家族性成人起病型亚历山大病：三例临床及神经影像学表现
Familial Adult-onset Alexander Disease: Clinical and Neuroradiological Findings of Three Cases.
作者信息
Elmali Ayşe Deniz, Çetinçelik Ümran, Işlak Civan, Uzun Adatepe Nurten, Karaali Savrun Feray, Yalçinkaya Cengiz
机构信息
Department of Neurology, İstanbul University Cerrahpaşa School of Medicine, İstanbul, Turkey.
Clinic of Genetics, İstanbul Training and Research Hospital, İstanbul, Turkey.
出版信息
Noro Psikiyatr Ars. 2016 Jun;53(2):169-172. doi: 10.5152/npa.2015.10193. Epub 2016 Jun 1.
Abstract
The adult-onset Alexander disease (AOAD) dramatically differs from the early onset AD with respect to clinical and neuroradiological findings. Herein we report the detailed clinical and neuroradiological findings of a Turkish family with AOAD. In all three cases, magnetic resonance imaging revealed marked atrophy of the mesencephalon, bulbus, and cervical spinal cord accompanied with signal abnormalities in the same regions along with supratentorial white matter. Basal ganglia were affected in two cases. Molecular genetic analysis revealed heterozygous mutation in the 8th exon of the glial fibrillary acidic protein gene M451I (c.1245G>A), leading to the diagnosis of AOAD in all cases.
摘要
成人型亚历山大病（AOAD）在临床和神经放射学表现方面与早发型亚历山大病显著不同。在此，我们报告一个患有AOAD的土耳其家族的详细临床和神经放射学表现。在所有三例病例中，磁共振成像显示中脑、延髓和颈髓明显萎缩，同时在相同区域以及幕上白质伴有信号异常。两例病例的基底神经节也受到影响。分子遗传学分析显示胶质纤维酸性蛋白基因第8外显子存在杂合突变M451I（c.1245G>A），这使得所有病例均被诊断为AOAD。
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