title: Perry syndrome: a disorder to consider in the differential diagnosis of Parkinsonism.
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.
authors.affiliation: Walton Centre for Neurology and Neurosurgery, Liverpool, United Kingdom.
authors.forename: B M
authors.initials: BM
authors.lastname: Aji
authors.forename: G
authors.initials: G
authors.lastname: Medley
authors.forename: K
authors.initials: K
authors.lastname: O'Driscoll
authors.forename: A J
authors.initials: AJ
authors.lastname: Larner
authors.forename: S H
authors.initials: SH
authors.lastname: Alusi
mesh_terms: D001007:Anxiety / Q000523:psychology; D003863:Depression / Q000175:diagnosis; D003937:Diagnosis, Differential; D000072159:Dynactin Complex; D005820:Genetic Testing; D006801:Humans; D007040:Hypoventilation / Q000175:diagnosis*; D008297:Male; D008869:Microtubule-Associated Proteins / Q000235:genetics; D008875:Middle Aged; D019964:Mood Disorders / Q000150:complications / Q000523:psychology; D009154:Mutation / Q000502:physiology; D010300:Parkinson Disease / Q000175:diagnosis*; D020734:Parkinsonian Disorders / Q000175:diagnosis*; D012131:Respiratory Insufficiency / Q000150:complications / Q000523:psychology; D012893:Sleep Wake Disorders / Q000150:complications / Q000523:psychology; D013577:Syndrome; D057177:TDP-43 Proteinopathies
chemical_list: C000606360:DCTN1 protein, human; D000072159:Dynactin Complex; D008869:Microtubule-Associated Proteins