaldo Stanzione, Renato Cuocolo
    Mathematical Biosciences and Engineering.2021; 18(2): 1753.     CrossRef
  • Differential early subcortical involvement in genetic FTD within the GENFI cohort
    Martina Bocchetta, Emily G. Todd, Georgia Peakman, David M. Cash, Rhian S. Convery, Lucy L. Russell, David L. Thomas, Juan Eugenio Iglesias, John C. van Swieten, Lize C. Jiskoot, Harro Seelaar, Barbara Borroni, Daniela Galimberti, Raquel Sanchez-Valle, Ro
    NeuroImage: Clinical.2021; 30: 102646.     CrossRef
  • Quantitative MRI markers in Parkinson's disease and parkinsonian syndromes
    Germain Arribarat, Patrice Péran
    Current Opinion in Neurology.2020; 33(2): 222.     CrossRef

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