Balestrino Maurizio, Adriano Enrico, Alì Paolo Alessandro, Pardini Matteo
Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal and Child Sciences (DINOGMI), University of Genoa, 16132 Genoa, Italy.
IRCCS Ospedale Policlinico San Martino, 16132 Genoa, Italy.
Brain Sci. 2024 Mar 30;14(4):337. doi: 10.3390/brainsci14040337.
(1) Background: In hereditary creatine transporter deficiency (CTD), there is an absence of creatine in the brain and neurological symptoms are present, including severe language impairment. However, the pathological changes caused by creatine deficiency that generate neuropsychological symptoms have been poorly studied. (2) Aims: To investigate if the language impairment in CTD is underpinned by possible pathological changes. (3) Methods: We used MRI tractography to investigate the trophism of the left arcuate fasciculus, a white matter bundle connecting Wernicke's and Broca's language areas that is specifically relevant for language establishment and maintenance, in two patients (28 and 18 y.o.). (4) Results: The T1 and T2 MRI imaging results were unremarkable, but the left arcuate fasciculus showed a marked decrease in mean fractional anisotropy (FA) compared to healthy controls. In contrast, the FA values in the corticospinal tract were similar to those of healthy controls. Although white matter atrophy has been reported in CTD, this is the first report to show a selective abnormality of the language-relevant arcuate fasciculus, suggesting a possible region-specific impact of creatine deficiency.
（1）背景：在遗传性肌酸转运体缺乏症（CTD）中，大脑中缺乏肌酸，并出现神经症状，包括严重的语言障碍。然而，由肌酸缺乏引起的产生神经心理症状的病理变化研究较少。（2）目的：研究CTD中的语言障碍是否由可能的病理变化所致。（3）方法：我们使用磁共振成像纤维束示踪技术，对两名患者（分别为28岁和18岁）左侧弓状束的营养状况进行了研究，左侧弓状束是连接韦尼克区和布洛卡区语言区域的白质束，与语言的建立和维持密切相关。（4）结果：磁共振成像T1和T2的成像结果无明显异常，但与健康对照相比，左侧弓状束的平均各向异性分数（FA）显著降低。相比之下，皮质脊髓束的FA值与健康对照相似。虽然CTD中已有白质萎缩的报道，但这是首次报告显示与语言相关的弓状束存在选择性异常，提示肌酸缺乏可能对特定区域产生影响。
