DYT5, = dopa responsive dystonia
Cause of DYT5
Dr. Segawa, Dystonia that alleviated during sleep and responded to levodopa
Dr. Nygaard, Dopa responsive dystonia
Segawa's Disease, 1-5 / million, Higher penetrance in women, 4:1, Women affected more severly than men, Lower striatal baseline GCH1 expression in female rodents, Could lower GTPCH baseline levels in women explain skewed gender distribution?, articles, furukawa 1998, neurology, shimoji et al neurochemistry, wider c et al neuroscience letter 2009, Grotzsch h et al neurology 2002, pathology, Childhood onset foot dystionia, diurnal fluctiations, Marked and sustained response to L-Dopa, Generalization dystonia, tremor, parkinsonism, Most cases due to mutations in GCH-1, No mutations found in 20-40% of families
Segawa et a ann. neurol 2003
Differential diagnosis, Venna et al NEJM 2006, Table 3, in patients with later onset:, EOPD (e.g PARK 2), PD, Diagnosis, Fluorodopa PET, CSF studies, Reduced levels of homovanillic acid, Reduced levels of pteridine metabolites, neopterine, biopterine, Phenylalanine test
Articles, clot f et al Brain 2009, Furukawa et al Ann Neurol 2004, Bonafe et al Am j Hum Genet.