Perry syndrome: a disorder to consider in the differential diagnosis of Parkinsonism

J Neurol Sci. 2013 Jul 15;330(1-2):117-8. doi: 10.1016/j.jns.2013.04.008. Epub 2013 Apr 28.

Abstract

A patient with a mood disorder and a Parkinsonian syndrome with frontal cognitive impairment thought to resemble progressive supranuclear palsy defied precise diagnosis until the development of respiratory compromise, prompting consideration of the diagnosis of Perry syndrome. A mutation in the dynactin 1 gene confirmed the diagnosis. Few examples of this disorder, characterised by depression, Parkinsonism, and respiratory insufficiency, have been reported but it may be more commonly recognised with the availability of genetic testing. Perry syndrome needs to be considered in the differential diagnosis of Parkinsonism, particularly in autosomal dominant pedigrees. Diagnosis early in the disease course may facilitate monitoring and prompt intervention to avoid potentially fatal respiratory failure.

Publication types

  • Case Reports

MeSH terms

  • Anxiety / psychology
  • Depression / diagnosis
  • Diagnosis, Differential
  • Dynactin Complex
  • Genetic Testing
  • Humans
  • Hypoventilation / diagnosis*
  • Male
  • Microtubule-Associated Proteins / genetics
  • Middle Aged
  • Mood Disorders / complications
  • Mood Disorders / psychology
  • Mutation / physiology
  • Parkinson Disease / diagnosis*
  • Parkinsonian Disorders / diagnosis*
  • Respiratory Insufficiency / complications
  • Respiratory Insufficiency / psychology
  • Sleep Wake Disorders / complications
  • Sleep Wake Disorders / psychology
  • Syndrome

Substances

  • DCTN1 protein, human
  • Dynactin Complex
  • Microtubule-Associated Proteins

Supplementary concepts

  • Perry Syndrome