一例因 DCX 基因突变导致的典型无脑畸形病例，其增厚的大脑皮层中出现了 "末端毛发"。

IF 2.7 4区医学 Q2 CLINICAL NEUROLOGY

Neurological Sciences Pub Date : 2025-04-07 DOI:10.1007/s10072-025-08163-1

Sameer Peer, Arvinder Wander, Ankit Kumar Meena

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引用次数: 0

摘要

X 连锁无脑畸形与位于 X 染色体上的 DCX 基因的半杂合子突变有关。DCX 基因突变会导致男性出现典型的无脑畸形，而女性则会出现皮层下异位症。神经元迁移停滞导致畸形，停滞的神经元沿着脑室周围和皮层之间的神经元迁移路径移动。脑裂病例的弥散张量成像显示，皮层内的纤维呈 "毛发末端 "模式的放射状异常排列。我们在一例因 DCX 基因致病性突变而导致的无脑畸形病例中展示了增厚皮层内纤维的 "发端-发端 "模式，该突变已在下一代全外显子组测序中得到证实。

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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"Hair-on-end" appearance in thickened cortex in a case of classic lissencephaly due to DCX gene mutation.

X-linked lissencephaly is associated with a hemizygous mutation in DCX gene located on the X-chromosome. DCX mutation causes classic lissencephaly in males and subcortical laminar heterotopia in females. Neuronal migration arrest leads to pachygyria and the arrested neurons are noted along the path of neuronal migration between the periventricular region and the cortex. Diffusion tensor imaging in cases of lissencephaly shows abnormal radial arrangement of fibers within the cortex in a "hairon-end" pattern. We demonstrate this "hair-on-end" pattern of fibers within the thickened cortex in a case of lissencephaly due to a pathogenic mutation in DCX gene confirmed on next generation whole exome sequencing.

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来源期刊

Neurological Sciences 医学-临床神经学

CiteScore

6.10

自引率

3.00%

发文量

743

审稿时长

4 months

期刊介绍： Neurological Sciences is intended to provide a medium for the communication of results and ideas in the field of neuroscience. The journal welcomes contributions in both the basic and clinical aspects of the neurosciences. The official language of the journal is English. Reports are published in the form of original articles, short communications, editorials, reviews and letters to the editor. Original articles present the results of experimental or clinical studies in the neurosciences, while short communications are succinct reports permitting the rapid publication of novel results. Original contributions may be submitted for the special sections History of Neurology, Health Care and Neurological Digressions - a forum for cultural topics related to the neurosciences. The journal also publishes correspondence book reviews, meeting reports and announcements.