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Article

An adult form of Alexander disease: a novel mutation in glial fibrillary acidic protein.

Journal of neurology - 1 Oct 2007

Ohnari K, Yamano M, Uozumi T, Hashimoto T, Tsuji S, Nakagawa M

Abstract excerpt

Glial fibrillary acidic protein (GFAP) mutation has been reported in Alexander disease. We report a patient with the adult form of Alexander disease who shows a novel mutation in GFAP. This case presented with progressive dysarthria, dysphagia and spastic gait on the right side. Brain and spinal cord MRI showed marked atrophy of the medulla oblongata and spinal cord. Abnormal high signal intensities in the...

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Source

Identifiers

PMID: 17934883
DOI: 10.1007/s00415-007-0557-0

Genes

GFAP

Variants

Provenance

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