Clinical, pathological and genetic characteristics of Perry disease-new cases and literature review.

ABSTRACT:

Background and purpose

Perry disease (or Perry syndrome) is an autosomal dominant neurodegenerative disorder characterized by parkinsonism, neuropsychiatric symptoms, central hypoventilation, weight loss and distinct TDP-43 pathology. It is caused by mutations of the DCTN1 gene encoding an essential component of axonal transport. The objectives were to provide the current state of knowledge on clinical, pathological and genetic aspects of Perry disease, as well as practical suggestions for the management of the disease.

Methods

Data on new patients from New Zealand, Poland and Colombia were collected, including autopsy report. Also all of the published papers since the original work by Perry in 1975 were gathered and analyzed.

Results

Parkinsonism was symmetrical, pro

SUBMITTER: Dulski J 

PROVIDER: S-EPMC9295182 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature