Kotaro Yuge1, Munetsugu Hara1, Rumiko Okabe1, Yuki Nakamura1, Hisayoshi Okamura2, Shinichiro Nagamitsu1, Yushiro Yamashita1, Kenji Orimoto3, Masayasu Kojima4, Toyojiro Matsuishi5. 1. Department of Pediatrics and Child Health, Kurume University School of Medicine, 67 Asahi-machi, Kurume, Fukuoka 830-0011, Japan. 2. Cognitive and Molecular Institute of Brain Diseases, Kurume University School of Medicine, 67 Asahi-machi, Kurume, Fukuoka 830-0011, Japan. 3. Department of General Medicine, Fureai Higashitotuka Hospital, 16-8 Totukaku Kamishinano, Yokohama, Kanagawa 244-0806, Japan. 4. Department of Molecular Genetics, Institute of Life Science, Kurume University School of Medicine, Hyakunen-kouen 1-1, Kurume 839-0864, Japan. 5. Research Center for Children and Research Center for Rett syndrome, St. Mary's Hospital, 422 Tsubukuhonmachi, Kurume 830-8543, Japan. Electronic address: toyojiro@st-mary-med.or.jp.
Abstract
BACKGROUND: Dystonia occurs in approximately 60% of patients with Rett syndrome (RTT) and severely impairs their quality of life. However, an effective standard therapy has not been established. In a previous study, ghrelin levels were significantly decreased in patients with RTT, in particular, among patients over 10years old. This prompted speculation that ghrelin may play an important role in RTT. OBJECTIVES: Four patients, including two adults, with severe dystonia and tremor, were recruited. METHODS: Ghrelin was intravenously administered at a dose of 3μg/kg, once-daily for 3days, followed by once every 3weeks. Objective evaluation was performed, including scoring for different clinical features (SDCF), the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) and the Visual Analog Scale (VAS). RESULTS: The SDCF, BFMDRS, autonomic dysfunction and VAS scores were markedly improved in two patients with severe dystonia and head tremor. CONCLUSION: Ghrelin may improve extrapyramidal symptoms in patients with RTT.
BACKGROUND:Dystonia occurs in approximately 60% of patients with Rett syndrome (RTT) and severely impairs their quality of life. However, an effective standard therapy has not been established. In a previous study, ghrelin levels were significantly decreased in patients with RTT, in particular, among patients over 10years old. This prompted speculation that ghrelin may play an important role in RTT. OBJECTIVES: Four patients, including two adults, with severe dystonia and tremor, were recruited. METHODS:Ghrelin was intravenously administered at a dose of 3μg/kg, once-daily for 3days, followed by once every 3weeks. Objective evaluation was performed, including scoring for different clinical features (SDCF), the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) and the Visual Analog Scale (VAS). RESULTS: The SDCF, BFMDRS, autonomic dysfunction and VAS scores were markedly improved in two patients with severe dystonia and head tremor. CONCLUSION:Ghrelin may improve extrapyramidal symptoms in patients with RTT.