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临床表现 临床表现

Murat Gultekin1

  • 1Erciyes University School Of Medicine, Department of Neurology, Kayseri, Turkey.

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概括
此摘要是机器生成的。

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.

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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.