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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
Author(s) -
Newsway Victoria,
Fish Mark,
Rohrer Jonathan D.,
Majounie Elisa,
Williams Nigel,
Hack Melissa,
Warren Jason D.,
Morris Huw R.
Publication year - 2010
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.22950
Subject(s) - levodopa , parkinsonism , frontotemporal dementia , proband , psychology , medicine , atrophy , neuroscience , mutation , dementia , pathology , disease , parkinson's disease , genetics , biology , gene
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. © 2009 Movement Disorder Society