TRH therapy in a patient with juvenile Alexander disease
K Ishigaki, Y Ito, Y Sawaishi, K Kodaira… - Brain and …, 2006 - Elsevier
Alexander disease is a rare disorder of the central nervous system caused by a de novo
mutation in the glial fibrillary acidic protein (GFAP) gene. Unlike the much more common
infantile form, the juvenile form is slowly progressive with bulbar, pyramidal and cerebellar
signs. Herein, we report a 9-year old Japanese girl suffering from frequent vomiting, slurred
speech and truncal ataxia. Juvenile Alexander disease was diagnosed by genetic analysis,
which detected a novel GFAP mutation, D360V. We also describe our clinical success in …
mutation in the glial fibrillary acidic protein (GFAP) gene. Unlike the much more common
infantile form, the juvenile form is slowly progressive with bulbar, pyramidal and cerebellar
signs. Herein, we report a 9-year old Japanese girl suffering from frequent vomiting, slurred
speech and truncal ataxia. Juvenile Alexander disease was diagnosed by genetic analysis,
which detected a novel GFAP mutation, D360V. We also describe our clinical success in …