1. Classifications
1.1. Primary Dystonia
1.2. Dystonia Plus
1.2.1. DYT5
1.2.1.1. = dopa responsive dystonia
1.3. Neurodegenerative
1.3.1. sporadic
1.3.2. familial
1.4. etc..
2. Genes
2.1. GCH1 gen
2.1.1. Cause of DYT5
2.1.2. Dr. Segawa
2.1.2.1. Dystonia that alleviated during sleep and responded to levodopa
2.1.3. Dr. Nygaard
2.1.3.1. Dopa responsive dystonia
2.1.4. Dr. Calne
3. DRD
3.1. Familial,early-onset dystonia
3.2. Most cases autosomal dominant, some familie with recessive inheritance
3.3. Most families with mutation in GCH1 (autosomal dominant)
3.3.1. Segawa's Disease
3.3.1.1. 1-5 / million
3.3.1.2. Higher penetrance in women
3.3.1.2.1. 4:1
3.3.1.2.2. Women affected more severly than men
3.3.1.2.3. Lower striatal baseline GCH1 expression in female rodents
3.3.1.2.4. Could lower GTPCH baseline levels in women explain skewed gender distribution?
3.3.1.2.5. articles
3.3.1.3. Childhood onset foot dystionia, diurnal fluctiations
3.3.1.4. Marked and sustained response to L-Dopa
3.3.1.5. Generalization dystonia, tremor, parkinsonism
3.3.1.6. Most cases due to mutations in GCH-1
3.3.1.7. No mutations found in 20-40% of families
3.3.2. Segawa et a ann. neurol 2003
3.3.3. Differential diagnosis
3.3.3.1. Venna et al NEJM 2006
3.3.3.2. Table 3
3.3.3.3. in patients with later onset:
3.3.3.3.1. EOPD (e.g PARK 2)
3.3.3.3.2. PD
3.3.3.4. Diagnosis
3.3.3.4.1. Fluorodopa PET
3.3.3.4.2. CSF studies
3.3.3.4.3. Phenylalanine test
3.4. Rarely due to mutations in TH or SPR (autosomal recessive)
3.4.1. Articles
3.4.1.1. clot f et al Brain 2009, Furukawa et al Ann Neurol 2004, Bonafe et al Am j Hum Genet.