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Update on dopamine responsive dystonia by Mind Map: Update on dopamine responsive
dystonia
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Update on dopamine responsive dystonia

Classifications

Primary Dystonia

Dystonia Plus

DYT5, = dopa responsive dystonia

Neurodegenerative

sporadic

familial

etc..

Genes

GCH1 gen

Cause of DYT5

Dr. Segawa, Dystonia that alleviated during sleep and responded to levodopa

Dr. Nygaard, Dopa responsive dystonia

Dr. Calne

DRD

Familial,early-onset dystonia

Most cases autosomal dominant, some familie with recessive inheritance

Most families with mutation in GCH1 (autosomal dominant)

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

Rarely due to mutations in TH or SPR (autosomal recessive)

Articles, clot f et al Brain 2009, Furukawa et al Ann Neurol 2004, Bonafe et al Am j Hum Genet.