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Nine Hereditary Movement Disorders First Described in Asia: Their History and Evolution
Priya Jagota, Yoshikazu Ugawa, Zakiyah Aldaajani, Norlinah Mohamed Ibrahim, Hiroyuki Ishiura, Yoshiko Nomura, Shoji Tsuji, Cid Diesta, Nobutaka Hattori, Osamu Onodera, Saeed Bohlega, Amir Al-Din, Shen-Yang Lim, Jee-Young Lee, Beomseok Jeon, Pramod Kumar Pal, Huifang Shang, Shinsuke Fujioka, Prashanth Lingappa Kukkle, Onanong Phokaewvarangkul, Chin-Hsien Lin, Cholpon Shambetova, Roongroj Bhidayasiri
J Mov Disord. 2023;16(3):231-247.   Published online June 13, 2023
DOI: https://doi.org/10.14802/jmd.23065
  • 3,429 View
  • 245 Download
AbstractAbstract PDFSupplementary Material
Clinical case studies and reporting are important to the discovery of new disorders and the advancement of medical sciences. Both clinicians and basic scientists play equally important roles leading to treatment discoveries for both cures and symptoms. In the field of movement disorders, exceptional observation of patients from clinicians is imperative, not just for phenomenology but also for the variable occurrences of these disorders, along with other signs and symptoms, throughout the day and the disease course. The Movement Disorders in Asia Task Force (TF) was formed to help enhance and promote collaboration and research on movement disorders within the region. As a start, the TF has reviewed the original studies of the movement disorders that were preliminarily described in the region. These include nine disorders that were first described in Asia: Segawa disease, PARK-Parkin, X-linked dystonia-parkinsonism, dentatorubral-pallidoluysian atrophy, Woodhouse-Sakati syndrome, benign adult familial myoclonic epilepsy, Kufor-Rakeb disease, tremulous dystonia associated with mutation of the calmodulin-binding transcription activator 2 gene, and paroxysmal kinesigenic dyskinesia. We hope that the information provided will honor the original researchers and help us learn and understand how earlier neurologists and basic scientists together discovered new disorders and made advances in the field, which impact us all to this day.
Historical and More Common Nongenetic Movement Disorders From Asia
Norlinah Mohamed Ibrahim, Priya Jagota, Pramod Kumar Pal, Roongroj Bhidayasiri, Shen-Yang Lim, Yoshikazu Ugawa, Zakiyah Aldaajani, Beomseok Jeon, Shinsuke Fujioka, Jee-Young Lee, Prashanth Lingappa Kukkle, Huifang Shang, Onanong Phokaewvarangkul, Cid Diesta, Cholpon Shambetova, Chin-Hsien Lin
J Mov Disord. 2023;16(3):248-260.   Published online June 9, 2023
DOI: https://doi.org/10.14802/jmd.22224
  • 2,443 View
  • 134 Download
  • 1 Web of Science
  • 1 Crossref
AbstractAbstract PDFSupplementary Material
Nongenetic movement disorders are common throughout the world. The movement disorders encountered may vary depending on the prevalence of certain disorders across various geographical regions. In this paper, we review historical and more common nongenetic movement disorders in Asia. The underlying causes of these movement disorders are diverse and include, among others, nutritional deficiencies, toxic and metabolic causes, and cultural Latah syndrome, contributed by geographical, economic, and cultural differences across Asia. The industrial revolution in Japan and Korea has led to diseases related to environmental toxin poisoning, such as Minamata disease and β-fluoroethyl acetate-associated cerebellar degeneration, respectively, while religious dietary restriction in the Indian subcontinent has led to infantile tremor syndrome related to vitamin B12 deficiency. In this review, we identify the salient features and key contributing factors in the development of these disorders.

Citations

Citations to this article as recorded by  
  • Diabetic striatopathy and other acute onset de novo movement disorders in hyperglycemia
    Subhankar Chatterjee, Ritwik Ghosh, Payel Biswas, Shambaditya Das, Samya Sengupta, Souvik Dubey, Biman Kanti Ray, Alak Pandit, Julián Benito-León, Rana Bhattacharjee
    Diabetes & Metabolic Syndrome: Clinical Research & Reviews.2024; 18(3): 102997.     CrossRef
Perry Disease: Concept of a New Disease and Clinical Diagnostic Criteria
Yoshio Tsuboi, Takayasu Mishima, Shinsuke Fujioka
J Mov Disord. 2021;14(1):1-9.   Published online September 21, 2020
DOI: https://doi.org/10.14802/jmd.20060
  • 8,546 View
  • 398 Download
  • 13 Web of Science
  • 13 Crossref
AbstractAbstract PDF
Perry disease is a hereditary neurodegenerative disease with autosomal dominant inheritance. It is characterized by parkinsonism, psychiatric symptoms, unexpected weight loss, central hypoventilation, and transactive-response DNA-binding protein of 43kD (TDP-43) aggregation in the brain. In 2009, Perry disease was found to be caused by dynactin I gene (DCTN1), which encodes dynactin subunit p150 on chromosome 2p, in patients with the disease. The dynactin complex is a motor protein that is associated with axonal transport. Presently, at least 8 mutations and 22 families have been reported; other than the “classic” syndrome, distinct phenotypes are recognized. The neuropathology of Perry disease reveals severe degeneration in the substantia nigra and TDP-43 inclusions in the basal ganglia and brain stem. How dysfunction of the dynactin molecule is related to TDP-43 pathology in Perry disease is important to elucidate the pathological mechanism and develop new treatment.

Citations

Citations to this article as recorded by  
  • PSP-Richardson syndrome mimics: An overview and pragmatic approach
    J. Necpál, M. Borsek, B. Jeleňová
    Revue Neurologique.2024; 180(1-2): 12.     CrossRef
  • Perry Disease: Bench to Bedside Circulation and a Team Approach
    Takayasu Mishima, Junichi Yuasa-Kawada, Shinsuke Fujioka, Yoshio Tsuboi
    Biomedicines.2024; 12(1): 113.     CrossRef
  • Dysregulation of stress granule dynamics by DCTN1 deficiency exacerbates TDP-43 pathology in Drosophila models of ALS/FTD
    Tetsuhiro Ueda, Toshihide Takeuchi, Nobuhiro Fujikake, Mari Suzuki, Eiko N. Minakawa, Morio Ueyama, Yuzo Fujino, Nobuyuki Kimura, Seiichi Nagano, Akio Yokoseki, Osamu Onodera, Hideki Mochizuki, Toshiki Mizuno, Keiji Wada, Yoshitaka Nagai
    Acta Neuropathologica Communications.2024;[Epub]     CrossRef
  • Extubation failure due to atypical parkinsonism with negligible motor and variable non-motor symptoms associated with a variant of DCTN1
    Hidetada Yamada, Shuichiro Neshige, Hiroyuki Morino, Hirofumi Maruyama
    Internal and Emergency Medicine.2023; 18(1): 329.     CrossRef
  • Deficiency of Perry syndrome-associated p150Glued in midbrain dopaminergic neurons leads to progressive neurodegeneration and endoplasmic reticulum abnormalities
    Jia Yu, Xuan Yang, Jiayin Zheng, Carmelo Sgobio, Lixin Sun, Huaibin Cai
    npj Parkinson's Disease.2023;[Epub]     CrossRef
  • Pathogenic Aspects and Therapeutic Avenues of Autophagy in Parkinson’s Disease
    Rémi Kinet, Benjamin Dehay
    Cells.2023; 12(4): 621.     CrossRef
  • The genetic spectrum of a cohort of patients clinically diagnosed as Parkinson’s disease in mainland China
    Yi-Min Sun, Xin-Yue Zhou, Xiao-Niu Liang, Jin-Ran Lin, Yi-Dan Xu, Chen Chen, Si-Di Wei, Qi-Si Chen, Feng-Tao Liu, Jue Zhao, Yi-Lin Tang, Bo Shen, Lin-Hua Gan, Boxun Lu, Zheng-Tong Ding, Yu An, Jian-Jun Wu, Jian Wang
    npj Parkinson's Disease.2023;[Epub]     CrossRef
  • Perry syndrome: Novel DCTN1 mutation in a large kindred and first observation of prodromal disease
    Jarosław Dulski, Shunsuke Koga, Mercedes Prudencio, Philip W. Tipton, Shan Ali, Audrey J. Strongosky, Juliana H. Rose, Zoe A. Parrales, Judith A. Dunmore, Karen Jansen-West, Leonard Petrucelli, Dennis W. Dickson, Zbigniew K. Wszolek
    Parkinsonism & Related Disorders.2023; 112: 105481.     CrossRef
  • Perry Disease: Expanding the Genetic Basis
    Jarosław Dulski, Shunsuke Koga, Paweł P. Liberski, Emilia J. Sitek, Ankur A. Butala, Jarosław Sławek, Dennis W. Dickson, Zbigniew K. Wszolek
    Movement Disorders Clinical Practice.2023; 10(7): 1136.     CrossRef
  • Monogenic Parkinson’s Disease: Genotype, Phenotype, Pathophysiology, and Genetic Testing
    Fangzhi Jia, Avi Fellner, Kishore Raj Kumar
    Genes.2022; 13(3): 471.     CrossRef
  • Perry disease in an Argentine family due to the DCTN1 p.G67D variant
    Emanuel Silva, Tatiana Itzcovich, Matías Niikado, Alejandro Caride, Elmer Fernández, Juan Carlos Vázquez, Leonardo Romorini, Mariela Marazita, Gustavo Sevlever, Horacio Martinetto, Ezequiel I. Surace
    Parkinsonism & Related Disorders.2022; 97: 63.     CrossRef
  • Clinical, pathological and genetic characteristics of Perry disease—new cases and literature review
    Jarosław Dulski, Catalina Cerquera‐Cleves, Lukasz Milanowski, Alexa Kidd, Emilia J. Sitek, Audrey Strongosky, Ana María Vanegas Monroy, Dennis W. Dickson, Owen A. Ross, Jolanta Pentela‐Nowicka, Jarosław Sławek, Zbigniew K. Wszolek
    European Journal of Neurology.2021; 28(12): 4010.     CrossRef
  • Behavioral profile in a Dctn1G71A knock-in mouse model of Perry disease
    Manami Deshimaru, Takayasu Mishima, Takuya Watanabe, Kaori Kubota, Mana Hosoi, Mariko Kinoshita-Kawada, Junichi Yuasa-Kawada, Maiko Ikeda, Masayoshi Mori, Yusuke Murata, Takaya Abe, Munechika Enjoji, Hiroshi Kiyonari, Shohta Kodama, Shinsuke Fujioka, Kats
    Neuroscience Letters.2021; 764: 136234.     CrossRef

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