Zappacosta B, Monza D, Meoni C, Austoni L, Soliveri P, Gellera C, Alberti R, Mantero M, Penati G, Caraceni T, Girotti F
Istituto Nazionale Neurologico C. Besta, Milan, Italy.
Arch Neurol. 1996 Jun;53(6):493-7. doi: 10.1001/archneur.1996.00550060035012.
To investigate the hypothesis that psychiatric disturbances in Huntington's disease are related to degree of cognitive or motor compromise and to determine correlations between CAG repeat length within the gene for Huntington's disease and disease severity.
Consecutive series of patients with Huntington's disease.
Neurological specialty hospital.
Seventeen men and 12 women from 24 families.
The Hamilton Psychiatric and Anxiety Rating Scales and Brief Psychiatric Rating Scale were used to assess psychiatric disturbances; Folstein's Quantified Neurological Examination to evaluate motor status; and the Mini-Mental State Examination, Raven Progressive Matrices), Phonemic Verbal Fluency Test, Short Tale Test, Visual Search Test, and Benton's Visual Orientation Line Test to evaluate cognitive function. The length of the CAG repeat sequence in the Huntington's gene was determined by quantitative polymerase chain reaction.
Cognitive test scores correlated significantly with each other; of these, results of the Visual Search and Short Tale tests correlated significantly with the Folstein's Quantified Neurological Examination score (P = .05 and P = .03, respectively). Results of the Folstein's Quantified Neurological Examination also correlated with the illness duration and the length of the CAG repeat. Although psychiatric scores correlated significantly among themselves (P < .01), neither cognitive compromise, motor deterioration, nor CAG length were related to the extent of psychiatric compromise. Patients who were depressed when they were examined tended to have a history of psychiatric disorders.
The lack of correlation between disease severity and psychiatric disturbances indicates that psychiatric disorders progress nonlinearly, possibly because of differential degeneration of the striatal-cortical circuits; the possibility that psychiatric disorders are prevalent in certain families with a member who has Huntington's disease is being further investigated. The lack of correlation between CAG length and cognitive and psychiatric variables needs further investigation.
探讨亨廷顿病的精神障碍与认知或运动损害程度相关这一假说，并确定亨廷顿病基因内CAG重复序列长度与疾病严重程度之间的相关性。
亨廷顿病患者的连续系列研究。
神经专科医院。
来自24个家庭的17名男性和12名女性。
采用汉密尔顿精神病评定量表和焦虑评定量表以及简明精神病评定量表评估精神障碍；采用福尔斯坦量化神经学检查评估运动状态；采用简易精神状态检查表、瑞文渐进性矩阵测验、音素流畅性测验、短篇故事测验、视觉搜索测验和本顿视觉定向线测验评估认知功能。通过定量聚合酶链反应确定亨廷顿病基因中CAG重复序列的长度。
认知测试分数之间显著相关；其中，视觉搜索测验和短篇故事测验的结果与福尔斯坦量化神经学检查分数显著相关（分别为P = 0.05和P = 0.03）。福尔斯坦量化神经学检查的结果也与病程及CAG重复序列长度相关。尽管精神科评分之间显著相关（P < 0.01），但认知损害、运动恶化或CAG长度均与精神损害程度无关。检查时抑郁的患者往往有精神障碍病史。
疾病严重程度与精神障碍之间缺乏相关性表明，精神障碍呈非线性进展，可能是由于纹状体-皮质回路的不同程度退化；亨廷顿病患者所在某些家庭中精神障碍普遍存在这一可能性正在进一步研究。CAG长度与认知及精神变量之间缺乏相关性有待进一步研究。
