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Parkinson's disease(PD)

MedGen UID:
10590
Concept ID:
C0030567
Disease or Syndrome
Synonyms: PARKINSON DISEASE, AGE OF ONSET, MODIFIER; PARKINSON DISEASE, LATE-ONSET; Parkinson''s disease; PD
SNOMED CT: Idiopathic Parkinson's disease (49049000); Parkinson disease (49049000); PD - Parkinson's disease (49049000); Parkinsons disease (49049000); Parkinson's disease (49049000); Paralysis agitans (49049000); Idiopathic parkinsonism (49049000); Primary parkinsonism (49049000); Shaking palsy (49049000)
 
Genes: SNCAIP; TBP; NR4A2; MAPT; GBA; ADH1C
Cytogenetic locations: 17q21.31; 1q22; 2q24.1; 4q23; 5q23.2; 6q27
OMIM®: 168600

Definition

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]

Additional descriptions

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 gene loci implicated in autosomal dominant forms of Parkinson disease have been identified, including PARK1 (168601) and PARK4, due to mutation in or triplication of the alpha-synuclein gene (SNCA; 163890), respectively, on 4q22.1; PARK5 (191342), due to mutation in the UCHL1 gene on 4p14; PARK8 (607060), due to mutation in the LRRK2 gene (609007) on 12q12; PARK11 (607688), due to mutation in the GIGYF2 gene (612003) on 2q37; and PARK13 (610297), due to mutation in the HTRA2 gene (606441) on 2p12. PARK17 (614203) is caused by mutation in the VPS35 gene (601501) on chromosome 16q12, and PARK18 (614251) is caused by mutation in the EIF4G1 gene (600495) on chromosome 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. 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
From GHR
Parkinson 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 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 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. Parkinson disease can also affect emotions and thinking ability (cognition). Some affected individuals develop psychiatric conditions such as depression and visual hallucinations. People with Parkinson disease also have an increased risk of developing dementia, which is a decline in intellectual functions including judgment and memory. Generally, Parkinson 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 disease.  http://ghr.nlm.nih.gov/condition/parkinson-disease

Clinical features

Urinary urgency
MedGen UID:
39315
Concept ID:
C0085606
Finding
A sudden compelling urge to urinate.
Mask-like facies
MedGen UID:
140860
Concept ID:
C0424448
Finding
Depression
MedGen UID:
137999
Concept ID:
C0344315
Finding
Dysarthria
MedGen UID:
333395
Concept ID:
C1839743
Finding
Postural instability
MedGen UID:
334529
Concept ID:
C1843921
Finding
Substantia nigra gliosis
MedGen UID:
337668
Concept ID:
C1846865
Finding
Neuronal loss in central nervous system
MedGen UID:
342515
Concept ID:
C1850496
Finding
Dysphagia
MedGen UID:
342867
Concept ID:
C1853381
Finding
Hallucinations
MedGen UID:
776581
Concept ID:
C2364080
Finding
Resting tremor
MedGen UID:
776592
Concept ID:
C3166481
Finding
Short stepped shuffling gait
MedGen UID:
812045
Concept ID:
C3805715
Finding
Dementia
MedGen UID:
504574
Concept ID:
CN000683
Finding
A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.
Personality changes
MedGen UID:
504584
Concept ID:
CN000707
Finding
An abnormal shift in patterns of thinking, acting, or feeling.
Parkinsonism
MedGen UID:
504793
Concept ID:
CN001191
Finding
Characteristic neurologic anomaly resulting form degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait.
Dystonia
MedGen UID:
504804
Concept ID:
CN001220
Finding
An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.
Rigidity
MedGen UID:
505075
Concept ID:
CN001866
Finding
Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.
Bradykinesia
MedGen UID:
505077
Concept ID:
CN001869
Finding
Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement).
Sleep disturbance
MedGen UID:
505212
Concept ID:
CN002143
Finding
An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness.
Dysautonomia
MedGen UID:
505243
Concept ID:
CN002233
Finding
Dysfunction of the autonomic nervous system.
Lewy bodies
MedGen UID:
506465
Concept ID:
CN117211
Finding
Dysphagia
MedGen UID:
342867
Concept ID:
C1853381
Finding
Constipation
MedGen UID:
368096
Concept ID:
C1963087
Finding
Weak voice
MedGen UID:
425063
Concept ID:
CN001476
Finding
Reduced intensity (volume) of speech.

Term Hierarchy

Professional guidelines

PubMed

Albanese A, Asmus F, Bhatia KP, Elia AE, Elibol B, Filippini G, Gasser T, Krauss JK, Nardocci N, Newton A, Valls-Solé J
Eur J Neurol 2011 Jan;18(1):5-18. doi: 10.1111/j.1468-1331.2010.03042.x. PMID: 20482602

Recent clinical studies

Etiology

Huang HC, Tsai CH, Muo CH, Lin KH, Lu MK, Sung FC, Kao CH
J Clin Psychiatry 2015 Jan;76(1):e104-10. doi: 10.4088/JCP.13m08790. PMID: 25650675
Schrag A, Horsfall L, Walters K, Noyce A, Petersen I
Lancet Neurol 2015 Jan;14(1):57-64. Epub 2014 Nov 27 doi: 10.1016/S1474-4422(14)70287-X. [Epub ahead of print] PMID: 25435387
Nombela C, Rowe JB, Winder-Rhodes SE, Hampshire A, Owen AM, Breen DP, Duncan GW, Khoo TK, Yarnall AJ, Firbank MJ, Chinnery PF, Robbins TW, O'Brien JT, Brooks DJ, Burn DJ; ICICLE-PD study group, Barker RA
Brain 2014 Oct;137(Pt 10):2743-58. Epub 2014 Jul 30 doi: 10.1093/brain/awu201. [Epub ahead of print] PMID: 25080285Free PMC Article
Greene N, Lassen CF, Rugbjerg K, Ritz B
Eur J Neurol 2014 Sep;21(9):1168-77, e68. Epub 2014 Apr 22 doi: 10.1111/ene.12450. [Epub ahead of print] PMID: 24750445
Morley JF, Pawlowski SM, Kesari A, Maina I, Pantelyat A, Duda JE
Parkinsonism Relat Disord 2014 Jul;20(7):738-42. Epub 2014 Apr 1 doi: 10.1016/j.parkreldis.2014.03.024. [Epub ahead of print] PMID: 24742370

Diagnosis

Huang HC, Tsai CH, Muo CH, Lin KH, Lu MK, Sung FC, Kao CH
J Clin Psychiatry 2015 Jan;76(1):e104-10. doi: 10.4088/JCP.13m08790. PMID: 25650675
Schrag A, Horsfall L, Walters K, Noyce A, Petersen I
Lancet Neurol 2015 Jan;14(1):57-64. Epub 2014 Nov 27 doi: 10.1016/S1474-4422(14)70287-X. [Epub ahead of print] PMID: 25435387
Nombela C, Rowe JB, Winder-Rhodes SE, Hampshire A, Owen AM, Breen DP, Duncan GW, Khoo TK, Yarnall AJ, Firbank MJ, Chinnery PF, Robbins TW, O'Brien JT, Brooks DJ, Burn DJ; ICICLE-PD study group, Barker RA
Brain 2014 Oct;137(Pt 10):2743-58. Epub 2014 Jul 30 doi: 10.1093/brain/awu201. [Epub ahead of print] PMID: 25080285Free PMC Article
Hall H, Reyes S, Landeck N, Bye C, Leanza G, Double K, Thompson L, Halliday G, Kirik D
Brain 2014 Sep;137(Pt 9):2493-508. Epub 2014 Jul 24 doi: 10.1093/brain/awu193. [Epub ahead of print] PMID: 25062696
Morley JF, Pawlowski SM, Kesari A, Maina I, Pantelyat A, Duda JE
Parkinsonism Relat Disord 2014 Jul;20(7):738-42. Epub 2014 Apr 1 doi: 10.1016/j.parkreldis.2014.03.024. [Epub ahead of print] PMID: 24742370

Therapy

Huang HC, Tsai CH, Muo CH, Lin KH, Lu MK, Sung FC, Kao CH
J Clin Psychiatry 2015 Jan;76(1):e104-10. doi: 10.4088/JCP.13m08790. PMID: 25650675
Giugni JC, Okun MS
Curr Opin Neurol 2014 Aug;27(4):450-60. doi: 10.1097/WCO.0000000000000118. PMID: 24978634Free PMC Article
Zokaei N, McNeill A, Proukakis C, Beavan M, Jarman P, Korlipara P, Hughes D, Mehta A, Hu MT, Schapira AH, Husain M
Brain 2014 Aug;137(Pt 8):2303-11. Epub 2014 Jun 11 doi: 10.1093/brain/awu143. [Epub ahead of print] PMID: 24919969Free PMC Article
Greene N, Lassen CF, Rugbjerg K, Ritz B
Eur J Neurol 2014 Sep;21(9):1168-77, e68. Epub 2014 Apr 22 doi: 10.1111/ene.12450. [Epub ahead of print] PMID: 24750445
Morley JF, Pawlowski SM, Kesari A, Maina I, Pantelyat A, Duda JE
Parkinsonism Relat Disord 2014 Jul;20(7):738-42. Epub 2014 Apr 1 doi: 10.1016/j.parkreldis.2014.03.024. [Epub ahead of print] PMID: 24742370

Prognosis

Huang HC, Tsai CH, Muo CH, Lin KH, Lu MK, Sung FC, Kao CH
J Clin Psychiatry 2015 Jan;76(1):e104-10. doi: 10.4088/JCP.13m08790. PMID: 25650675
Goldman JG, Postuma R
Curr Opin Neurol 2014 Aug;27(4):434-41. doi: 10.1097/WCO.0000000000000112. PMID: 24978368Free PMC Article
Greene N, Lassen CF, Rugbjerg K, Ritz B
Eur J Neurol 2014 Sep;21(9):1168-77, e68. Epub 2014 Apr 22 doi: 10.1111/ene.12450. [Epub ahead of print] PMID: 24750445
Morley JF, Pawlowski SM, Kesari A, Maina I, Pantelyat A, Duda JE
Parkinsonism Relat Disord 2014 Jul;20(7):738-42. Epub 2014 Apr 1 doi: 10.1016/j.parkreldis.2014.03.024. [Epub ahead of print] PMID: 24742370
Duncan GW, Khoo TK, Coleman SY, Brayne C, Yarnall AJ, O'Brien JT, Barker RA, Burn DJ
Age Ageing 2014 Mar;43(2):257-63. Epub 2013 Jul 23 doi: 10.1093/ageing/aft091. [Epub ahead of print] PMID: 23880142

Clinical prediction guides

Huang HC, Tsai CH, Muo CH, Lin KH, Lu MK, Sung FC, Kao CH
J Clin Psychiatry 2015 Jan;76(1):e104-10. doi: 10.4088/JCP.13m08790. PMID: 25650675
Yang F, Trolle Lagerros Y, Bellocco R, Adami HO, Fang F, Pedersen NL, Wirdefeldt K
Brain 2015 Feb;138(Pt 2):269-75. Epub 2014 Nov 18 doi: 10.1093/brain/awu323. [Epub ahead of print] PMID: 25410713
Zokaei N, McNeill A, Proukakis C, Beavan M, Jarman P, Korlipara P, Hughes D, Mehta A, Hu MT, Schapira AH, Husain M
Brain 2014 Aug;137(Pt 8):2303-11. Epub 2014 Jun 11 doi: 10.1093/brain/awu143. [Epub ahead of print] PMID: 24919969Free PMC Article
Greene N, Lassen CF, Rugbjerg K, Ritz B
Eur J Neurol 2014 Sep;21(9):1168-77, e68. Epub 2014 Apr 22 doi: 10.1111/ene.12450. [Epub ahead of print] PMID: 24750445
Morley JF, Pawlowski SM, Kesari A, Maina I, Pantelyat A, Duda JE
Parkinsonism Relat Disord 2014 Jul;20(7):738-42. Epub 2014 Apr 1 doi: 10.1016/j.parkreldis.2014.03.024. [Epub ahead of print] PMID: 24742370

Recent systematic reviews

Nalls MA, Pankratz N, Lill CM, Do CB, Hernandez DG, Saad M, DeStefano AL, Kara E, Bras J, Sharma M, Schulte C, Keller MF, Arepalli S, Letson C, Edsall C, Stefansson H, Liu X, Pliner H, Lee JH, Cheng R; International Parkinson's Disease Genomics Consortium (IPDGC); Parkinson's Study Group (PSG) Parkinson's Research: The Organized GENetics Initiative (PROGENI); 23andMe; GenePD; NeuroGenetics Research Consortium (NGRC); Hussman Institute of Human Genomics (HIHG); Ashkenazi Jewish Dataset Investigator; Cohorts for Health and Aging Research in Genetic Epidemiology (CHARGE); North American Brain Expression Consortium (NABEC); United Kingdom Brain Expression Consortium (UKBEC); Greek Parkinson's Disease Consortium; Alzheimer Genetic Analysis Group, Ikram MA, Ioannidis JP, Hadjigeorgiou GM, Bis JC, Martinez M, Perlmutter JS, Goate A, Marder K, Fiske B, Sutherland M, Xiromerisiou G, Myers RH, Clark LN, Stefansson K, Hardy JA, Heutink P, Chen H, Wood NW, Houlden H, Payami H, Brice A, Scott WK, Gasser T, Bertram L, Eriksson N, Foroud T, Singleton AB
Nat Genet 2014 Sep;46(9):989-93. Epub 2014 Jul 27 doi: 10.1038/ng.3043. [Epub ahead of print] PMID: 25064009Free PMC Article
Zhang D, Jiang H, Xie J
Mov Disord 2014 May;29(6):819-22. Epub 2014 Mar 3 doi: 10.1002/mds.25863. [Epub ahead of print] PMID: 24590499
Tanner CM, Meng CC, Ravina B, Lang A, Kurlan R, Marek K, Oakes D, Seibyl J, Flagg E, Gauger L, Guest DD, Goetz CG, Kieburtz K, DiEuliis D, Fahn S, Elliott RA, Shoulson I
Mov Disord 2014 May;29(6):743-9. Epub 2014 Feb 11 doi: 10.1002/mds.25814. [Epub ahead of print] PMID: 24515275
Stuart S, Alcock L, Galna B, Lord S, Rochester L
J Neurosci Methods 2014 Jan 30;222:175-88. Epub 2013 Nov 27 doi: 10.1016/j.jneumeth.2013.11.018. [Epub ahead of print] PMID: 24291711
Zhai D, Li S, Zhao Y, Lin Z
Neurosci Lett 2014 Apr 3;564:99-104. Epub 2013 Nov 7 doi: 10.1016/j.neulet.2013.10.060. [Epub ahead of print] PMID: 24211691

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