The ocular motor features of adult-onset alexander disease: a case and review of the literature.
The ocular motor features of adult-onset alexander disease: a case and review of the literature.
复制标题
成人发病的亚历山大病的眼部运动特征：病例及文献综述。
DOI：
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发表时间：
2011
影响因子：
2.9
通讯作者：
J. Barton
中科院分区：
文献类型：
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作者：
G. Pfeffer;M. Abegg;A. Vertinsky;I. Ceccherini;F. Caroli;J. Barton
1例51岁中国男性患者，临床表现为凝视诱发眼球震颤、眼球平稳追踪障碍、前庭眼球反射消失、眼球跳动困难，并伴有晚发型常染色体显性帕金森综合征家族史。MRI显示了典型的成人起病的亚历山大病的延髓和颈髓的异常，基因测试显示编码胶质纤维酸性蛋白的基因中的p.D295N多态等位基因是纯合的。文献回顾显示，成人发病的Alexander病的眼部体征常见，最常见的是凝视诱发的眼球震颤、钟摆性眼球震颤和/或眼腭肌阵挛，较少见的是上睑下垂、斜视和眼球跳动困难。这些体征与成人起病的亚历山大病在神经影像上引起髓质异常的倾向一致。
A 51-year-old Chinese man presented with gaze-evoked nystagmus, impaired smooth pursuit and vestibular ocular reflex cancellation, and saccadic dysmetria, along with a family history suggestive of late-onset autosomal dominant parkinsonism. MRI revealed abnormalities of the medulla and cervical spinal cord typical of adult-onset Alexander disease, and genetic testing showed homozygosity for the p.D295N polymorphic allele in the gene encoding the glial fibrillary acidic protein. A review of the literature shows that ocular signs are frequent in adult-onset Alexander disease, most commonly gaze-evoked nystagmus, pendular nystagmus, and/or oculopalatal myoclonus, and less commonly ptosis, miosis, and saccadic dysmetria. These signs are consistent with the propensity of adult-onset Alexander disease to cause medullary abnormalities on neuroimaging.