A case of adult-onset alexander disease featuring severe atrophy of the medulla oblongata and upper cervical cord on magnetic resonance imaging.

[alexander disease]

Adult-onset Alexander disease (AOAD ) has been increasingly recognized since the identification of the glial fibrillary acidic protein gene mutation in 2001 . We report on a 56 -year -old man who was genetically confirmed as AOAD with the glial fibrillary acidic protein mutation of p .M 74 T . He developed spastic tetraparesis , sensory disturbances in four limbs , and mild cognitive impairment without apparent dysarthria and dysphagia . The case was characterized by severe atrophy of the medulla oblongata and upper cervical cord with intramedullary signal intensity changes on magnetic resonance imaging . While AOAD is diverse in clinical presentation , the peculiar magnetic resonance imaging findings of marked atrophy of the medulla oblongata and cervical cord are thought to be highly suggestive of the diagnosis of AOAD .

Diseases
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Diseases presenting "fibrillary acidic protein mutation" symptom

alexander disease

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