Splicing mutations of GALC in adult patient with adult-onset Krabbe disease: case report and review of literature.

IF 0.6 4区医学 Q4 CLINICAL NEUROLOGY

Neurocase Pub Date : 2024-04-01 Epub Date: 2024-05-18 DOI:10.1080/13554794.2024.2354541

Yilin Su, Lijian Wei, Lan Wang, Pingyi Xu, Mingshu Mo

引用次数: 0

Abstract

Krabbe disease (KD) is classed as the lysosomal storage disease with mutations in the galactosylceramidase (GALC) gene, and commonly showed as autosomal recessive pattern with 30-kb deletion in infantile subtype. In this case, we report a 39-years adult-onset KD (AOKD) patient with multiple sclerosis-like symptoms and neuroimaging changes. She carries the heterozygous mutations in GALC included a missense mutation of c.1901T>C from her mother, and a splicing mutation of c.908+5G>A from her father. The splicing mutations in KD are reviewed and confirmed that c.908+5G>A is a novel splicing mutation in AOKD.

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成人型克拉伯病患者的 GALC 剪接突变：病例报告和文献综述。

克拉伯病（KD）被归类为半乳糖基甘油糖苷酶（GALC）基因突变的溶酶体储积病，在婴儿亚型中通常表现为常染色体隐性遗传，基因缺失30kb。在本病例中，我们报告了一名 39 岁的成人型 KD（AOKD）患者，她具有多发性硬化症样症状和神经影像学改变。她携带 GALC 的杂合突变，包括来自母亲的 c.1901T>C 的错义突变和来自父亲的 c.908+5G>A 的剪接突变。我们回顾了 KD 的剪接突变，证实 c.908+5G>A 是 AOKD 的新型剪接突变。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Neurocase 医学-精神病学

CiteScore

1.40

自引率

12.50%

发文量

审稿时长

6-12 weeks

期刊介绍： Neurocase is a rapid response journal of case studies and innovative group studies in neuropsychology, neuropsychiatry and behavioral neurology that speak to the neural basis of cognition. Four types of manuscript are considered for publication: single case investigations that bear directly on issues of relevance to theoretical issues or brain-behavior relationships; group studies of subjects with brain dysfunction that address issues relevant to the understanding of human cognition; reviews of important topics in the domains of neuropsychology, neuropsychiatry and behavioral neurology; and brief reports (up to 2500 words) that replicate previous reports dealing with issues of considerable significance. Of particular interest are investigations that include precise anatomical localization of lesions or neural activity via imaging or other techniques, as well as studies of patients with neurodegenerative diseases, since these diseases are becoming more common as our population ages. Topic reviews are included in most issues.