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(zhuǎn)與反復(fù)性的運(yùn)動(dòng)或異常的姿勢(shì)。而原發(fā)性扭轉(zhuǎn)型肌張力不全(Primary torsion dystonia, PTD),，乃為無(wú)伴隨其它神經(jīng)學(xué)癥狀或無(wú)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(jié)果，可幫助醫(yī)學(xué)界更了解肌張力不全的神經(jīng)學(xué)致病機(jī)制,。這篇研究報(bào)告的標(biāo)題為「Neuropsychological profile of DYT1 dystonia」,。
過(guò)去，醫(yī)學(xué)界普遍認(rèn)為原發(fā)性肌張力不全完全是由于運(yùn)動(dòng)神經(jīng)的障礙而導(dǎo)致的,，但是這個(gè)觀點(diǎn)最近受到了質(zhì)疑,。
因此研究人員分開(kāi)檢視有癥狀(SYM)及無(wú)癥狀 (N-SYM)，帶有DYT1突變的患者之認(rèn)知特征,，為他們進(jìn)行神經(jīng)心理學(xué)檢測(cè),，包括憂郁癥及痛苦程度的患者自我量表，以及手的運(yùn)動(dòng)靈巧性評(píng)估,。
每個(gè)小組都與健康受試者組成的控制組相對(duì)照,，二組間的年齡、性別,、母語(yǔ),，和教育程度都是相似的。
結(jié)果研究人員發(fā)現(xiàn)SYM組與控制組之間,，評(píng)估口語(yǔ)和非語(yǔ)言的抽象能力,、注意力、信息處理速度,，和空間組織等認(rèn)知測(cè)試結(jié)果并無(wú)顯著差異,。但是SYM組的口語(yǔ)記憶之反向干擾增加了。有趣的是,，患者也顯示出較高的語(yǔ)義流暢度表現(xiàn),。而N-SYM組與控制組的測(cè)試結(jié)果之間，并未發(fā)現(xiàn)任何顯著差異,。
研究人員認(rèn)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(rèn)知功能退化,。研究結(jié)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.
