2. Academic Validation
  3. TRH therapy in a patient with juvenile Alexander disease

TRH therapy in a patient with juvenile Alexander disease

  • Brain Dev. 2006 Nov;28(10):663-7. doi: 10.1016/j.braindev.2006.05.001.
Keiko Ishigaki 1,  Yasushi Ito,  Yukio Sawaishi,  Kayano Kodaira,  Makoto Funatsuka,  Nozomi Hattori,  Kazutoshi Nakano,  Kayoko Saito,  Makiko Osawa
Affiliations

Affiliation

  • 1 Tokyo Women's Medical University, School of Medicine, Department of Pediatrics, 8-1 Kawadacho, 162-8666 Shinjuku-ku, Tokyo, Japan. [email protected]
PMID: 16774812 DOI: 10.1016/j.braindev.2006.05.001
Abstract

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 treating this patient with thyrotropin releasing hormone (TRH).

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