KEGG   DISEASE: Primary dystoniaHelp
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
Human diseases [BR:br08402]
 Nervous system diseases
  Other nervous and sensory system diseases
   H00831  Primary dystonia
Human diseases in ICD-10 classification [BR:br08403]
 6. Diseases of the nervous system (G00-G99)
  G20-G26  Extrapyramidal and movement disorders
   G24  Dystonia
    H00831  Primary dystonia
BRITE hierarchy
Pathway
Tyrosine metabolism
Folate biosynthesis
Cardiac muscle contraction
Dopaminergic synapse
Bile secretion
Adipocytokine signaling pathway
Gene
(DYT1) TOR1A [HSA:1861]
(DYT2) HPCA [HSA:3208]
(DYT3) TAF1 [HSA:6872] [KO:K03125]
(DYT5) GCH1 [HSA:2643] [KO:K01495]
(DYT6) THAP1 [HSA:55145]
(DYT8) MR1 [HSA:25953]
(DYT10) PRRT2 [HSA:112476]
(DYT11) SGCE [HSA:8910]
(DYT12) ATP1A3 [HSA:478] [KO:K01539]
(DYT16) PRKRA [HSA:8575]
(DYT18) GLUT1 [HSA:6513] [KO:K07299]
(DYT23) CACNA1B [HSA:774] [KO:K04849]
(DYT24) ANO3 [HSA:63982] [KO:K19498]
(DYT25) GNAL [HSA:2774] [KO:K04633]
(DYT26) KCTD17 [HSA:79734] [KO:K21914]
(DYT27) COL6A3 [HSA:1293] [KO:K06238]
(DRD) SPR [HSA:6697] [KO:K00072]
(THD) TH [HSA:7054] [KO:K00501]
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)
DOI:10.1016/S1474-4422(11)70232-0
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)
DOI:10.1007/s11910-010-0107-5
Reference
  Authors
Muller U
  Title
The monogenic primary dystonias.
  Journal
Brain 132:2005-25 (2009)
DOI:10.1093/brain/awp172
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)
DOI:10.1016/B978-0-12-381328-2.00019-5
Reference
PMID:25799108 (gene)
  Authors
Charlesworth G, Angelova PR, Bartolome-Robledo F, Ryten M, Trabzuni D, Stamelou M, Abramov AY, Bhatia KP, Wood NW
  Title
Mutations in HPCA cause autosomal-recessive primary isolated dystonia.
  Journal
Am J Hum Genet 96:657-65 (2015)
DOI:10.1016/j.ajhg.2015.02.007
Reference
PMID:25296916 (gene)
  Authors
Groen JL, Andrade A, Ritz K, Jalalzadeh H, Haagmans M, Bradley TE, Jongejan A, Verbeek DS, Nurnberg P, Denome S, Hennekam RC, Lipscombe D, Baas F, Tijssen MA
  Title
CACNA1B mutation is linked to unique myoclonus-dystonia syndrome.
  Journal
Hum Mol Genet 24:987-93 (2015)
DOI:10.1093/hmg/ddu513
Reference
PMID:23200863 (gene)
  Authors
Charlesworth G, Plagnol V, Holmstrom KM, Bras J, Sheerin UM, Preza E, Rubio-Agusti I, Ryten M, Schneider SA, Stamelou M, Trabzuni D, Abramov AY, Bhatia KP, Wood NW
  Title
Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis.
  Journal
Am J Hum Genet 91:1041-50 (2012)
DOI:10.1016/j.ajhg.2012.10.024
Reference
PMID:23222958 (gene)
  Authors
Fuchs T, Saunders-Pullman R, Masuho I, Luciano MS, Raymond D, Factor S, Lang AE, Liang TW, Trosch RM, White S, Ainehsazan E, Herve D, Sharma N, Ehrlich ME, Martemyanov KA, Bressman SB, Ozelius LJ
  Title
Mutations in GNAL cause primary torsion dystonia.
  Journal
Nat Genet 45:88-92 (2013)
DOI:10.1038/ng.2496
Reference
PMID:25983243 (gene)
  Authors
Mencacci NE, Rubio-Agusti I, Zdebik A, Asmus F, Ludtmann MH, Ryten M, Plagnol V, Hauser AK, Bandres-Ciga S, Bettencourt C, Forabosco P, Hughes D, Soutar MM, Peall K, Morris HR, Trabzuni D, Tekman M, Stanescu HC, Kleta R, Carecchio M, Zorzi G, Nardocci N, Garavaglia B, Lohmann E, Weissbach A, Klein C, Hardy J, Pittman AM, Foltynie T, Abramov AY, Gasser T, Bhatia KP, Wood NW
  Title
A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia.
  Journal
Am J Hum Genet 96:938-47 (2015)
DOI:10.1016/j.ajhg.2015.04.008
Reference
PMID:26004199 (gene)
  Authors
Zech M, Lam DD, Francescatto L, Schormair B, Salminen AV, Jochim A, Wieland T, Lichtner P, Peters A, Gieger C, Lochmuller H, Strom TM, Haslinger B, Katsanis N, Winkelmann J
  Title
Recessive mutations in the alpha3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.
  Journal
Am J Hum Genet 96:883-93 (2015)
DOI:10.1016/j.ajhg.2015.04.010

» Japanese version

DBGET integrated database retrieval system