神经状体脂症11 (CLN11) 呈现出早期发生的杆形和学习困难
Gustavo Maximiano-Alves1, Renata do Amaral Moreto Caravelas2, Trajano Aguiar Pires Gonçalves1
1Department of Neuroscience and Behavioural Sciences, School of Medicine at Ribeirão Preto, University of São Paulo, Bandeirantes Av. 3900, Ribeirão Preto, São Paulo, 14040-900, Brazil.
Neurogenetics
|January 15, 2025
概括
神经状体脂症11 (CLN11) 是一种罕见的神经退行性疾病. 这个案例扩展了已知的CLN11表型,突出了其复杂的早期发病表现.
科学领域:
- 神经遗传学 神经遗传学
- 罕见疾病是一种罕见的疾病.
- 神经退行性疾病 神经退行性疾病
背景情况:
- 神经质脂症11 (CLN11) 是一种极为罕见的成人发病的神经退行性疾病.
- 临床谱和CLN11的表型尚未完全表征.
- 了解CLN11对于诊断和管理这种极为罕见的疾病至关重要.
研究的目的:
- 描述一个具有早期发病复杂表型的CLN11独特病例.
- 为了确定对该患者观察到的症状负责的遗传变异.
- 为了解CLN11临床频谱做出贡献.
主要方法:
- 神经学和神经心理学评估.
- 神经眼科检查和脑部核磁共振.
- 电脑电图 (EEG) 和整个外体序列测序.
主要成果:
- 一名21岁的男性出现学习困难,小脑,杆,和 dystonia.
- 整体外基因组测序在CLN11基因中发现了一个同卵性框架转移变体 (NM_002087.4:c.768_769dup;p.Gln257Profs*27).
- 鉴定出的变异扩大了已知的CLN11的基因型和表型谱.
结论:
- 这种病例扩大了已知的神经质脂症的临床谱线11.
- 详细的表型和遗传分析对于理解像CLN11这样的罕见疾病至关重要.
- 进一步的病例报告对于全面了解CLN11变异性至关重要.
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