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Parkinson disease(PD)

MedGen UID:
10590
Concept ID:
C0030567
Disease or Syndrome
Synonyms: 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); Idiopathic parkinsonism (49049000); Primary parkinsonism (49049000); Shaking palsy (49049000)
 
OMIM®: 168600; 516000

Disease characteristics

Excerpted from the GeneReview: Parkinson Disease Overview
Parkinsonism refers to all clinical states characterized by tremor, muscle rigidity, slowed movement (bradykinesia) and often postural instability. Parkinson disease is the primary and most common form of parkinsonism. Psychiatric manifestations, which include depression and visual hallucinations, are common but not uniformly present. Dementia eventually occurs in at least 20% of cases. The most common sporadic form of Parkinson disease manifests around age 60; however, young-onset and even juvenile presentations are seen. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Definition  |  Causes  |  Evaluation Strategy  |  Genetic Counseling  |  Resources  |  Management  |  References  |  Chapter Notes
Authors:
Janice Farlow  |  Nathan D Pankratz  |  Joanne Wojcieszek, et. al.   view full author information

Additional description

From OMIM
Parkinson disease 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 4q22.1; PARK5 (191342), caused by mutation in the UCHL1 gene on 4p14; PARK8 (607060), caused by mutation in the LRRK2 gene (609007) on 12q12; PARK11 (607688), caused by mutation in the GIGYF2 gene (612003) on 2q37; and PARK13 (610297), caused by mutation in the HTRA2 gene (606441) on 2p12; PARK17 (614203), caused by mutation in the VPS35 gene (601501) on 16q12; and PARK18 (614251), caused by mutation in the EIF4G1 gene (600495) on 3q27. Several loci for autosomal recessive early-onset Parkinson disease have been identified: PARK2 (600116), caused by mutation in the gene encoding parkin (PARK2; 602544) on 6q25.2-q27; 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-q13; PARK19 (615528), caused by mutation in the DNAJC6 gene (608375) on 1p32; and PARK20 (615530), caused by mutation in the SYNJ1 gene (604297) on 21q22. PARK3 (602404) has been mapped to chromosome 2p13; PARK10 (606852) has been mapped to chromosome 1p34-p32; 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.  http://www.omim.org/entry/168600

Term Hierarchy

Recent clinical studies

Etiology

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Diagnosis

Tremblay C, Monetta L, Langlois M, Schneider C
Arch Phys Med Rehabil 2016 Jan;97(1):74-83. Epub 2015 Sep 25 doi: 10.1016/j.apmr.2015.09.002. [Epub ahead of print] PMID: 26407481
Mazuel L, Chassain C, Jean B, Pereira B, Cladière A, Speziale C, Durif F
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Therapy

Mazuel L, Chassain C, Jean B, Pereira B, Cladière A, Speziale C, Durif F
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Ballard C, Isaacson S, Mills R, Williams H, Corbett A, Coate B, Pahwa R, Rascol O, Burn DJ
J Am Med Dir Assoc 2015 Oct 1;16(10):898.e1-7. Epub 2015 Aug 1 doi: 10.1016/j.jamda.2015.06.021. [Epub ahead of print] PMID: 26239690
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Prognosis

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Johnson KE
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Joutsa J, Johansson J, Seppänen M, Noponen T, Kaasinen V
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Clinical prediction guides

Wu G, Shen YJ, Huang MH, Xing Z, Liu Y, Chen J
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Medicine (Baltimore) 2015 Nov;94(46):e2097. doi: 10.1097/MD.0000000000002097. PMID: 26579824Free PMC Article
Connolly JG, Bykov K, Gagne JJ
Am J Epidemiol 2015 Dec 1;182(11):936-44. Epub 2015 Oct 22 doi: 10.1093/aje/kwv109. [Epub ahead of print] PMID: 26493264Free PMC Article
Schroeder JE, Hughes A, Sama A, Weinstein J, Kaplan L, Cammisa FP, Girardi FP
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AJNR Am J Neuroradiol 2015 Sep;36(9):1642-7. Epub 2015 Jul 30 doi: 10.3174/ajnr.A4337. [Epub ahead of print] PMID: 26228888

Recent systematic reviews

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