KEGG   DISEASE: Parkinsonian syndrome
H01600                      Disease                                
Parkinsonian syndrome
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.
Neurodegenerative disease
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Movement disorders
   8A00  Parkinsonism
    H01600  Parkinsonian syndrome
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]
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
Williams DR, Litvan I
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Bonifati V
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Pezzoli G, Canesi M, Galli C
An overview of parkinsonian syndromes: data from the literature and from an Italian data-base.
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Genes associated with Parkinson syndrome.
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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
Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism.
Hum Mutat 34:1208-15 (2013)
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
Clinical, positron emission tomography, and pathological studies of DNAJC13 p.N855S Parkinsonism.
Mov Disord 29:1684-7 (2014)
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
Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy.
Am J Hum Genet 98:500-13 (2016)

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