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在 oculo-dento-digital 综合征中的深度神经现象定型

P Lopriore^1,2, M Vista¹, P Maritato¹

¹Unit of Neurology, San Luca Hospital, Lucca, Italy.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

|January 22, 2024

概括

眼牙数字形症 (ODDD) 中的神经问题经常被忽视. 这项研究确定了ODDD患者的特定神经和成像模式,突出了需要详细的表型化.

科学领域:

遗传学是一个遗传学.
神经学神经学
罕见疾病罕见疾病

背景情况:

眼牙数字形症 (ODDD) 是一种罕见的自体主导性疾病,其对个体的影响方式具有显著的变化.
大约三分之一的ODDD病例报告有神经症状,但缺乏全面的研究.

研究的目的:

在一个ODDD家族中对10名患者进行深入的神经评估.
确定与ODDD相关的特征性神经和神经放射学特征.

主要方法:

一个三代家族具有特定的GJA1基因突变的回顾性分析 (c.416 T>C, p.
评估了临床和神经放射学数据,包括大脑MRI和患者子集的视觉唤起潜力.

主要成果:

在5名患者中观察到中枢神经系统的参与,主要呈现为动力衰竭和/或性.
功能障碍 (神经性膀,便失禁) 是大多数受影响个体的早期症状.
所有患者都显示出亚临床的光学通路变化,神经成像显示出低髓化和上大脑小脚的超强度.

结论:

神经学参与ODDD经常被低估,但表现出不同的临床和放射学模式.
详细的神经现象定型对于理解ODDD的复杂性和建立基因型-现象型相关性至关重要.

关键词:

深度表型化 (deep phenotyping) 是一种深度表型化.神经遗传学神经遗传学眼睛牙数字形症.

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