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临床变异和神经成像模式在单胞胎双胞胎与停止的X链接上腺核缩:一个案例报告

Trevor A Leon¹, Steve M Nelson^2,3, Alex Gilman⁴

¹Department of Clinical Neurosciences, Boonshoft School of Medicine, Wright State University, Dayton, USA.

|July 22, 2025

概括

患有X链 adrenoleukodystrophy (ALD) 的同卵双胞胎表现出不同的症状严重程度,尽管具有相同的ABCD1基因突变. 这突出了潜在的非基因组因素影响ALD进展和表现.

科学领域:

神经学神经学
遗传学是一个遗传学.
过氧体性疾病过氧体性疾病

背景情况:

与X相关的上腺核衰竭 (ALD) 是一种遗传性疾病,其特征是神经和上腺组织中存在非常长链脂肪酸的积累.
ALD影响男性,并可能导致严重的神经功能障碍和上腺功能不充分.

关键词:

一个abdc1基因突变.临床变化的临床变化.图像成像的变化变化.双胞胎是一卵性双胞胎.链接到x的 adrenoleukodystrophy ( adrenoleukodystrophy) 已经成为一种常见的疾病.与x相关的上腺核衰竭 (x-ald)

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