Second Department of Neurology, Institute of Psychiatry and Neurology, Sobieskiego 9, 02-957, Warsaw, Poland.
Department of Radiology, Institute of Psychiatry and Neurology, Warsaw, Poland.
Neurol Sci. 2019 Oct;40(10):2089-2095. doi: 10.1007/s10072-019-03942-z. Epub 2019 May 30.
To determine whether brain volume was associated with functional and neurological impairments and with copper overload markers in patients with Wilson's disease.
In 48 treatment-naïve patients, we assessed functional and neurological impairments with the Unified Wilson's Disease Rating Scale, measured normalized brain volumes based on magnetic resonance images, and assessed concentration of non-ceruloplasmin-bound copper. We correlated brain volume measures with functional and neurological impairment scores and copper overload indices.
Functional and neurological impairments correlated with all brain volume measures, including the total brain volume and the volumes of white matter and gray matter (both peripheral gray matter and deep brain nuclei). Higher non-ceruloplasmin-bound copper concentrations were associated with greater functional and neurological impairments and lower brain volumes.
Our findings provided the first in vivo evidence that the severity of brain atrophy is a correlate of functional and neurological impairments in patients with Wilson's disease and that brain volume could serve as a marker of neurodegeneration induced by copper.
为了确定脑容量是否与威尔逊病患者的功能和神经损伤以及铜过载标志物有关。
在 48 名未经治疗的患者中，我们使用统一的威尔逊病评分量表评估功能和神经损伤，根据磁共振成像测量标准化的脑容量，并评估非铜蓝蛋白结合铜的浓度。我们将脑容量测量与功能和神经损伤评分以及铜过载指标进行了相关性分析。
功能和神经损伤与所有脑容量测量值相关，包括总脑容量以及白质和灰质（外周灰质和深部脑核）的体积。较高的非铜蓝蛋白结合铜浓度与更严重的功能和神经损伤以及更低的脑容量相关。
我们的研究结果首次提供了体内证据，表明威尔逊病患者脑萎缩的严重程度与功能和神经损伤相关，并且脑容量可以作为铜诱导的神经退行性变的标志物。
