肌張力不全(dystonia)是一種癥候群,，其特征為肌肉不自主地持續(xù)收縮,，因而引發(fā)扭轉與反復性的運動或異常的姿勢,。而原發(fā)性扭轉型肌張力不全(Primary torsion dystonia, PTD),，乃為無伴隨其它神經(jīng)學癥狀或無法找到原因之肌張力不全,。
根據(jù)一篇由特拉唯夫Sourasky 醫(yī)療中心發(fā)表的研究結果,，可幫助醫(yī)學界更了解肌張力不全的神經(jīng)學致病機制,。這篇研究報告的標題為「Neuropsychological profile of DYT1 dystonia」。
過去,，醫(yī)學界普遍認為原發(fā)性肌張力不全完全是由于運動神經(jīng)的障礙而導致的,，但是這個觀點最近受到了質疑。
因此研究人員分開檢視有癥狀(SYM)及無癥狀 (N-SYM),，帶有DYT1突變的患者之認知特征,，為他們進行神經(jīng)心理學檢測，包括憂郁癥及痛苦程度的患者自我量表,，以及手的運動靈巧性評估,。
每個小組都與健康受試者組成的控制組相對照，二組間的年齡,、性別,、母語，和教育程度都是相似的,。
結果研究人員發(fā)現(xiàn)SYM組與控制組之間,，評估口語和非語言的抽象能力、注意力,、信息處理速度,，和空間組織等認知測試結果并無顯著差異。但是SYM組的口語記憶之反向干擾增加了,。有趣的是,，患者也顯示出較高的語義流暢度表現(xiàn)。而N-SYM組與控制組的測試結果之間,，并未發(fā)現(xiàn)任何顯著差異,。
研究人員認為，攜帶DYT1基因突變且出現(xiàn)癥狀的患者,，并未發(fā)生顯著的認知功能退化,。研究結果發(fā)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 ([email protected])
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.
