Article
Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation.
American journal of human genetics - 1 Nov 2001
Rodriguez D, Gauthier F, Bertini E, Bugiani M, Brenner M, N'guyen S, Goizet C, Gelot A, Surtees R, Pedespan J M, Hernandorena X, Troncoso M, Uziel G, Messing A, Ponsot G, Pham-Dinh D, Dautigny A, Boespflug-Tanguy O
Abstract excerpt
Heterozygous, de novo mutations in the glial fibrillary acidic protein (GFAP) gene have recently been reported in 12 patients affected by neuropathologically proved Alexander disease. We searched for GFAP mutations in a series of patients who had heterogeneous clinical symptoms but were candidates for Alexander disease on the basis of suggestive neuroimaging abnormalities. Missense, heterozygous, de novo GFAP...
Topics
- Adolescent
- Adult
- Age of Onset
- Base Sequence
- Brain
- Brain Diseases
- Child
- Child, Preschool
- Exons
- Genotype
- Glial Fibrillary Acidic Protein