[Adult onset Alexander disease with a novel variant (S398F) in the glial fibrillary acidic protein gene].

[alexander disease]

We report a 58 -year -old woman with adult onset Alexander disease . At the age of 54 she noticed numbness in bilateral legs and at 57 she developed left sided spastic gait . Her walking difficulty was gradually worsened and followed by the development of weakness in left arm , dysarthria and dysphagia . Her mother and elder brother also had similar clinical presentations which suggested an autosomal dominant neurological disorder . With MRI findings showing localized atrophy of medulla oblongata and upper cervical cord with hyperintensities on T 2 -weighted image , diagnosis of adult onset Alexander disease was made . We performed genetic analysis and found novel variant (S 398 F ) in the glial fibrillary acidic protein gene . In case of slowly progressive myelopathy with bulbar palsy of unknown origin , especially those with atrophy limited to medulla oblongata and upper cervical cord , adult onset Alexander disease should be taken into consideration .

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Diseases presenting "fibrillary acidic protein gene" symptom

alexander disease

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