J Mov Disord.  2021 Jan;14(1):1-9. 10.14802/jmd.20060.

Perry Disease: Concept of a New Disease and Clinical Diagnostic Criteria

Affiliations
  • 1Department of Neurology, School of Medicine, Fukuoka University, Fukuoka, Japan

Abstract

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.

Keyword

Dynactin I gene; Familial Parkinson’s disease; Perry disease; TDP-43 storage disease
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