KEGG   DISEASE: Parkinsonian syndrome
Entry
H01600                      Disease                                

Name
Parkinsonian syndrome
Description
Parkinsonian syndromes (PS) are multisystemic diseases that produce not only motor and cognitive function impairment, but also other disorders that require the intervention of specialists other than the neurologist. PS include idiopathic Parkinson disease (PD), progressive supranuclear palsy (PSP), multiple system atrophy (MSA), corticobasal degeneration (CBD), and vascular Parkinsonism (VaP), among other rarer causes of parkinsonism. Point mutations, duplications and triplications in the alpha-synuclein gene cause a rare dominant form of PS in families. Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene have been identified as a much more common cause for dominant PS, especially in certain ethnic groups, while mutations in the parkin gene, in DJ-1, PINK1 and ATP13A2 cause autosomal recessive parkinsonism of early onset.
Category
Neurodegenerative disease
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Neurodegenerative diseases
   H01600  Parkinsonian syndrome
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Movement disorders
   8A00  Parkinsonism
    H01600  Parkinsonian syndrome
Related
pathway
hsa05022  Pathways of neurodegeneration
Gene
SNCA [HSA:6622] [KO:K04528]
LRRK2 [HSA:120892] [KO:K08844]
Parkin [HSA:5071] [KO:K04556]
PINK1 [HSA:65018] [KO:K05688]
DJ-1 [HSA:11315] [KO:K05687]
ATP13A2 [HSA:23400] [KO:K13526]
SYNJ1 [HSA:8867] [KO:K20279]
DNAJC13 [HSA:23317] [KO:K09533]
VPS13C [HSA:54832] [KO:K19525]
Env factor
MPTP [CPD:C04599]
Rotenone [CPD:C07593]
Maneb [CPD:C15231]
Paraquat [CPD:C14701]
Drug
Diphenhydramine hydrochloride [DR:D00669]
Trihexyphenidyl hydrochloride [DR:D00787]
Biperiden hydrochloride [DR:D02246]
Biperiden lactate [DR:D02247]
Profenamine hydrochloride [DR:D01118]
Benztropine mesylate [DR:D00778]
Levodopa [DR:D00059]
Carbidopa hydrate and levodopa [DR:D00253]
Amantadine hydrochloride [DR:D00777]
Tolcapone [DR:D00786]
Carbidopa [DR:D00558]
Other DBs
ICD-11: 8A00
ICD-10: G20 G21
MeSH: D020734
Reference
PMID:24092286 (description, drug)
  Authors
Williams DR, Litvan I
  Title
Parkinsonian syndromes.
  Journal
Continuum (Minneap Minn) 19:1189-212 (2013)
DOI:10.1212/01.CON.0000436152.24038.e0
Reference
  Authors
Bonifati V
  Title
Genetics of parkinsonism.
  Journal
Parkinsonism Relat Disord 13 Suppl 3:S233-41 (2007)
DOI:10.1016/S1353-8020(08)70008-7
Reference
  Authors
Pezzoli G, Canesi M, Galli C
  Title
An overview of parkinsonian syndromes: data from the literature and from an Italian data-base.
  Journal
Sleep Med 5:181-7 (2004)
DOI:10.1016/j.sleep.2003.10.009
Reference
  Authors
Biskup S, Gerlach M, Kupsch A, Reichmann H, Riederer P, Vieregge P, Wullner U, Gasser T
  Title
Genes associated with Parkinson syndrome.
  Journal
J Neurol 255 Suppl 5:8-17 (2008)
DOI:10.1007/s00415-008-5005-2
Reference
PMID:19729209 (env_factor)
  Authors
Cicchetti F, Drouin-Ouellet J, Gross RE
  Title
Environmental toxins and Parkinson's disease: what have we learned from pesticide-induced animal models?
  Journal
Trends Pharmacol Sci 30:475-83 (2009)
DOI:10.1016/j.tips.2009.06.005
Reference
  Authors
Quadri M, Fang M, Picillo M, Olgiati S, Breedveld GJ, Graafland J, Wu B, Xu F, Erro R, Amboni M, Pappata S, Quarantelli M, Annesi G, Quattrone A, Chien HF, Barbosa ER, Oostra BA, Barone P, Wang J, Bonifati V
  Title
Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism.
  Journal
Hum Mutat 34:1208-15 (2013)
DOI:10.1002/humu.22373
Reference
  Authors
Appel-Cresswell S, Rajput AH, Sossi V, Thompson C, Silva V, McKenzie J, Dinelle K, McCormick SE, Vilarino-Guell C, Stoessl AJ, Dickson DW, Robinson CA, Farrer MJ, Rajput A
  Title
Clinical, positron emission tomography, and pathological studies of DNAJC13 p.N855S Parkinsonism.
  Journal
Mov Disord 29:1684-7 (2014)
DOI:10.1002/mds.26019
Reference
  Authors
Lesage S, Drouet V, Majounie E, Deramecourt V, Jacoupy M, Nicolas A, Cormier-Dequaire F, Hassoun SM, Pujol C, Ciura S, Erpapazoglou Z, Usenko T, Maurage CA, Sahbatou M, Liebau S, Ding J, Bilgic B, Emre M, Erginel-Unaltuna N, Guven G, Tison F, Tranchant C, Vidailhet M, Corvol JC, Krack P, Leutenegger AL, Nalls MA, Hernandez DG, Heutink P, Gibbs JR, Hardy J, Wood NW, Gasser T, Durr A, Deleuze JF, Tazir M, Destee A, Lohmann E, Kabashi E, Singleton A, Corti O, Brice A
  Title
Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy.
  Journal
Am J Hum Genet 98:500-13 (2016)
DOI:10.1016/j.ajhg.2016.01.014

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