Gass Jennifer M, Cheema Anvir, Jackson Jessica, Blackburn Patrick R, Van Gerpen Jay, Atwal Paldeep S
*Center for Individualized Medicine Departments of †Clinical Genomics ‡Neurology, Mayo Clinic, Jacksonville, FL.
Neurologist. 2017 Nov;22(6):247-248. doi: 10.1097/NRL.0000000000000153.
Alexander disease is a rare neurodegenerative disease caused by variants in the glial fibrillary acidic protein gene (GFAP). This disorder can develop as an infantile, juvenile or adult-onset form and is characterized by several clinical features, including macrocephaly, seizures, ataxia, and bulbar/pseudobulbar signs. While the majority of these patients have the more progressive infantile form which causes severe leukodystrophy and early death; the less common adult form is more variable (ie, onset age, symptoms), with bulbar dysfunction as the primary feature.
In our investigation, we describe a patient with progressive neuromuscular issues including dyspnea, dysphagia, dysarthria and progressive ataxia with palatal tremor.
Through genetic testing, we determined that our patient has a novel variant in GFAP typical of Alexander disease.
亚历山大病是一种由胶质纤维酸性蛋白基因（GFAP）变异引起的罕见神经退行性疾病。这种疾病可表现为婴儿型、青少年型或成人型，具有多种临床特征，包括巨头症、癫痫发作、共济失调以及延髓/假性延髓体征。虽然这些患者中的大多数患有进展性更强的婴儿型，会导致严重的脑白质营养不良和早期死亡；但较罕见的成人型则更具变异性（即发病年龄、症状），以延髓功能障碍为主要特征。
在我们的调查中，我们描述了一名患有进行性神经肌肉问题的患者，包括呼吸困难、吞咽困难、构音障碍以及伴有腭震颤的进行性共济失调。
通过基因检测，我们确定我们的患者在GFAP基因中有一个典型的亚历山大病新变异。
