KEGG   DISEASE: H00831Help
Entry
H00831                      Disease                                

Name
Primary dystonia
Description
Dystonias are a heterogeneous group of hyperkinetic movement disorders characterized by involuntary sustained muscle contractions that lead to abnormal postures and repetitive movements. Presently, 20 distinct monogenic primary dystonias have been recognized. They can be divided into Primary torsin dystonias (PTDs), dystonia-plus syndromes without brain degeneration, dystonia-parkinsonism
with brain degeneration (i.e. DYT3), and paroxysmal dyskinesias.
Category
Nervous system disease
BRITE hierarchy
Pathway
Tyrosine metabolism
Folate biosynthesis
Cardiac muscle contraction
Dopaminergic synapse
Bile secretion
Adipocytokine signaling pathway
Gene
(DYT1) TOR1A [HSA:1861]
(DYT3) TAF1 [HSA:6872] [KO:K03125]
(DYT6) THAP1 [HSA:55145]
(DYT5) GCH1 [HSA:2643] [KO:K01495]
(DRD) SPR [HSA:6697] [KO:K00072]
(THD) TH [HSA:7054] [KO:K00501]
(DYT11) SGCE [HSA:8910]
(DYT12) ATP1A3 [HSA:478] [KO:K01539]
(DYT16) PRKRA [HSA:8575]
(DYT8) MR1 [HSA:25953]
(DYT18) GLUT1 [HSA:6513] [KO:K07299]
Other DBs
Reference
PMID:22030388 (description, gene)
  Authors
Phukan J, Albanese A, Gasser T, Warner T
  Title
Primary dystonia and dystonia-plus syndromes: clinical characteristics, diagnosis, and pathogenesis.
  Journal
Lancet Neurol 10:1074-85 (2011)
Reference
PMID:20425035 (description, gene)
  Authors
Bruggemann N, Klein C
  Title
Genetics of primary torsion dystonia.
  Journal
Curr Neurol Neurosci Rep 10:199-206 (2010)
Reference
  Authors
Muller U
  Title
The monogenic primary dystonias.
  Journal
Brain 132:2005-25 (2009)
Reference
PMID:21907099 (description, gene)
  Authors
Barrett MJ, Bressman S
  Title
Genetics and pharmacological treatment of dystonia.
  Journal
Int Rev Neurobiol 98:525-49 (2011)

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