title: Perry syndrome due to the DCTN1 G71R mutation: a distinctive levodopa responsive disorder with behavioral syndrome, vertical gaze palsy, and respiratory failure.
abstract: Perry syndrome is a rare form of autosomal dominant Parkinsonism with respiratory failure recently defined as being due to mutations in the DCTN1 gene. We describe a new family carrying a G71R mutation in the DCTN1 gene. The proband displayed a series of distinctive features not previously described in Perry syndrome: a disorder of vertical downward saccades accompanied by progressive midbrain atrophy, predominant nonmotor symptoms responsive to levodopa, distinctive craniocervical levodopa induced dyskinesias, and a good response to high-dose levodopa therapy and respiratory support. The family was initially thought to have autosomal dominant behavioral variant frontotemporal dementia with Parkinsonism. This report expands the clinical definition of this distinctive syndrome.
authors.affiliation: MRC Centre for Neuropsychatric Genetics and Genomics, Cardiff University School of Medicine, Cardiff, United Kingdom.
authors.forename: Victoria
authors.initials: V
authors.lastname: Newsway
authors.forename: Mark
authors.initials: M
authors.lastname: Fish
authors.forename: Jonathan D
authors.initials: JD
authors.lastname: Rohrer
authors.forename: Elisa
authors.initials: E
authors.lastname: Majounie
authors.forename: Nigel
authors.initials: N
authors.lastname: Williams
authors.forename: Melissa
authors.initials: M
authors.lastname: Hack
authors.forename: Jason D
authors.initials: JD
authors.lastname: Warren
authors.forename: Huw R
authors.initials: HR
authors.lastname: Morris
mesh_terms: D001120:Arginine / Q000235:genetics; D001526:Behavioral Symptoms / Q000150:complications / Q000188:drug therapy / Q000235:genetics*; D004252:DNA Mutational Analysis; D015259:Dopamine Agents / Q000627:therapeutic use; D000072159:Dynactin Complex; D005998:Glycine / Q000235:genetics; D006801:Humans; D007980:Levodopa / Q000627:therapeutic use; D008297:Male; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D008875:Middle Aged; D009483:Neuropsychological Tests; D009901:Optic Nerve Diseases / Q000150:complications / Q000188:drug therapy / Q000235:genetics*; D020734:Parkinsonian Disorders / Q000150:complications / Q000188:drug therapy / Q000235:genetics*; D012131:Respiratory Insufficiency / Q000150:complications / Q000188:drug therapy / Q000235:genetics*
chemical_list: C000606360:DCTN1 protein, human; D015259:Dopamine Agents; D000072159:Dynactin Complex; D008869:Microtubule-Associated Proteins; D007980:Levodopa; D001120:Arginine; D005998:Glycine