Witjes-Ané Marie-Noëlle W, Mertens Bart, van Vugt Jeroen P P, Bachoud-Lévi Anne-Catherine, van Ommen Gert-Jan B, Roos Raymund A C
Leiden University Medical Center, Department of Neurology, Section Neuropsychology J3-R, P.O. Box 9600, 2300 RC Leiden, The Netherlands.
J Neuropsychiatry Clin Neurosci. 2007 Summer;19(3):310-7. doi: 10.1176/jnp.2007.19.3.310.
The authors evaluated motor, behavioral, and cognitive functioning over a 3-year period in 33 presymptomatic carriers for Huntington's disease and compared them with 73 noncarriers. Investigators blind to the participant's gene status utilized the Unified Huntington's Disease Rating Scale (UHDRS) and performed an extensive neuropsychological assessment (global cognitive, memory, language, psychomotor). Successive evaluations of motor and behavioral patterns showed inconsistencies. The rate of cognitive changes in carriers was similar to that in noncarriers. Commonly used tools are inadequate for detecting markers in preclinical Huntington's disease, limiting the design of therapeutic trials. Research should focus on tracking suitable endpoints combining clinical markers and biomarkers that change linearly with disease progression.
作者在3年时间里对33名亨廷顿舞蹈症症状前携带者的运动、行为和认知功能进行了评估，并将他们与73名非携带者进行了比较。对参与者基因状态不知情的研究人员使用了统一亨廷顿舞蹈症评定量表（UHDRS），并进行了广泛的神经心理学评估（整体认知、记忆、语言、精神运动）。对运动和行为模式的连续评估显示出不一致性。携带者的认知变化率与非携带者相似。常用工具不足以检测临床前亨廷顿舞蹈症的标志物，限制了治疗试验的设计。研究应侧重于追踪合适的终点指标，将临床标志物和生物标志物结合起来，这些指标会随着疾病进展呈线性变化。
