临床表现 临床表现
1Erciyes University School Of Medicine, Department of Neurology, Kayseri, Turkey.
Alzheimer's & dementia : the journal of the Alzheimer's Association
|December 25, 2025
概括
与X相关的上腺核缩症 (X-ALD) 可以在患有认知衰退和神经问题的成年人中出现. 基因分析证实了ABCD1基因突变,强调了识别成人发病X-ALD.的重要性.
科学领域:
- 神经学 神经学
- 遗传学 是一个遗传学.
- 罕见疾病 罕见疾病
背景情况:
- 与X相关的上腺核缩症 (X-ALD) 是一种常见的影响男性的过氧体疾病,由ABCD1基因突变引起.
- 虽然X-ALD通常在儿童时期出现,但可以在以后的生活中表现为认知和行为症状.
研究的目的:
- 报告一名47岁男性晚期发病的X链接上腺核病变的情况.
- 突出成人发 X-ALD. 的不同临床表现.
主要方法:
- 基因分析发现了ABCD1基因 (c.761C>T和p.T254M) 中的一种同卵性突变.
- 进行了临床和神经学检查,包括脑部MRI.
主要成果:
- 该患者经历了12年的认知衰退,步态障碍,视力障碍和性病史.
- 大脑MRI显示了广泛的白质变化和全球皮质缩.
- 内分泌检测显示没有显著的异常.
结论:
- 在成年人中,与X相关的 adrenoleukodystrophy 很少会出现进展性白质疾病.
- 成人发病的X-ALD可能表现为各种临床症状,包括痴呆症.
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