Cystinosis is a rare genetic lysosomal storage disorder characterized by the accumulation of cystine in lysosomes. Many organ systems are vulnerable to this cystine accumulation including the CNS. A past study demonstrated that children with cystinosis have deficits in visual learning and memory while their verbal learning and memory and global intellectual function are spared (Spilkin, Ballantyne, & Trauner, 2009). However, no related study has been performed to assess the dissociation between visual and verbal learning and memory in adults with cystinosis who have had the benefit of longterm treatment with the cystine-depleting agent, cysteamine. In this study we assessed visual and verbal learning and memory in 15 adults with cystinosis, with a mean age of 30.2 years. The results indicate that adults with cystinosis have no significant deficits in either verbal or visual learning and memory. However, the individuals did perform better on the verbal assessment. The results suggest that if early and continued treatment is given to individuals with cystinosis there is a relative sparing of visual learning and memory that might have otherwise declined. This emphasizes the essential nature of the proper clinical management of cystinosis.

中文翻译：

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胱氨酸病的视觉和言语学习与记忆。

胱氨酸病是一种罕见的遗传溶酶体贮积病，其特征是胱氨酸在溶酶体中积累。许多器官系统都容易受到这种胱氨酸积累的影​​响，包括中枢神经系统。过去的研究表明，患有胱氨酸病的儿童在视觉学习和记忆方面存在缺陷，而他们的语言学习和记忆以及全球智力功能却无法得到满足（Spilkin，Balrantyne和Trauner，2009）。但是，尚未进行相关研究来评估患有胱氨酸病的成年人的视觉和言语学习与记忆之间的分离，这些成年人受益于使用胱氨酸消耗剂半胱胺进行长期治疗。在这项研究中，我们评估了15名平均年龄为30.2岁的膀胱孢子虫病成年人的视觉和言语学习与记忆能力。结果表明，患有囊虫病的成年人在语言或视觉学习和记忆上均没有明显的缺陷。但是，个人在口头评估中的表现确实更好。结果表明，如果对胱氨酸病个体进行早期和持续治疗，则视觉学习和记忆的相对减少可能会降低。这强调了正确进行胱氨酸病临床管理的本质。