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Perry syndrome due to the DCTN1 G71R mutation: a distinctive levodopa responsive disorder with behavioral syndrome, vertical gaze palsy, and respiratory failure

Newsway, Victoria Elizabeth, Fish, Mark, Rohrer, Jonathan D., Majounie, Elisa, Williams, Nigel Melville, Hack, Melissa Anne, Warren, Jason D. and Morris, Huw Rees 2010. Perry syndrome due to the DCTN1 G71R mutation: a distinctive levodopa responsive disorder with behavioral syndrome, vertical gaze palsy, and respiratory failure. Movement Disorders 25 (6) , pp. 767-770. 10.1002/mds.22950

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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.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Neuroscience and Mental Health Research Institute (NMHRI)
Subjects: Q Science > QH Natural history > QH426 Genetics
R Medicine > R Medicine (General)
R Medicine > RC Internal medicine > RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry
Uncontrolled Keywords: Perry syndrome; respiratory failure; levodopa responsive; gaze palsy; dementia; Parkinsonism
Publisher: John Wiley & Sons
ISSN: 0885-3185
Last Modified: 07 Apr 2019 00:21
URI: http://orca-mwe.cf.ac.uk/id/eprint/22899

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