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Definition, diagnosis and classification of infection-related movement disorders: Consensus proposal

Desai S, Abrahim N, Garg D, Yadav R, Iacono D, Ugawa Y, et al.

Parkinsonism Relat Disord, 2024 Apr 30.
PMID: 38705765 DOI: 10.1016/j.parkreldis.2024.106988

BACKGROUND: Infection-related movement disorders (IRMD) present a complex diagnostic challenge due to the broad phenotypic spectrum, the variety of possible infectious aetiologies, and the complicated underlying mechanisms. Yet, a comprehensive framework for classifying IRMD is lacking.
METHODS: An international consensus panel under the directives of the Movement Disorders Society Infection-Related Movement Disorders Study Group developed a comprehensive definition and a consensus classification system. Case scenarios were used for validation.
RESULTS: A definition for IRMD and a two-axis-based classification system consisting of six descriptors are proposed, intended as tools for researchers and clinicians. Collected information on clinical characteristics, investigational findings, the infectious organism and presumed pathogenesis facilitate the evaluation of diagnostic certainty.
CONCLUSION: The proposed framework will serve for optimised diagnostic algorithms, systematic aggregation of informative datasets across studies, and ultimately improved care and outcome of patients with IRMDs.
Fulltext Historical and More Common Nongenetic Movement Disorders From Asia

Ibrahim NM, Jagota P, Pal PK, Bhidayasiri R, Lim SY, Ugawa Y, et al.

J Mov Disord, 2023 Sep;16(3):248-260.
PMID: 37291830 DOI: 10.14802/jmd.22224

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.
Fulltext Genetic Movement Disorders Commonly Seen in Asians

Jagota P, Lim SY, Pal PK, Lee JY, Kukkle PL, Fujioka S, et al.

Mov Disord Clin Pract, 2023 Jun;10(6):878-895.
PMID: 37332644 DOI: 10.1002/mdc3.13737

The increasing availability of molecular genetic testing has changed the landscape of both genetic research and clinical practice. Not only is the pace of discovery of novel disease-causing genes accelerating but also the phenotypic spectra associated with previously known genes are expanding. These advancements lead to the awareness that some genetic movement disorders may cluster in certain ethnic populations and genetic pleiotropy may result in unique clinical presentations in specific ethnic groups. Thus, the characteristics, genetics and risk factors of movement disorders may differ between populations. Recognition of a particular clinical phenotype, combined with information about the ethnic origin of patients could lead to early and correct diagnosis and assist the development of future personalized medicine for patients with these disorders. Here, the Movement Disorders in Asia Task Force sought to review genetic movement disorders that are commonly seen in Asia, including Wilson's disease, spinocerebellar ataxias (SCA) types 12, 31, and 36, Gerstmann-Sträussler-Scheinker disease, PLA2G6-related parkinsonism, adult-onset neuronal intranuclear inclusion disease (NIID), and paroxysmal kinesigenic dyskinesia. We also review common disorders seen worldwide with specific mutations or presentations that occur frequently in Asians.
Fulltext Nine Hereditary Movement Disorders First Described in Asia: Their History and Evolution

Jagota P, Ugawa Y, Aldaajani Z, Ibrahim NM, Ishiura H, Nomura Y, et al.

J Mov Disord, 2023 Sep;16(3):231-247.
PMID: 37309109 DOI: 10.14802/jmd.23065

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.