Event-related potential (ERP) evidence for visual processing differences in children and adults with cystinosis (CTNS gene mutations).
Event-related potential (ERP) evidence for visual processing differences in children and adults with cystinosis (CTNS gene mutations).
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DOI：
10.1186/s13023-023-02985-y
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发表时间：
2023-12-12
影响因子：
3.7
通讯作者：
中科院分区：
文献类型：
--
作者：
胱氨酸病是一种罕见的由CTNS基因突变引起的溶酶体贮积病，其特征是胱氨酸结晶和在多个组织（包括肾脏和大脑）中蓄积。相对于疾病早期对其他器官的影响，其对神经功能的影响似乎较轻，但由于治疗进展已导致预期寿命大幅增加，因此神经系统的影响越来越受到关注，需要更深入地了解胱氨酸病对神经认知功能的影响。行为困难已被报道在视觉领域的胱氨酸病。然而，人们对胱氨酸病患者的大脑如何处理视觉信息知之甚少。鉴于角膜和眼后结构中的胱氨酸积累是胱氨酸病的标志，这是特别有趣的。在这里，高密度头皮电生理记录视觉刺激（在去/不去任务），以调查与年龄匹配的对照组相比，在个人与胱氨酸的视觉处理。分析集中在皮层视觉处理的早期阶段。各组的初始皮质反应不同，胱氨酸病患者在130-150 ms的时间窗内表现出明显更大的视觉诱发电位（VEP）。两组在神经反应和语言能力之间的关系上也存在差异：虽然智商得分较高的对照组表现出更大的神经反应，但在胱氨酸病中没有观察到这种关系。在胱氨酸病扩大的VEP可能是皮质过度兴奋和/或注意力参与的差异的结果，并解释，至少部分地，在这个人群中描述的视觉和视觉空间的困难。在线版本包含补充材料，可在10.1186/s13023-023-02985-y获得。
Cystinosis, a rare lysosomal storage disease caused by mutations in the CTNS gene, is characterized by cystine crystallization and accumulation within multiple tissues, including kidney and brain. Its impact on neural function appears mild relative to its effects on other organs during early disease, but since therapeutic advances have led to substantially increased life expectancy, neurological implications are of increasing interest, necessitating deeper understanding of the impact of cystinosis on neurocognitive function. Behavioral difficulties have been reported in cystinosis in the visual domain. Very little is known, however, about how the brains of people living with cystinosis process visual information. This is especially interesting given that cystine accumulation in the cornea and posterior ocular structures is a hallmark of cystinosis. Here, high-density scalp electrophysiology was recorded to visual stimuli (during a Go/No-Go task) to investigate visual processing in individuals with cystinosis, compared to age-matched controls. Analyses focused on early stages of cortical visual processing. The groups differed in their initial cortical response, with individuals with cystinosis exhibiting a significantly larger visual evoked potential (VEP) in the 130–150 ms time window. The groups also differed in the associations between neural responses and verbal abilities: While controls with higher IQ scores presented larger neural responses, that relationship was not observed in cystinosis. The enlarged VEP in cystinosis could be the result of cortical hyperexcitability and/or differences in attentional engagement and explain, at least partially, the visual and visual-spatial difficulties described in this population. The online version contains supplementary material available at 10.1186/s13023-023-02985-y.
影响因子：
4.2
作者：
Besouw, M. T. P.;Hulstijn-Dirkmaat, G. M.;van der Rijken, R. E. A.;Cornelissen, E. A. M.;van Dael, C. M.;Vande Walle, J.;Lilien, M. R.;Levtchenko, E. N.
通讯作者：
Levtchenko, E. N.
DOI：
10.1111/ejn.12523
发表时间：
2014-05
期刊：
The European journal of neuroscience
影响因子：
--
作者：
Frey HP;Schmid AM;Murphy JW;Molholm S;Lalor EC;Foxe JJ
通讯作者：
Foxe JJ