Adult Alexander disease with autosomal dominant transmission: a distinct entity caused by mutation in the glial fibrillary acid protein gene.

@article{Stumpf2003AdultAD,
  title={Adult Alexander disease with autosomal dominant transmission: a distinct entity caused by mutation in the glial fibrillary acid protein gene.},
  author={Erika Stumpf and H{\'e}l{\`e}ne Masson and Antoine Duquette and France Berthelet and Julia E McNabb and Anne Lortie and Jacques Lesage and Jacques Y. Montplaisir and Bernard Brais and Patrick Cossette},
  journal={Archives of neurology},
  year={2003},
  volume={60 9},
  pages={1307-12}
}
BACKGROUND Infantile and juvenile forms of Alexander disease are well characterized and are caused by de novo mutations in the glial fibrillary acid protein (GFAP) gene. In contrast, the adult form of the disease has been rarely described, and the etiology of this variant remains unknown. OBJECTIVE To characterize the clinical phenotype and identify the gene causing an autosomal dominant form of adult Alexander disease. METHODS We identified a large kindred segregating clinical features… CONTINUE READING
26 Extracted Citations
0 Extracted References
Similar Papers

Citing Papers

Publications influenced by this paper.
Showing 1-10 of 26 extracted citations

Similar Papers

Loading similar papers…