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Parkinson disease 16(PARK16)

MedGen UID:
442620
Concept ID:
C2751012
Disease or Syndrome
Synonym: PARK16
 
Monarch Initiative: MONDO:0013167
OMIM®: 613164

Definition

Parkinson's disease is a progressive disorder of the nervous system. The disorder affects several regions of the brain, especially an area called the substantia nigra that controls balance and movement.

Often the first symptom of Parkinson's disease is trembling or shaking (tremor) of a limb, especially when the body is at rest. Typically, the tremor begins on one side of the body, usually in one hand. Tremors can also affect the arms, legs, feet, and face. Other characteristic symptoms of Parkinson's disease include rigidity or stiffness of the limbs and torso, slow movement (bradykinesia) or an inability to move (akinesia), and impaired balance and coordination (postural instability). These symptoms worsen slowly over time.

Generally, Parkinson's disease that begins after age 50 is called late-onset disease. The condition is described as early-onset disease if signs and symptoms begin before age 50. Early-onset cases that begin before age 20 are sometimes referred to as juvenile-onset Parkinson's disease.

Parkinson's disease can also affect emotions and thinking ability (cognition). Some affected individuals develop psychiatric conditions such as depression and visual hallucinations. People with Parkinson's disease also have an increased risk of developing dementia, which is a decline in intellectual functions including judgment and memory. [from MedlinePlus Genetics]

Recent clinical studies

Etiology

Laurell GL, Plavén-Sigray P, Jucaite A, Varrone A, Cosgrove KP, Svarer C, Knudsen GM; Karolinska Schizophrenia Project Consortium, Ogden RT, Zanderigo F, Cervenka S, Hillmer AT, Schain M
J Nucl Med 2021 Mar;62(3):412-417. Epub 2020 Jul 17 doi: 10.2967/jnumed.120.243717. PMID: 32680926Free PMC Article
Gao T, Zheng R, Ruan Y, Fang Y, Jin C, Cao J, Song Z, Tian J, Pu J, Zhang B
Neurosci Lett 2020 Sep 14;735:135261. Epub 2020 Jul 16 doi: 10.1016/j.neulet.2020.135261. PMID: 32682840
Deng X, Xiao B, Allen JC, Ng E, Foo JN, Lo YL, Tan LCS, Tan EK
J Med Genet 2019 Nov;56(11):765-768. Epub 2019 Feb 27 doi: 10.1136/jmedgenet-2018-105661. PMID: 30814270Free PMC Article
Miyake Y, Tanaka K, Fukushima W, Kiyohara C, Sasaki S, Tsuboi Y, Oeda T, Shimada H, Kawamura N, Sakae N, Fukuyama H, Hirota Y, Nagai M, Nakamura Y; Fukuoka Kinki Parkinson's Disease Study Group
J Neurol Sci 2016 Mar 15;362:47-52. Epub 2016 Jan 14 doi: 10.1016/j.jns.2016.01.021. PMID: 26944116
Peeraully T, Tan EK
Parkinsonism Relat Disord 2012 Jan;18 Suppl 1:S63-5. doi: 10.1016/S1353-8020(11)70021-9. PMID: 22166457

Diagnosis

Gao T, Zheng R, Ruan Y, Fang Y, Jin C, Cao J, Song Z, Tian J, Pu J, Zhang B
Neurosci Lett 2020 Sep 14;735:135261. Epub 2020 Jul 16 doi: 10.1016/j.neulet.2020.135261. PMID: 32682840
Deng X, Xiao B, Allen JC, Ng E, Foo JN, Lo YL, Tan LCS, Tan EK
J Med Genet 2019 Nov;56(11):765-768. Epub 2019 Feb 27 doi: 10.1136/jmedgenet-2018-105661. PMID: 30814270Free PMC Article
Du G, Lewis MM, Kanekar S, Sterling NW, He L, Kong L, Li R, Huang X
AJNR Am J Neuroradiol 2017 May;38(5):966-972. Epub 2017 Mar 31 doi: 10.3174/ajnr.A5136. PMID: 28364007Free PMC Article
Zhou LL, Zhang X, Bao QQ, Liu RP, Gong MY, Mao GY, Zou M, Zhu JH
J Clin Neurosci 2014 Jun;21(6):1029-32. Epub 2013 Nov 14 doi: 10.1016/j.jocn.2013.09.015. PMID: 24373818
Peeraully T, Tan EK
Parkinsonism Relat Disord 2012 Jan;18 Suppl 1:S63-5. doi: 10.1016/S1353-8020(11)70021-9. PMID: 22166457

Therapy

Zhu H, Tonelli F, Turk M, Prescott A, Alessi DR, Sun J
Science 2023 Dec 22;382(6677):1404-1411. Epub 2023 Dec 21 doi: 10.1126/science.adi9926. PMID: 38127736Free PMC Article
Cibulka M, Brodnanova M, Grendar M, Grofik M, Kurca E, Pilchova I, Osina O, Tatarkova Z, Dobrota D, Kolisek M
Int J Mol Sci 2019 Sep 21;20(19) doi: 10.3390/ijms20194688. PMID: 31546642Free PMC Article

Prognosis

Xiao B, Deng X, Ng EY, Lo YL, Xu Z, Tay KY, Au WL, Ng A, Tan LCS, Tan EK
Eur J Neurol 2023 Sep;30(9):2874-2878. Epub 2023 Jun 15 doi: 10.1111/ene.15893. PMID: 37227164

Clinical prediction guides

Xiao B, Deng X, Ng EY, Lo YL, Xu Z, Tay KY, Au WL, Ng A, Tan LCS, Tan EK
Eur J Neurol 2023 Sep;30(9):2874-2878. Epub 2023 Jun 15 doi: 10.1111/ene.15893. PMID: 37227164
Gu LY, Dai SB, Zhou C, Gao T, Wu JJ, Fang Y, Guan XJ, Guo T, Zheng R, Jin C, Xu XJ, Song Z, Tian J, Yin X, Zhang MM, Zhang BR, Yan Y, Pu J
Brain Struct Funct 2021 Nov;226(8):2665-2673. Epub 2021 Aug 9 doi: 10.1007/s00429-021-02359-9. PMID: 34373950
Deng X, Xiao B, Allen JC, Ng E, Foo JN, Lo YL, Tan LCS, Tan EK
J Med Genet 2019 Nov;56(11):765-768. Epub 2019 Feb 27 doi: 10.1136/jmedgenet-2018-105661. PMID: 30814270Free PMC Article
Tykalova T, Rusz J, Klempir J, Cmejla R, Ruzicka E
Brain Lang 2017 Feb;165:1-9. Epub 2016 Nov 25 doi: 10.1016/j.bandl.2016.11.005. PMID: 27894006
Zhou LL, Zhang X, Bao QQ, Liu RP, Gong MY, Mao GY, Zou M, Zhu JH
J Clin Neurosci 2014 Jun;21(6):1029-32. Epub 2013 Nov 14 doi: 10.1016/j.jocn.2013.09.015. PMID: 24373818

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