Louis E D, Anderson K E, Moskowitz C, Thorne D Z, Marder K
Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY, USA.
Arch Neurol. 2000 Sep;57(9):1326-30. doi: 10.1001/archneur.57.9.1326.
In juvenile Huntington disease (HD), dystonia as well as parkinsonism and eye movement abnormalities may be the predominant motor signs rather than chorea. Several patients have come to our attention with adult-onset HD in whom there is prominent dystonia and minimal chorea (ie, an adult-onset form of HD that resembles juvenile HD).
To estimate the prevalence of these cases of dystonia-predominant HD in a clinic and to study the relationship between the motor phenotype and age of onset in HD.
The Unified Huntington's Disease Rating Scale (UHDRS) was administered to 127 subjects during their initial visit to the Huntington's Disease Center at the New York State Psychiatric Institute, where dystonia, chorea, bradykinesia, rigidity, and eye movements were rated. The dystonia score was the mean UHDRS rating of dystonia in 5 body regions; the chorea score, the mean rating of chorea in 7 regions; the bradykinesia score, the mean rating of axial and limb bradykinesia; the rigidity score, the mean rating of rigidity in both arms; and the eye movement score, the mean rating of ocular pursuit, saccade initiation, and velocity. Dystonia-predominant HD was defined by the severity of dystonia relative to the severity of chorea.
Fifteen (11.8%) of 127 subjects had dystonia-predominant HD. Age of onset correlated negatively (r= -0. 22, P=.02) with the dystonia score divided by the chorea score and negatively (r= -0.28, P=.002) with the severity of dystonia, bradykinesia, and eye movement abnormalities relative to chorea (ie, [(dystonia score + bradykinesia score + eye movement score)/3] - chorea score), suggesting that subjects with younger ages of onset had more severe dystonia, bradykinesia, and eye movement abnormalities relative to chorea.
Cases of adult-onset HD with prominent dystonia and a paucity of chorea may represent 1 in 8 cases in specialty clinics. Age of onset was clearly associated with the motor phenotype. A younger age of onset was associated with more severe dystonia, bradykinesia, and eye movement abnormalities relative to chorea, supporting the notion that in adult-onset HD, the motor phenotype forms a continuum with respect to age of onset.
在青少年型亨廷顿舞蹈症（HD）中，肌张力障碍以及帕金森综合征和眼球运动异常可能是主要的运动症状，而非舞蹈症。我们注意到有几位成年起病的HD患者，其肌张力障碍明显且舞蹈症轻微（即一种类似青少年型HD的成年起病形式的HD）。
评估在一家诊所中这些以肌张力障碍为主的HD病例的患病率，并研究HD中运动表型与发病年龄之间的关系。
对127名受试者在首次就诊于纽约州精神病研究所亨廷顿舞蹈症中心时进行统一亨廷顿舞蹈症评定量表（UHDRS）评估，对肌张力障碍、舞蹈症、运动迟缓、强直和眼球运动进行评分。肌张力障碍评分是5个身体部位肌张力障碍的UHDRS平均评分；舞蹈症评分是7个部位舞蹈症的平均评分；运动迟缓评分是轴向和肢体运动迟缓的平均评分；强直评分是双臂强直的平均评分；眼球运动评分是眼球追踪、扫视启动和速度的平均评分。以肌张力障碍相对于舞蹈症的严重程度来定义以肌张力障碍为主的HD。
127名受试者中有15名（11.8%）患有以肌张力障碍为主的HD。发病年龄与肌张力障碍评分除以舞蹈症评分呈负相关（r = -0.22，P = 0.02），与肌张力障碍、运动迟缓及眼球运动异常相对于舞蹈症的严重程度呈负相关（r = -0.28，P = 0.002），即[（肌张力障碍评分 + 运动迟缓评分 + 眼球运动评分）/3] - 舞蹈症评分，这表明发病年龄较小的受试者相对于舞蹈症而言，其肌张力障碍、运动迟缓及眼球运动异常更严重。
在专科诊所中，成年起病且肌张力障碍明显而舞蹈症较少的HD病例可能占八分之一。发病年龄与运动表型明显相关。发病年龄较小与相对于舞蹈症更严重的肌张力障碍、运动迟缓及眼球运动异常相关，这支持了在成年起病的HD中，运动表型在发病年龄方面形成一个连续谱的观点。
