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

doi:10.1007/s00415-011-6201-z

Article

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

Journal of neurology - 1 Mar 2012

Suzuki Hidekazu, Yoshida Tomokatsu, Kitada Mari, Ichihashi Juri, Sasayama Hiroshi, Nishikawa Yoshiro, Mistui Yoshiyuki, Nakagawa Masanori, Kusunoki Susumu

Abstract excerpt

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 V87L 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...

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

Abstract excerpt

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