Article
Novel mutations in exon 6 of the GFAP gene affect a highly conserved if motif in the rod domain 2B and are associated with early onset infantile Alexander disease.
Neuropediatrics - 1 Jun 2007
Hartmann H, Herchenbach J, Stephani U, Ledaal P, Donnerstag F, Lücke T, Das A M, Christen H J, Hagedorn M, Meins M
Abstract excerpt
Alexander disease is a rare disorder of cerebral white matter due to a dysfunction of astrocytes. The most common infantile form presents as a megalencephalic leukodystrophy. Mutations of the GFAP gene, encoding Glial Fibrillary Acidic Protein, have been recognized as the cause of Alexander disea...
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