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KMID : 1197720210140010001
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대한파킨슨병 및 이상운동질환 학회지
2021 Volume.14 No. 1 p.1 ~ p.9
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Perry Disease: Concept of a New Disease and Clinical Diagnostic Criteria
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Tsuboi Yoshio
Mishima Takayasu
Fujioka Shinsuke
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Abstract
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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.
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KEYWORD
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Dynactin I gene, Familial Parkinson’s disease, Perry disease, TDP-43 storage disease
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