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Parkinson disease 1(PARK1)

MedGen UID:
357008
Concept ID:
C1868595
Disease or Syndrome
Synonyms: PARK1; PARKINSON DISEASE 1, AUTOSOMAL DOMINANT
 
Gene: SNCA
Cytogenetic location: 4q22.1
OMIM: 168601

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 descriptions

From OMIM
Parkinson disease is the second most common neurogenic disorder after Alzheimer disease (AD; 104300), affecting approximately 1% of the population over age 50. Clinical manifestations include resting tremor, muscular rigidity, bradykinesia, and postural instability. Additional features are characteristic postural abnormalities, dysautonomia, dystonic cramps, and dementia (Polymeropoulos et al., 1996). For a general phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see 168600.  http://www.omim.org/entry/168601
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

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.

Recent clinical studies

Etiology

Harris-Hayes M, Willis AW, Klein SE, Czuppon S, Crowner B, Racette BA
J Bone Joint Surg Am 2014 Feb 19;96(4):e27. doi: 10.2106/JBJS.L.01317. PMID: 24553896Free PMC Article
Chung SD, Ho JD, Hu CC, Lin HC, Sheu JJ
Am J Ophthalmol 2014 Feb;157(2):464-469.e1. Epub 2013 Sep 29 doi: 10.1016/j.ajo.2013.09.026. [Epub ahead of print] PMID: 24315292
Chou KL, Taylor JL, Patil PG
Parkinsonism Relat Disord 2013 Nov;19(11):966-9. Epub 2013 Jul 10 doi: 10.1016/j.parkreldis.2013.06.010. [Epub ahead of print] PMID: 23849499Free PMC Article
Perfeito R, Cunha-Oliveira T, Rego AC
Free Radic Biol Med 2013 Sep;62:186-201. Epub 2013 Jun 3 doi: 10.1016/j.freeradbiomed.2013.05.042. [Epub ahead of print] PMID: 23743292
Zhang J, Mattison HA, Liu C, Ginghina C, Auinger P, McDermott MP, Stewart T, Kang UJ; Parkinson Study Group DATATOP Investigators, Cain KC, Shi M
Acta Neuropathol 2013 Nov;126(5):671-82. Epub 2013 May 4 doi: 10.1007/s00401-013-1121-x. [Epub ahead of print] PMID: 23644819Free PMC Article

Diagnosis

Parashos SA, Luo S, Biglan KM, Bodis-Wollner I, He B, Liang GS, Ross GW, Tilley BC, Shulman LM; NET-PD Investigators
JAMA Neurol 2014 Jun;71(6):710-6. doi: 10.1001/jamaneurol.2014.391. PMID: 24711047
Harris-Hayes M, Willis AW, Klein SE, Czuppon S, Crowner B, Racette BA
J Bone Joint Surg Am 2014 Feb 19;96(4):e27. doi: 10.2106/JBJS.L.01317. PMID: 24553896Free PMC Article
Chung SD, Ho JD, Hu CC, Lin HC, Sheu JJ
Am J Ophthalmol 2014 Feb;157(2):464-469.e1. Epub 2013 Sep 29 doi: 10.1016/j.ajo.2013.09.026. [Epub ahead of print] PMID: 24315292
Chou KL, Taylor JL, Patil PG
Parkinsonism Relat Disord 2013 Nov;19(11):966-9. Epub 2013 Jul 10 doi: 10.1016/j.parkreldis.2013.06.010. [Epub ahead of print] PMID: 23849499Free PMC Article
Hall TO, Wan JY, Mata IF, Kerr KF, Snapinn KW, Samii A, Roberts JW, Agarwal P, Zabetian CP, Edwards KL
Genet Med 2013 May;15(5):361-7. Epub 2012 Dec 6 doi: 10.1038/gim.2012.109. [Epub ahead of print] PMID: 23222663Free PMC Article

Therapy

Parashos SA, Luo S, Biglan KM, Bodis-Wollner I, He B, Liang GS, Ross GW, Tilley BC, Shulman LM; NET-PD Investigators
JAMA Neurol 2014 Jun;71(6):710-6. doi: 10.1001/jamaneurol.2014.391. PMID: 24711047
Parkinson Study Group SURE-PD Investigators, Schwarzschild MA, Ascherio A, Beal MF, Cudkowicz ME, Curhan GC, Hare JM, Hooper DC, Kieburtz KD, Macklin EA, Oakes D, Rudolph A, Shoulson I, Tennis MK, Espay AJ, Gartner M, Hung A, Bwala G, Lenehan R, Encarnacion E, Ainslie M, Castillo R, Togasaki D, Barles G, Friedman JH, Niles L, Carter JH, Murray M, Goetz CG, Jaglin J, Ahmed A, Russell DS, Cotto C, Goudreau JL, Russell D, Parashos SA, Ede P, Saint-Hilaire MH, Thomas CA, James R, Stacy MA, Johnson J, Gauger L, Antonelle de Marcaida J, Thurlow S, Isaacson SH, Carvajal L, Rao J, Cook M, Hope-Porche C, McClurg L, Grasso DL, Logan R, Orme C, Ross T, Brocht AF, Constantinescu R, Sharma S, Venuto C, Weber J, Eaton K
JAMA Neurol 2014 Feb;71(2):141-50. doi: 10.1001/jamaneurol.2013.5528. PMID: 24366103Free PMC Article
Chung SD, Ho JD, Hu CC, Lin HC, Sheu JJ
Am J Ophthalmol 2014 Feb;157(2):464-469.e1. Epub 2013 Sep 29 doi: 10.1016/j.ajo.2013.09.026. [Epub ahead of print] PMID: 24315292
Kefalopoulou Z, Politis M, Piccini P, Mencacci N, Bhatia K, Jahanshahi M, Widner H, Rehncrona S, Brundin P, Björklund A, Lindvall O, Limousin P, Quinn N, Foltynie T
JAMA Neurol 2014 Jan;71(1):83-7. doi: 10.1001/jamaneurol.2013.4749. PMID: 24217017
Zhang J, Mattison HA, Liu C, Ginghina C, Auinger P, McDermott MP, Stewart T, Kang UJ; Parkinson Study Group DATATOP Investigators, Cain KC, Shi M
Acta Neuropathol 2013 Nov;126(5):671-82. Epub 2013 May 4 doi: 10.1007/s00401-013-1121-x. [Epub ahead of print] PMID: 23644819Free PMC Article

Prognosis

Parkinson Study Group SURE-PD Investigators, Schwarzschild MA, Ascherio A, Beal MF, Cudkowicz ME, Curhan GC, Hare JM, Hooper DC, Kieburtz KD, Macklin EA, Oakes D, Rudolph A, Shoulson I, Tennis MK, Espay AJ, Gartner M, Hung A, Bwala G, Lenehan R, Encarnacion E, Ainslie M, Castillo R, Togasaki D, Barles G, Friedman JH, Niles L, Carter JH, Murray M, Goetz CG, Jaglin J, Ahmed A, Russell DS, Cotto C, Goudreau JL, Russell D, Parashos SA, Ede P, Saint-Hilaire MH, Thomas CA, James R, Stacy MA, Johnson J, Gauger L, Antonelle de Marcaida J, Thurlow S, Isaacson SH, Carvajal L, Rao J, Cook M, Hope-Porche C, McClurg L, Grasso DL, Logan R, Orme C, Ross T, Brocht AF, Constantinescu R, Sharma S, Venuto C, Weber J, Eaton K
JAMA Neurol 2014 Feb;71(2):141-50. doi: 10.1001/jamaneurol.2013.5528. PMID: 24366103Free PMC Article
Chung SD, Ho JD, Hu CC, Lin HC, Sheu JJ
Am J Ophthalmol 2014 Feb;157(2):464-469.e1. Epub 2013 Sep 29 doi: 10.1016/j.ajo.2013.09.026. [Epub ahead of print] PMID: 24315292
Kefalopoulou Z, Politis M, Piccini P, Mencacci N, Bhatia K, Jahanshahi M, Widner H, Rehncrona S, Brundin P, Björklund A, Lindvall O, Limousin P, Quinn N, Foltynie T
JAMA Neurol 2014 Jan;71(1):83-7. doi: 10.1001/jamaneurol.2013.4749. PMID: 24217017
Chung S, Bohnen NI, Albin RL, Frey KA, Müller ML, Chervin RD
J Clin Sleep Med 2013 Nov 15;9(11):1131-7. doi: 10.5664/jcsm.3150. PMID: 24235893Free PMC Article
Chou KL, Taylor JL, Patil PG
Parkinsonism Relat Disord 2013 Nov;19(11):966-9. Epub 2013 Jul 10 doi: 10.1016/j.parkreldis.2013.06.010. [Epub ahead of print] PMID: 23849499Free PMC Article

Clinical prediction guides

Harris-Hayes M, Willis AW, Klein SE, Czuppon S, Crowner B, Racette BA
J Bone Joint Surg Am 2014 Feb 19;96(4):e27. doi: 10.2106/JBJS.L.01317. PMID: 24553896Free PMC Article
Chung S, Bohnen NI, Albin RL, Frey KA, Müller ML, Chervin RD
J Clin Sleep Med 2013 Nov 15;9(11):1131-7. doi: 10.5664/jcsm.3150. PMID: 24235893Free PMC Article
Chou KL, Taylor JL, Patil PG
Parkinsonism Relat Disord 2013 Nov;19(11):966-9. Epub 2013 Jul 10 doi: 10.1016/j.parkreldis.2013.06.010. [Epub ahead of print] PMID: 23849499Free PMC Article
Ghosh A, Saminathan H, Kanthasamy A, Anantharam V, Jin H, Sondarva G, Harischandra DS, Qian Z, Rana A, Kanthasamy AG
J Biol Chem 2013 Jul 26;288(30):21955-71. Epub 2013 Jun 10 doi: 10.1074/jbc.M112.444224. [Epub ahead of print] PMID: 23754278Free PMC Article
Zhang J, Mattison HA, Liu C, Ginghina C, Auinger P, McDermott MP, Stewart T, Kang UJ; Parkinson Study Group DATATOP Investigators, Cain KC, Shi M
Acta Neuropathol 2013 Nov;126(5):671-82. Epub 2013 May 4 doi: 10.1007/s00401-013-1121-x. [Epub ahead of print] PMID: 23644819Free PMC Article

Recent systematic reviews

Mestre TA, Shah P, Marras C, Tomlinson G, Lang AE
Neurology 2014 Apr 22;82(16):1402-9. Epub 2014 Mar 21 doi: 10.1212/WNL.0000000000000340. [Epub ahead of print] PMID: 24658930Free PMC Article
Liu X, Ma T, Qu B, Ji Y, Liu Z
Genet Test Mol Biomarkers 2013 Nov;17(11):826-32. Epub 2013 Aug 29 doi: 10.1089/gtmb.2013.0313. [Epub ahead of print] PMID: 23987116
Noyce AJ, Bestwick JP, Silveira-Moriyama L, Hawkes CH, Giovannoni G, Lees AJ, Schrag A
Ann Neurol 2012 Dec;72(6):893-901. Epub 2012 Oct 15 doi: 10.1002/ana.23687. [Epub ahead of print] PMID: 23071076Free PMC Article
Allen M, Zou F, Chai HS, Younkin CS, Miles R, Nair AA, Crook JE, Pankratz VS, Carrasquillo MM, Rowley CN, Nguyen T, Ma L, Malphrus KG, Bisceglio G, Ortolaza AI, Palusak R, Middha S, Maharjan S, Georgescu C, Schultz D, Rakhshan F, Kolbert CP, Jen J, Sando SB, Aasly JO, Barcikowska M, Uitti RJ, Wszolek ZK, Ross OA, Petersen RC, Graff-Radford NR, Dickson DW, Younkin SG, Ertekin-Taner N
Mol Neurodegener 2012 Apr 11;7:13. doi: 10.1186/1750-1326-7-13. [Epub ahead of print] PMID: 22494505Free PMC Article
van der Mark M, Brouwer M, Kromhout H, Nijssen P, Huss A, Vermeulen R
Environ Health Perspect 2012 Mar;120(3):340-7. doi: 10.1289/ehp.1103881. PMID: 22389202Free PMC Article

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