Subtle involuntary movements are not reliable indicators of incipient Huntington's disease
Subtle involuntary movements are not reliable indicators of incipient Huntington's disease
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轻微的不自主运动并不是亨廷顿病初期的可靠指标
DOI：
10.1002/mds.870130120
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发表时间：
1998
影响因子：
8.6
通讯作者：
R. Roos
中科院分区：
文献类型：
--
作者：
G. D. Boo;A. Tibben;J. Hermans;A. Maat;R. Roos
过去，当运动障碍与阳性家族史一致时，即可诊断出亨廷顿病。然而，在标准的神经学检查中通常无法发现早期运动体征，并且其表达是可变的。直到疾病的后期才能确定诊断。由于基因诊断成为可能，症状和体征的发作可以在最早阶段进行研究。本研究的目的是评价观察者对亨廷顿病早期运动体征评估的一致性。共有17名基因携带者，22名非携带者和8名伴侣在视频中记录了他们在指导后进行的几次面部运动，并进行了5分钟的对话。三位经验丰富的神经科医生，不知道参与者的遗传状态，独立地判断和分类视频记录。不同意的病例在神经科医生讨论这些病例后进行第二次判断。第一次判断后观察者一致性较差（kappas 0.09，0.24，0.45），第二次判断后一致性令人满意（kappas 0.79，0.90，0.78）。临床实践和研究计划的后果到早期症状和体征进行了讨论。
In the past, Huntington's disease was diagnosed when movement disturbances were present in concordance with a positive family history. Early motor signs, however, are often not found in a standard neurologic examination, and their expression is variable. Not until later stages of the disease could one be sure about the diagnosis. Since genetic diagnosis became available, the onset of symptoms and signs could be studied in the earliest phase. The aim of the study was to evaluate observer agreement of the assessment of early motor signs in Huntington's disease. A total of 17 gene carriers, 22 noncarriers, and eight partners were recorded on video performing several facial movements after instruction and engaging in a 5‐minute conversation. Three experienced neurologists, unaware of the genetic status of the participants, judged and classified the video recordings independently. The cases with disagreement were judged a second time after the neurologists discussed these cases. The observer agreement after the first judgment is poor (kappas 0.09, 0.24, 0.45) and after the second judgment satisfactory (kappas 0.79, 0.90, 0.78). Consequences for clinical practice and research programs into early symptoms and signs are discussed.
亨廷顿病的精神综合症。
DOI：
10.1176/ajp.140.6.728
发表时间：
1983
期刊：
The American journal of psychiatry
影响因子：
--
作者：
Caine,ED;Shoulson,I
通讯作者：
Shoulson,I
在无症状的高危个体中，亨廷顿病基因是否存在神经心理学表现？
影响因子：
--
作者：
Strauss,ME;Brandt,J
通讯作者：
Brandt,J
影响因子：
--
作者：
GIORDANI, B;BERENT, S;YOUNG, AB
通讯作者：
YOUNG, AB