| H01600 | |
| H number | H01600 |
| 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 |
| Network | - |
| 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] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| 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] |
| Comment | - |
| Other DBs | ICD-11: 8A00 ICD-10: G20 G21 MeSH: D020734 |
| Reference | PMID:24092286 AUTHORS Williams DR, Litvan I TITLE Parkinsonian syndromes. JOURNAL Continuum (Minneap Minn) 19:1189-212 (2013) DOI:10.1212/01.CON.0000436152.24038.e0 PMID:18267242 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 PMID:15033141 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 PMID:18787878 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 PMID:19729209 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 PMID:23804577 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 PMID:25186792 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 PMID:26942284 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 |