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Perry disease: the concept of new disease and clinical diagnostic criteria
Yoshio Tsuboi,Takayasu Mishima,Shinsuke Fujioka 대한파킨슨병및이상운동질환학회 2021 Journal Of Movement Disorders Vol.14 No.1
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.
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,Huifa 대한파킨슨병및이상운동질환학회 2023 Journal Of Movement Disorders Vol.16 No.3
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.