Adult-onset Alexander disease with typical "tadpole" brainstem atrophy and unusual bilateral basal ganglia involvement: a case report and review of the literature.

[alexander disease]

Alexander disease (ALX ) is a rare neurological disorder characterized by white matter degeneration and cytoplasmic inclusions in astrocytes called Rosenthal fibers , labeled by antibodies against glial fibrillary acidic protein (GFAP ). Three subtypes are distinguished according to age at onset : infantile (under age 2 ), juvenile (age 2 to 12 ) and adult (over age 12 ). Following the identification of heterozygous mutations in GFAP that cause this disease , cases of adult-onset ALX have been increasingly reported .We present a 60 -year -old Japanese man with an unremarkable past and no family history of ALX . After head trauma in a traffic accident at the age of 46 , his character changed , and dementia and dysarthria developed , but he remained independent . Spastic paresis and dysphagia were observed at age 57 and 59 , respectively , and worsened progressively . Neurological examination at the age of 60 revealed dementia , pseudobulbar palsy , left-side predominant spastic tetraparesis , axial rigidity , bradykinesia and gaze-evoked nystagmus . Brain MRI showed tadpole-like atrophy of the brainstem , caused by marked atrophy of the medulla oblongata , cervical spinal cord and midbrain tegmentum , with an intact pontine base . Analysis of the GFAP gene revealed a heterozygous missense mutation , c .827 G >T , p .R 276 L , which was already shown to be pathogenic in a case of pathologically proven hereditary adult-onset ALX .The typical tadpole-like appearance of the brainstem is strongly suggestive of adult-onset ALX , and should lead to a genetic investigation of the GFAP gene . The unusual feature of this patient is the symmetrical involvement of the basal ganglia , which is rarely observed in the adult form of the disease . More patients must be examined to confirm , clinically and neuroradiologically , extrapyramidal involvement of the basal ganglia in adult-onset ALX .

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Diseases presenting "dysarthria developed" symptom

alexander disease

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