Juvenile Alexander disease with a novel mutation in glial fibrillary acidic protein gene.
Sawaishi, Yukio MD, PhD; Yano, Tamami MD, PhD; Takaku, Iwao MD; Takada, Goro MD, PhD
58(10):1541-1543, May 28, 2002.
mdash;: Early-onset (infantile) Alexander disease is associated with mutations in the glial fibrillary acidic protein (GFAP) gene and two hot spots correlate to the severe phenotype. No molecular mechanisms have been elucidated in late-onset (juvenile) Alexander disease. The authors report a novelGFAPmutation in a patient with juvenile Alexander disease. The authors discuss similar molecular mechanisms in another intermediate filament disease and propose a possible molecular pathogenesis in juvenile Alexander disease.
(C) 2002 American Academy of Neurology