U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Parkinson disease(PD)

MedGen UID:
10590
Concept ID:
C0030567
Disease or Syndrome
Synonym: PD
SNOMED CT: Idiopathic Parkinson's disease (49049000); Parkinson disease (49049000); PD - Parkinson's disease (49049000); Parkinsons disease (49049000); Primary Parkinsonism (49049000); Idiopathic Parkinsonism (49049000); Parkinson's disease (49049000); Paralysis agitans (49049000); Shaking palsy (49049000)
 
Related genes: LRRK2, PINK1, VPS35, HTRA2, GIGYF2, FBXO7, ATP13A2, PARK7, SNCAIP, PLA2G6, UCHL1, TBP, SNCA, ATXN8OS, ATXN2, PRKN, NR4A2, TRNT, ATXN3, MAPT, GBA1, ADH1C
 
Monarch Initiative: MONDO:0005180
OMIM®: 516000
OMIM® Phenotypic series: PS168600
Orphanet: ORPHA319705

Definition

Parkinson disease (PD) was first described by James Parkinson in 1817. It is the second most common neurodegenerative disorder after Alzheimer disease (AD; 104300), affecting approximately 1% of the population over age 50 (Polymeropoulos et al., 1996). Reviews Warner and Schapira (2003) reviewed the genetic and environmental causes of Parkinson disease. Feany (2004) reviewed the genetics of Parkinson disease and provided a speculative model of interactions among proteins implicated in PD. Lees et al. (2009) provided a review of Parkinson disease, with emphasis on diagnosis, neuropathology, and treatment. Genetic Heterogeneity of Parkinson Disease Several loci for autosomal dominant Parkinson disease have been identified, including PARK1 (168601) and PARK4, caused by mutation in or triplication of the alpha-synuclein gene (SNCA; 163890), respectively, on 4q22; PARK5 (191342), caused by mutation in the UCHL1 gene on 4p13; PARK8 (607060), caused by mutation in the LRRK2 gene (609007) on 12q12; PARK11 (607688), caused by mutation in the GIGYF2 gene (612003) on 2q37; PARK13 (610297), caused by mutation in the HTRA2 gene (606441) on 2p13; PARK17 (614203), caused by mutation in the VPS35 gene (601501) on 16q11; PARK18 (614251), caused by mutation in the EIF4G1 gene (600495) on 3q27; PARK22 (616710), caused by mutation in the CHCHD2 gene (616244) on 7p11; PARK24 (619491), caused by mutation in the PSAP gene (176801) on 10q22; and PARK26 (620923), caused by mutation in the RAB32 gene (612906) on chromosome 6q24. Several loci for autosomal recessive early-onset Parkinson disease have been identified: PARK2 (600116), caused by mutation in the gene encoding parkin (PRKN, PARK2; 602544) on 6q26; PARK6 (605909), caused by mutation in the PINK1 gene (608309) on 1p36; PARK7 (606324), caused by mutation in the DJ1 gene (PARK7; 602533) on 1p36; PARK14 (612953), caused by mutation in the PLA2G6 gene (603604) on 22q13; PARK15 (260300), caused by mutation in the FBXO7 gene (605648) on 22q12.3; PARK19A (615528) and PARK19B (see 615528), caused by mutation in the DNAJC6 gene (608375) on 1p31.3; PARK20 (615530), caused by mutation in the SYNJ1 gene (604297) on 21q22; and PARK23 (616840), caused by mutation in the VPS13C gene (608879) on 15q22; and PARK25 (620482), caused by mutation in the PTPA gene (600756) on 9q34. PARK3 (602404) has been mapped to chromosome 2p13; PARK10 (606852) has been mapped to chromosome 1p32; PARK16 (613164) has been mapped to chromosome 1q32. See also PARK21 (616361). A locus on the X chromosome has been identified (PARK12; 300557). There is also evidence that mitochondrial mutations may cause or contribute to Parkinson disease (see 556500). Susceptibility to the development of the more common late-onset form of Parkinson disease has been associated with polymorphisms or mutations in several genes, including GBA (606463), MAPT (157140), MC1R (155555), ADH1C (103730), and genes at the HLA locus (see, e.g., HLA-DRA, 142860). Each of these risk factors independently may have a modest effect on disease development, but together may have a substantial cumulative effect (Hamza et al., 2010). Susceptibility to PD may also be conferred by expanded trinucleotide repeats in several genes causing other neurologic disorders usually characterized by spinocerebellar ataxia (SCA), including the ATXN2 (601517), ATXN3 (607047), TBP (600075), and ATXN8OS (603680) genes. [from OMIM]

Term Hierarchy

Professional guidelines

PubMed

Osborne JA, Botkin R, Colon-Semenza C, DeAngelis TR, Gallardo OG, Kosakowski H, Martello J, Pradhan S, Rafferty M, Readinger JL, Whitt AL, Ellis TD
Phys Ther 2022 Apr 1;102(4) doi: 10.1093/ptj/pzab302. PMID: 34963139Free PMC Article
Armstrong MJ, Okun MS
JAMA 2020 Feb 11;323(6):548-560. doi: 10.1001/jama.2019.22360. PMID: 32044947
Arvanitakis Z, Shah RC, Bennett DA
JAMA 2019 Oct 22;322(16):1589-1599. doi: 10.1001/jama.2019.4782. PMID: 31638686Free PMC Article

Curated

UK NICE Clinical guideline (CG148), Urinary incontinence in neurological disease: assessment and management, 2023

Recent clinical studies

Etiology

Armstrong MJ, Okun MS
JAMA 2020 Feb 11;323(6):548-560. doi: 10.1001/jama.2019.22360. PMID: 32044947
Simon DK, Tanner CM, Brundin P
Clin Geriatr Med 2020 Feb;36(1):1-12. Epub 2019 Aug 24 doi: 10.1016/j.cger.2019.08.002. PMID: 31733690Free PMC Article
Hayes MT
Am J Med 2019 Jul;132(7):802-807. Epub 2019 Mar 16 doi: 10.1016/j.amjmed.2019.03.001. PMID: 30890425
Capriotti T, Terzakis K
Home Healthc Now 2016 Jun;34(6):300-7. doi: 10.1097/NHH.0000000000000398. PMID: 27243427
Beitz JM
Front Biosci (Schol Ed) 2014 Jan 1;6(1):65-74. doi: 10.2741/s415. PMID: 24389262

Diagnosis

Xiao B, Tan EK
Am J Med 2023 May;136(5):411-412. Epub 2023 Feb 3 doi: 10.1016/j.amjmed.2023.01.023. PMID: 36740207
Grayson M
Nature 2016 Oct 27;538(7626):S1. doi: 10.1038/538S1a. PMID: 27783582
Capriotti T, Terzakis K
Home Healthc Now 2016 Jun;34(6):300-7. doi: 10.1097/NHH.0000000000000398. PMID: 27243427
Barnett R
Lancet 2016 Jan 16;387(10015):217. Epub 2016 Jan 15 doi: 10.1016/S0140-6736(16)00049-0. PMID: 26842286
Grayson M
Nature 2010 Aug 26;466(7310):S1. doi: 10.1038/466S2a. PMID: 20739929

Therapy

Nat Biotechnol 2023 Sep;41(9):1183. doi: 10.1038/s41587-023-01965-8. PMID: 37699982
Chiu SY, Bowers D, Armstrong MJ
Neurotherapeutics 2022 Jan;19(1):55-67. Epub 2021 Dec 2 doi: 10.1007/s13311-021-01161-z. PMID: 34859379Free PMC Article
Barker RA; TRANSEURO consortium
Nat Med 2019 Jul;25(7):1045-1053. Epub 2019 Jul 1 doi: 10.1038/s41591-019-0507-2. PMID: 31263283
Sherrington C, Michaleff ZA, Fairhall N, Paul SS, Tiedemann A, Whitney J, Cumming RG, Herbert RD, Close JCT, Lord SR
Br J Sports Med 2017 Dec;51(24):1750-1758. Epub 2016 Oct 4 doi: 10.1136/bjsports-2016-096547. PMID: 27707740
Popeo D, Kellner CH
Med Hypotheses 2009 Oct;73(4):468-9. Epub 2009 Aug 5 doi: 10.1016/j.mehy.2009.06.053. PMID: 19660875

Prognosis

Ben-Shlomo Y, Darweesh S, Llibre-Guerra J, Marras C, San Luciano M, Tanner C
Lancet 2024 Jan 20;403(10423):283-292. doi: 10.1016/S0140-6736(23)01419-8. PMID: 38245248Free PMC Article
Balestrino R, Schapira AHV
Eur J Neurol 2020 Jan;27(1):27-42. Epub 2019 Nov 27 doi: 10.1111/ene.14108. PMID: 31631455
Dorsey ER, Sherer T, Okun MS, Bloem BR
J Parkinsons Dis 2018;8(s1):S3-S8. doi: 10.3233/JPD-181474. PMID: 30584159Free PMC Article
Elbaz A, Carcaillon L, Kab S, Moisan F
Rev Neurol (Paris) 2016 Jan;172(1):14-26. Epub 2015 Dec 21 doi: 10.1016/j.neurol.2015.09.012. PMID: 26718594
Dorsey ER, Constantinescu R, Thompson JP, Biglan KM, Holloway RG, Kieburtz K, Marshall FJ, Ravina BM, Schifitto G, Siderowf A, Tanner CM
Neurology 2007 Jan 30;68(5):384-6. Epub 2006 Nov 2 doi: 10.1212/01.wnl.0000247740.47667.03. PMID: 17082464

Clinical prediction guides

You J, Wang L, Wang Y, Kang J, Yu J, Cheng W, Feng J
Neurology 2024 Aug 13;103(3):e209531. Epub 2024 Jul 8 doi: 10.1212/WNL.0000000000209531. PMID: 38976826
Bowman GL
Neurology 2017 Oct 3;89(14):1432-1434. Epub 2017 Sep 6 doi: 10.1212/WNL.0000000000004383. PMID: 28878052
Mallik AK, Drzezga A, Minoshima S
PET Clin 2017 Jan;12(1):119-136. Epub 2016 Oct 5 doi: 10.1016/j.cpet.2016.08.003. PMID: 27863563
Palma JA, Kaufmann H
Parkinsonism Relat Disord 2014 Jan;20 Suppl 1(0 1):S94-8. doi: 10.1016/S1353-8020(13)70024-5. PMID: 24262198Free PMC Article
Tanner CM, Ben-Shlomo Y
Adv Neurol 1999;80:153-9. PMID: 10410715

Recent systematic reviews

Johansson H, Folkerts AK, Hammarström I, Kalbe E, Leavy B
J Neurol 2023 Jun;270(6):2890-2907. Epub 2023 Feb 23 doi: 10.1007/s00415-023-11610-8. PMID: 36820916Free PMC Article
Truijen S, Abdullahi A, Bijsterbosch D, van Zoest E, Conijn M, Wang Y, Struyf N, Saeys W
Neurol Sci 2022 May;43(5):2995-3006. Epub 2022 Feb 17 doi: 10.1007/s10072-021-05855-2. PMID: 35175439Free PMC Article
Zhao N, Yang Y, Zhang L, Zhang Q, Balbuena L, Ungvari GS, Zang YF, Xiang YT
CNS Neurosci Ther 2021 Mar;27(3):270-279. Epub 2020 Dec 28 doi: 10.1111/cns.13549. PMID: 33372386Free PMC Article
Kim Y, Lai B, Mehta T, Thirumalai M, Padalabalanarayanan S, Rimmer JH, Motl RW
Am J Phys Med Rehabil 2019 Jul;98(7):613-621. doi: 10.1097/PHM.0000000000001174. PMID: 30844920Free PMC Article
Thenganatt MA, Jankovic J
JAMA Neurol 2014 Apr;71(4):499-504. doi: 10.1001/jamaneurol.2013.6233. PMID: 24514863

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NICE, 2023
      UK NICE Clinical guideline (CG148), Urinary incontinence in neurological disease: assessment and management, 2023

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...