期刊
MOVEMENT DISORDERS
卷 25, 期 6, 页码 767-770出版社
WILEY
DOI: 10.1002/mds.22950
关键词
Perry syndrome; respiratory failure; levodopa responsive; gaze palsy; dementia; Parkinsonism
资金
- Medical Research Council (MRC), United Kingdom
- Parkinson's disease society (United Kingdom)
- Wellcome Trust (United Kingdom)
- Brain Exit Scholarship
- Wellcome Trust
- Ipsen Fund
- MRC [G0700943] Funding Source: UKRI
- Medical Research Council [G0801418B, G0700943] Funding Source: researchfish
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. (C) 2010 Movement Disorder Society
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