New triggers and non-motor findings in a family with rapid-onset dystonia-parkinsonism

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• 作者：Richard L. Barbano^a ; Deborah F. Hill^b ; Beverly M. Snively^c ; Laney S. Light^c ; Niki Boggs^d ; W. Vaughn McCall^d ; Mark Stacy^e ; Laurie Ozelius^f ; ^g ; Kathleen J. Sweadner^h ; Allison Brashear^b ; ^{abrashea@wakehealth.edu}
• 关键词：Dystonia ; RDP ; DYT-12 ; Rapid-onset dystonia-parkinsonism
• 刊名：Parkinsonism and Related Disorders
• 出版年：2012
• 期刊代码：215_13538020
• 类别：med
• 出版时间：July, 2012
• 卷：18
• 期：6
• 页码：737-741
• 文件大小：137 K

摘要

Background

A woman from Italy presented with dystonic leg symptoms at the age of 59. Rapid-onset dystonia-parkinsonism (RDP) was not suspected until 3 affected children (2 male, 1 female) with presentations consistent with the disorder were recognized.

Methods

The mother and four of her children (3 with and 1 without dystonia) were evaluated with an extensive battery including standardized history questionnaire and rating scales. In addition, all four children had cognitive testing and three of the four children had psychiatric interviews.

Results

In this family, a T613M mutation in the ATP1A3 gene was confirmed, the most common mutation present in patients with RDP. The proband's limb dystonia was atypical of RDP, symptoms of the others affected included dysarthria, asymmetric limb dystonia, and dysphagia more consistent with RDP. The two sons developed dystonia-parkinsonism in adolescence after consuming large amounts of alcohol. All 3 of those with psychiatric interviews reached diagnosable thresholds for mood disorder (bipolar or dysthymia) and some form of anxiety disorder.

Conclusions

The phenotype and age of onset is broader than previously reported in RDP, suggesting that it could be under-reported. Prior to this study, neuropsychologic symptoms associated with RDP were under-appreciated. Those patients who are at risk or suspected of having RDP should be cautioned to avoid excessive alcohol intake. Further study is needed to assess if the cognitive and psychiatric features are part of a broader RDP phenotype and this may have implications for future research into genetic susceptibility for psychiatric disease.