Abstract：
OBJECTIVE: Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disease caused by ATP1A3 mutations. Using voxel-based morphometry (VBM) analysis, we compared an AHC patient cohort with controls. Additionally, with single-case VBM analysis, we assessed the associations between clinical severity and brain volume in patients with AHC.
METHODS: To investigate structural brain changes in gray matter (GM) and white matter (WM) volumes between 9 patients with AHC and 20 age-matched controls, VBM analysis was performed using three-dimensional T1-weighted magnetic resonance imaging. Single-case VBM analysis was also performed on nine patients with AHC to investigate the associations between the respective volumes of GM/WM differences and the motor level, cognitive level, and status epilepticus severity in patients with AHC.
RESULTS: Compared with controls, patients with AHC showed significant GM volume reductions in both hippocampi and diffuse cerebellum, and there were WM reductions in both cerebral hemispheres. In patients with AHC, cases with more motor dysfunction, the less GM/WM volume of cerebellum was shown. Three of the six cases with cognitive dysfunction showed a clear GM volume reduction in the insulae. Five of the six cases with status epilepticus showed the GM volume reduction in hippocampi. One case had severe status epilepticus without motor dysfunction and showed no cerebellar atrophy.
CONCLUSIONS: With single-case VBM analysis, we could show the association between region-specific changes in brain volume and the severity of various clinical symptoms even in a small sample of subjects.
METHODS: To investigate structural brain changes in gray matter (GM) and white matter (WM) volumes between 9 patients with AHC and 20 age-matched controls, VBM analysis was performed using three-dimensional T1-weighted magnetic resonance imaging. Single-case VBM analysis was also performed on nine patients with AHC to investigate the associations between the respective volumes of GM/WM differences and the motor level, cognitive level, and status epilepticus severity in patients with AHC.
RESULTS: Compared with controls, patients with AHC showed significant GM volume reductions in both hippocampi and diffuse cerebellum, and there were WM reductions in both cerebral hemispheres. In patients with AHC, cases with more motor dysfunction, the less GM/WM volume of cerebellum was shown. Three of the six cases with cognitive dysfunction showed a clear GM volume reduction in the insulae. Five of the six cases with status epilepticus showed the GM volume reduction in hippocampi. One case had severe status epilepticus without motor dysfunction and showed no cerebellar atrophy.
CONCLUSIONS: With single-case VBM analysis, we could show the association between region-specific changes in brain volume and the severity of various clinical symptoms even in a small sample of subjects.
摘要：
目的：儿童交替性偏瘫（AHC）是一种由ATP1A3突变引起的罕见神经发育性疾病。使用基于体素的形态测量(VBM)分析，我们将AHC患者队列与对照组进行了比较.此外,通过单例VBM分析，我们评估了AHC患者的临床严重程度与脑容量之间的相关性.
方法：为了研究9例AHC患者和20例年龄匹配的对照组的脑灰质（GM）和白质（WM）体积的结构性变化，使用三维T1加权磁共振成像进行VBM分析。还对9例AHC患者进行了单病例VBM分析，以调查GM/WM差异的各自体积与运动水平之间的关联。认知水平,和AHC患者的癫痫持续状态严重程度。
结果：与对照组相比，AHC患者显示海马和弥漫性小脑的GM体积显著减少，两个大脑半球的WM减少。在AHC患者中，运动功能障碍较多的病例，显示小脑的GM/WM体积越少。6例认知功能障碍患者中有3例表现出明显的转基因体积减少。6例癫痫持续状态患者中有5例显示海马GM体积减少。1例患有严重的癫痫持续状态，无运动功能障碍，无小脑萎缩。
结论：通过单病例VBM分析，我们可以显示特定区域的脑容量变化与各种临床症状的严重程度之间的关联,即使在小样本受试者中也是如此.
方法：为了研究9例AHC患者和20例年龄匹配的对照组的脑灰质（GM）和白质（WM）体积的结构性变化，使用三维T1加权磁共振成像进行VBM分析。还对9例AHC患者进行了单病例VBM分析，以调查GM/WM差异的各自体积与运动水平之间的关联。认知水平,和AHC患者的癫痫持续状态严重程度。
结果：与对照组相比，AHC患者显示海马和弥漫性小脑的GM体积显著减少，两个大脑半球的WM减少。在AHC患者中，运动功能障碍较多的病例，显示小脑的GM/WM体积越少。6例认知功能障碍患者中有3例表现出明显的转基因体积减少。6例癫痫持续状态患者中有5例显示海马GM体积减少。1例患有严重的癫痫持续状态，无运动功能障碍，无小脑萎缩。
结论：通过单病例VBM分析，我们可以显示特定区域的脑容量变化与各种临床症状的严重程度之间的关联,即使在小样本受试者中也是如此.
