| Perry syndrome due to the DCTN1 G71R mutation: a distinctive levodopa responsive disorder with behavioral syndrome, vertical gaze palsy, and respiratory failure. | |
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MedLine Citation:
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PMID: 20437543 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Victoria Newsway; Mark Fish; Jonathan D Rohrer; Elisa Majounie; Nigel Williams; Melissa Hack; Jason D Warren; Huw R Morris |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Movement disorders : official journal of the Movement Disorder Society Volume: 25 ISSN: 1531-8257 ISO Abbreviation: Mov. Disord. Publication Date: 2010 Apr |
Date Detail:
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Created Date: 2010-05-03 Completed Date: 2010-07-28 Revised Date: 2011-07-18 |
Medline Journal Info:
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Nlm Unique ID: 8610688 Medline TA: Mov Disord Country: United States |
Other Details:
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Languages: eng Pagination: 767-70 Citation Subset: IM |
Copyright Information:
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2009 Movement Disorder Society |
Affiliation:
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MRC Centre for Neuropsychatric Genetics and Genomics, Cardiff University School of Medicine, Cardiff, United Kingdom. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Arginine
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genetics Behavioral Symptoms / complications, drug therapy, genetics* DNA Mutational Analysis Dopamine Agents / therapeutic use Glycine / genetics Humans Levodopa / therapeutic use Male Microtubule-Associated Proteins / genetics* Middle Aged Neuropsychological Tests Optic Nerve Diseases / complications, drug therapy, genetics* Parkinsonian Disorders / complications, drug therapy, genetics* Respiratory Insufficiency / complications, drug therapy, genetics* |
| Grant Support | |
ID/Acronym/Agency:
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//Medical Research Council; //Wellcome Trust |
| Chemical | |
Reg. No./Substance:
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0/Dopamine Agents; 0/Levodopa; 0/Microtubule-Associated Proteins; 144198-36-7/dynactin; 56-40-6/Glycine; 74-79-3/Arginine |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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