肌张力不全(dystonia)是一种症候群，其特征为肌肉不自主地持续收缩，因而引发扭转与反复性的运动或异常的姿势。而原发性扭转型肌张力不全(Primary torsion dystonia, PTD)，乃为无伴随其它神经学症状或无法找到原因之肌张力不全。
根据一篇由特拉唯夫Sourasky 医疗中心发表的研究结果，可帮助医学界更了解肌张力不全的神经学致病机制。这篇研究报告的标题为「Neuropsychological profile of DYT1 dystonia」。
过去，医学界普遍认为原发性肌张力不全完全是由于运动神经的障碍而导致的，但是这个观点最近受到了质疑。
因此研究人员分开检视有症状(SYM)及无症状 (N-SYM)，带有DYT1突变的患者之认知特征，为他们进行神经心理学检测，包括忧郁症及痛苦程度的患者自我量表，以及手的运动灵巧性评估。
每个小组都与健康受试者组成的控制组相对照，二组间的年龄、性别、母语，和教育程度都是相似的。
结果研究人员发现SYM组与控制组之间，评估口语和非语言的抽象能力、注意力、信息处理速度，和空间组织等认知测试结果并无显著差异。但是SYM组的口语记忆之反向干扰增加了。有趣的是，患者也显示出较高的语义流畅度表现。而N-SYM组与控制组的测试结果之间，并未发现任何显著差异。
研究人员认为，携带DYT1基因突变且出现症状的患者，并未发生显著的认知功能退化。研究结果发表于Movement Disorders中。
部分英文原文：
Neuropsychological profile of DYT1 dystonia
Meirav Balas, MA 1 2 *, Chava Peretz, PhD 1 3, Samih Badarny, MD 4 5, Richard B. Scott, PhD 6, Nir Giladi, MD 1 3
1Movement Disorders Unit, Department of Neurology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel
2Brain Behavior Research Center, University of Haifa, Haifa, Israel
3Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel
4Movement Disorders Clinic, Department of Neurology, Carmel Medical Center, Haifa, Israel
5Rappaport Faculty of Medicine, Technion, Israel Institute of Technology, Haifa, Israel
6Russell-Cairns Unit, Radcliffe Infirmary, Oxford, United Kingdom
email: Meirav Balas (mbalas@study.haifa.ac.il)
Keywords
DYT1 dystonia ?cognitive functions ?executive functions ?retroactive interference
Abstract
The common belief that primary dystonia is a purely motor disorder has recently been challenged. We examined separately the cognitive profiles of symptomatic (SYM) and nonsymptomatic (N-SYM) groups of carriers of DYT1 mutation using a comprehensive neuropsychological test battery. Self-report inventories of anxiety, depression, and pain levels were also administered, as well as manual motor dexterity assessment. Each group was matched with healthy controls by age, sex, mother tongue, and education. No significant differences between the SYM group to its control group were found on cognitive tests evaluating verbal and nonverbal abstract abilities, attention, information processing speed, and spatial organization. However, the SYM group showed increased verbal memory retroactive interference. Interestingly, the patients also showed higher semantic fluency performance. No significant differences between the N-SYM group to controls were found. It was concluded that symptomatic DYT1 mutation carriers do not suffer the distinctive cognitive decline that is seen in other primary degenerative extrapyramidal disorders.
