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Parkinson disease 17(PARK17)

MedGen UID:
481763
Concept ID:
C3280133
Disease or Syndrome
Synonyms: PARK17
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
Gene (location): VPS35 (16q11.2)
OMIM®: 614203

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-17 is an autosomal dominant, adult-onset form of the disorder. It is phenotypically similar to idiopathic Parkinson disease (summary by Wider et al., 2008). For a general phenotypic description and a discussion of genetic heterogeneity of Parkinson disease (PD), see 168600.  http://www.omim.org/entry/614203
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.  https://ghr.nlm.nih.gov/condition/parkinson-disease

Clinical features

Dyskinesia
MedGen UID:
8514
Concept ID:
C0013384
Disease or Syndrome
A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements.
Rigidity
MedGen UID:
7752
Concept ID:
C0026837
Sign or Symptom
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.
Akinesia
MedGen UID:
43218
Concept ID:
C0085623
Disease or Syndrome
Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily.
Bradykinesia
MedGen UID:
115925
Concept ID:
C0233565
Sign or Symptom
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).
Resting tremor
MedGen UID:
66697
Concept ID:
C0234379
Finding
A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse.
Parkinsonism
MedGen UID:
66079
Concept ID:
C0242422
Disease or Syndrome
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.
Postural instability
MedGen UID:
334529
Concept ID:
C1843921
Finding

Recent clinical studies

Etiology

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. PMID: 26493264Free PMC Article
Schroeder JE, Hughes A, Sama A, Weinstein J, Kaplan L, Cammisa FP, Girardi FP
J Bone Joint Surg Am 2015 Oct 21;97(20):1661-6. doi: 10.2106/JBJS.N.01049. PMID: 26491130
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. PMID: 26239690
Kim SW, Chung SJ, Oh YS, Yoon JH, Sunwoo MK, Hong JY, Kim JS, Lee PH
AJNR Am J Neuroradiol 2015 Sep;36(9):1642-7. Epub 2015 Jul 30 doi: 10.3174/ajnr.A4337. PMID: 26228888
Canning CG, Sherrington C, Lord SR, Close JC, Heritier S, Heller GZ, Howard K, Allen NE, Latt MD, Murray SM, O'Rourke SD, Paul SS, Song J, Fung VS
Neurology 2015 Jan 20;84(3):304-12. Epub 2014 Dec 31 doi: 10.1212/WNL.0000000000001155. PMID: 25552576Free PMC Article

Diagnosis

Lin WC, Chen PC, Huang YC, Tsai NW, Chen HL, Wang HC, Lin TK, Chou KH, Chen MH, Chen YW, Lu CH
Medicine (Baltimore) 2016 Feb;95(5):e2206. doi: 10.1097/MD.0000000000002206. PMID: 26844450Free 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. PMID: 26493264Free PMC Article
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. PMID: 26239690
Murakami Y, Kakeda S, Watanabe K, Ueda I, Ogasawara A, Moriya J, Ide S, Futatsuya K, Sato T, Okada K, Uozumi T, Tsuji S, Liu T, Wang Y, Korogi Y
AJNR Am J Neuroradiol 2015 Jun;36(6):1102-8. Epub 2015 Mar 12 doi: 10.3174/ajnr.A4260. PMID: 25767187
Sixel-Döring F, Trautmann E, Mollenhauer B, Trenkwalder C
Sleep 2014 Mar 1;37(3):431-8. doi: 10.5665/sleep.3468. PMID: 24587564Free PMC Article

Therapy

Lin WC, Chen PC, Huang YC, Tsai NW, Chen HL, Wang HC, Lin TK, Chou KH, Chen MH, Chen YW, Lu CH
Medicine (Baltimore) 2016 Feb;95(5):e2206. doi: 10.1097/MD.0000000000002206. PMID: 26844450Free 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. PMID: 26493264Free PMC Article
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. PMID: 26239690
Cruickshank TM, Reyes AR, Ziman MR
Medicine (Baltimore) 2015 Jan;94(4):e411. doi: 10.1097/MD.0000000000000411. PMID: 25634170Free PMC Article
Canning CG, Sherrington C, Lord SR, Close JC, Heritier S, Heller GZ, Howard K, Allen NE, Latt MD, Murray SM, O'Rourke SD, Paul SS, Song J, Fung VS
Neurology 2015 Jan 20;84(3):304-12. Epub 2014 Dec 31 doi: 10.1212/WNL.0000000000001155. PMID: 25552576Free PMC Article

Prognosis

Merola A, Romagnolo A, Rizzi L, Rizzone MG, Zibetti M, Lanotte M, Mandybur G, Duker AP, Espay AJ, Lopiano L
J Neurol 2017 Jan;264(1):40-48. Epub 2016 Oct 19 doi: 10.1007/s00415-016-8314-x. PMID: 27761641
Avila A, Cardona X, Martin-Baranera M, Leon L, Caballol N, Millet P, Bello J
J Clin Psychopharmacol 2015 Dec;35(6):719-23. doi: 10.1097/JCP.0000000000000404. PMID: 26444951
Lucero C, Campbell MC, Flores H, Maiti B, Perlmutter JS, Foster ER
Parkinsonism Relat Disord 2015 Aug;21(8):899-904. Epub 2015 May 27 doi: 10.1016/j.parkreldis.2015.05.020. PMID: 26037458Free PMC Article
Ugen KE, Lin X, Bai G, Liang Z, Cai J, Li K, Song S, Cao C, Sanchez-Ramos J
Hum Vaccin Immunother 2015;11(4):922-30. doi: 10.1080/21645515.2015.1012033. PMID: 25714663Free PMC Article
Nielsen M, Hansen J, Ritz B, Nordahl H, Schernhammer E, Wermuth L, Rod NH
Epidemiology 2014 Mar;25(2):225-32. doi: 10.1097/EDE.0000000000000042. PMID: 24378369

Clinical prediction guides

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. PMID: 26493264Free PMC Article
Schroeder JE, Hughes A, Sama A, Weinstein J, Kaplan L, Cammisa FP, Girardi FP
J Bone Joint Surg Am 2015 Oct 21;97(20):1661-6. doi: 10.2106/JBJS.N.01049. PMID: 26491130
Kim SW, Chung SJ, Oh YS, Yoon JH, Sunwoo MK, Hong JY, Kim JS, Lee PH
AJNR Am J Neuroradiol 2015 Sep;36(9):1642-7. Epub 2015 Jul 30 doi: 10.3174/ajnr.A4337. PMID: 26228888
Hasegawa H, Samuel M, Douiri A, Ashkan K
World Neurosurg 2014 Dec;82(6):1295-1299.e2. Epub 2014 Feb 8 doi: 10.1016/j.wneu.2014.02.001. PMID: 24518887
Emre M, Poewe W, De Deyn PP, Barone P, Kulisevsky J, Pourcher E, van Laar T, Storch A, Micheli F, Burn D, Durif F, Pahwa R, Callegari F, Tenenbaum N, Strohmaier C
Clin Neuropharmacol 2014 Jan-Feb;37(1):9-16. doi: 10.1097/WNF.0000000000000010. PMID: 24434526

Recent systematic reviews

Yue X, Li H, Yan H, Zhang P, Chang L, Li T
Medicine (Baltimore) 2016 May;95(18):e3549. doi: 10.1097/MD.0000000000003549. PMID: 27149468Free PMC Article
Leung IH, Walton CC, Hallock H, Lewis SJ, Valenzuela M, Lampit A
Neurology 2015 Nov 24;85(21):1843-51. Epub 2015 Oct 30 doi: 10.1212/WNL.0000000000002145. PMID: 26519540Free PMC Article
Gan-Or Z, Leblond CS, Mallett V, Orr-Urtreger A, Dion PA, Rouleau GA
Parkinsonism Relat Disord 2015 Jul;21(7):778-82. Epub 2015 May 5 doi: 10.1016/j.parkreldis.2015.05.002. PMID: 25962553
Cruickshank TM, Reyes AR, Ziman MR
Medicine (Baltimore) 2015 Jan;94(4):e411. doi: 10.1097/MD.0000000000000411. PMID: 25634170Free 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. PMID: 23987116

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