Gómez-Ansón B, Alegret M, Muñoz E, Monté G C, Alayrach E, Sánchez A, Boada M, Tolosa E
Department of Radiology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
Parkinsonism Relat Disord. 2009 Mar;15(3):213-9. doi: 10.1016/j.parkreldis.2008.05.010. Epub 2008 Jul 15.
To investigate grey matter volumes on magnetic resonance imaging (MRI) in preclinical Huntington's disease (HD), and their relationship to neuropsychology and CAG number.
Twenty preclinical HD carriers and 21 healthy controls matched for age, sex, and educational level were included in this study. Clinical (UHDRS), and detailed neuropsychological assessments, and 3D IR SPGR axial MR acquisition. Calculation of global, segmented (SIENAX), and focal (voxel based morphometry, VBM) grey matter volumes was carried out. An analysis of variance (ANOVA) and a general linear model for VBM analysis were used to compare preclinical HD carriers and controls. Small volume correction was used, and clusters at p<0.05 were considered significant. Correlation analysis (VBM) with neuropsychology, and CAG number was also performed.
Preclinical HD carriers showed, compared to controls, smaller global volumes of the brain (1279+/-6 vs. 1331+/-46, p=0.003), total (666+/-48 vs. 698+/-34, p=0.020) and cortical grey matter (551+/-44 vs. 577+/-32, p=0.035). When compared to the controls, preclinical carriers showed focal volume losses, which were more prominent in the left prefrontal cortex, cerebellum, and right posterior temporal cortex. Preclinical HD performed slower in a visuomotor integration task, the 15-Objects test, than controls (t (1,25.02)=3.69; p=0.001: pre-HD: 69.55+/-28.86; controls: 45.79+/-8.38). A correlation was found between volume loss in the prefrontal cortex, visuomotor performance, and CAG number.
Preclinical HD carriers show grey matter volume reduction involving the prefrontal cortex, which relates to the visuomotor performance and CAG number. This suggests that regionally selective neuronal loss/dysfunction occurs prior to the clinical onset of symptoms.
研究临床前亨廷顿舞蹈病（HD）患者磁共振成像（MRI）上的灰质体积，及其与神经心理学和CAG重复数的关系。
本研究纳入了20名临床前HD携带者以及21名年龄、性别和教育水平相匹配的健康对照者。进行临床评估（统一亨廷顿舞蹈病评定量表，UHDRS）、详细的神经心理学评估以及三维IR SPGR轴位MR采集。计算全脑、分割（SIENAX）和局灶性（基于体素的形态学测量，VBM）灰质体积。采用方差分析（ANOVA）和用于VBM分析的一般线性模型来比较临床前HD携带者和对照者。使用小体积校正，p<0.05的簇被认为具有显著性。还进行了VBM与神经心理学及CAG重复数的相关性分析。
与对照者相比,临床前HD携带者全脑体积较小（1279±6 vs. 1331±46，p=0.003），总灰质体积较小（666±48 vs. 698±34，p=0.020），皮质灰质体积较小（551±44 vs. 577±32，p=0.035）。与对照者相比，临床前携带者出现局灶性体积减小，在左侧前额叶皮质、小脑和右侧颞后皮质更为明显。临床前HD患者在视觉运动整合任务（15物体测试）中的表现比对照者慢（t(1,25.02)=3.69；p=0.001：临床前HD：69.55±28.86；对照者：45.79±8.38）。在前额叶皮质体积减少、视觉运动表现和CAG重复数之间发现了相关性。
临床前HD携带者存在涉及前额叶皮质的灰质体积减少，这与视觉运动表现和CAG重复数有关。这表明在症状临床发作之前就出现了区域选择性神经元丢失/功能障碍。
