Late-onset Alexander disease with a V87L mutation in glial fibrillary acidic protein (GFAP) and calcifying lesions in the sub-cortex and cortex.

[alexander disease]

Glial fibrillary acidic protein (GFAP ) mutation has been reported in Alexander disease . We report a 31 -year -old woman suffering from Alexander disease with a V 87 L mutation in GFAP . She showed psychomotor regression and a history of seizures , in addition to pendular nystagmus , dysarthria , spastic gait , and bladder dysfunction . Brain magnetic resonance imaging (MRI ) showed atrophy of the medulla oblongata and mild cervical cord atrophy , deep white matter abnormalities , periventricular rim , and signal changes of the medulla oblongata and dentate hilum . Sequence analysis of her GFAP gene showed a heterozygous c .273 G >C mutation predictive of a p .V 87 L amino acid substitution . We concluded that she was actually affected with Alexander disease . Twenty months later she fell down and sustained a head contusion . Urgent head computed tomography (CT ) showed calcification in the subcortical and cortical regions , which may relate to the psychomotor regression and history of seizures . Calcification in the subcortical and cortical regions on head CT has not been reported in Alexander disease ; this may be associated with a V 87 L mutation in GFAP .