Perry syndrome
Definition:
Perry syndrome is a rapidly progressive, autosomal dominant, neurodegenerative disorder. The cardinal symptoms consist of parkinsonism, depression, severe weight loss and hypoventilation. At a molecular level, Perry syndrome is characterized by TDP-43 inclusions indicating a pathological overlap with amyotrophic lateral sclerosis (ALS) and some forms of frontotemporal lobar degeneration (FTLD). Perry syndrome has recently been identified as being due to mutations in the DCTN1 gene, encoding the component of the dynactin complex.
Referencias:
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[1]. Matthew J Farrer, et al. DCTN1 mutations in Perry syndrome. Nat Genet. 2009 Feb;41(2):163-5. [Content Brief]
[2]. Victoria Newsway, et al. Perry syndrome due to the DCTN1 G71R mutation: a distinctive levodopa responsive disorder with behavioral syndrome, vertical gaze palsy, and respiratory failure. Mov Disord. 2010 Apr 30;25(6):767-70. [Content Brief]
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