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Parkinson disease 11, autosomal dominant, susceptibility to(PARK11)

MedGen UID:
896658
Concept ID:
C4083045
Finding
Synonym: Parkinson disease 11
 
Gene (location): GIGYF2 (2q37.1)
 
Monarch Initiative: MONDO:0011896
OMIM®: 607688

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.

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.

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. [from MedlinePlus Genetics]

Clinical features

From HPO
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
Sign or Symptom
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.
Postural instability
MedGen UID:
334529
Concept ID:
C1843921
Finding
A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps.
Parkinsonism with favorable response to dopaminergic medication
MedGen UID:
375989
Concept ID:
C1846868
Disease or Syndrome
Parkinsonism is a clinical syndrome that is a feature of a number of different diseases, including Parkinson disease itself, other neurodegenerative diseases such as progressive supranuclear palsy, and as a side-effect of some neuroleptic medications. Some but not all individuals with Parkinsonism show responsiveness to dopaminergic medication defined as a substantial reduction of amelioration of the component signs of Parkinsonism (including mainly tremor, bradykinesia, rigidity, and postural instability) upon administration of dopaminergic medication.
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.

Professional guidelines

PubMed

Hattori N
Parkinsonism Relat Disord 2012 Jan;18 Suppl 1:S1-3. doi: 10.1016/S1353-8020(11)70003-7. PMID: 22166400
Krygowska-Wajs A, Kachergus JM, Hulihan MM, Farrer MJ, Searcy JA, Booij J, Berendse HW, Wolters ECh, Wszolek ZK
J Neural Transm (Vienna) 2005 Nov;112(11):1487-502. Epub 2005 Mar 23 doi: 10.1007/s00702-005-0290-8. PMID: 15785861

Recent clinical studies

Etiology

Gustavsson EK, Follett J, Trinh J, Barodia SK, Real R, Liu Z, Grant-Peters M, Fox JD, Appel-Cresswell S, Stoessl AJ, Rajput A, Rajput AH, Auer R, Tilney R, Sturm M, Haack TB, Lesage S, Tesson C, Brice A, Vilariño-Güell C, Ryten M, Goldberg MS, West AB, Hu MT, Morris HR, Sharma M, Gan-Or Z, Samanci B, Lis P, Periñan MT, Amouri R, Ben Sassi S, Hentati F; Global Parkinson's Genetics Program (GP2), Tonelli F, Alessi DR, Farrer MJ
Lancet Neurol 2024 Jun;23(6):603-614. Epub 2024 Apr 10 doi: 10.1016/S1474-4422(24)00121-2. PMID: 38614108Free PMC Article
Arora S, Ligoxygakis P
Front Immunol 2020;11:1574. Epub 2020 Jul 22 doi: 10.3389/fimmu.2020.01574. PMID: 32774336Free PMC Article
Sharma M, Ioannidis JP, Aasly JO, Annesi G, Brice A, Bertram L, Bozi M, Barcikowska M, Crosiers D, Clarke CE, Facheris MF, Farrer M, Garraux G, Gispert S, Auburger G, Vilariño-Güell C, Hadjigeorgiou GM, Hicks AA, Hattori N, Jeon BS, Jamrozik Z, Krygowska-Wajs A, Lesage S, Lill CM, Lin JJ, Lynch T, Lichtner P, Lang AE, Libioulle C, Murata M, Mok V, Jasinska-Myga B, Mellick GD, Morrison KE, Meitnger T, Zimprich A, Opala G, Pramstaller PP, Pichler I, Park SS, Quattrone A, Rogaeva E, Ross OA, Stefanis L, Stockton JD, Satake W, Silburn PA, Strom TM, Theuns J, Tan EK, Toda T, Tomiyama H, Uitti RJ, Van Broeckhoven C, Wirdefeldt K, Wszolek Z, Xiromerisiou G, Yomono HS, Yueh KC, Zhao Y, Gasser T, Maraganore D, Krüger R; GEOPD consortium
J Med Genet 2012 Nov;49(11):721-6. doi: 10.1136/jmedgenet-2012-101155. PMID: 23125461Free PMC Article
Seki N, Takahashi Y, Tomiyama H, Rogaeva E, Murayama S, Mizuno Y, Hattori N, Marras C, Lang AE, George-Hyslop PS, Goto J, Tsuji S
J Hum Genet 2011 Sep;56(9):671-5. Epub 2011 Jul 28 doi: 10.1038/jhg.2011.79. PMID: 21796139
Payami H, Zareparsi S
J Geriatr Psychiatry Neurol 1998 Summer;11(2):98-106. doi: 10.1177/089198879801100207. PMID: 9877530

Diagnosis

Gustavsson EK, Follett J, Trinh J, Barodia SK, Real R, Liu Z, Grant-Peters M, Fox JD, Appel-Cresswell S, Stoessl AJ, Rajput A, Rajput AH, Auer R, Tilney R, Sturm M, Haack TB, Lesage S, Tesson C, Brice A, Vilariño-Güell C, Ryten M, Goldberg MS, West AB, Hu MT, Morris HR, Sharma M, Gan-Or Z, Samanci B, Lis P, Periñan MT, Amouri R, Ben Sassi S, Hentati F; Global Parkinson's Genetics Program (GP2), Tonelli F, Alessi DR, Farrer MJ
Lancet Neurol 2024 Jun;23(6):603-614. Epub 2024 Apr 10 doi: 10.1016/S1474-4422(24)00121-2. PMID: 38614108Free PMC Article
Hattori N
Parkinsonism Relat Disord 2012 Jan;18 Suppl 1:S1-3. doi: 10.1016/S1353-8020(11)70003-7. PMID: 22166400
Bettencourt C, Santos C, Coutinho P, Rizzu P, Vasconcelos J, Kay T, Cymbron T, Raposo M, Heutink P, Lima M
BMC Neurol 2011 Oct 24;11:131. doi: 10.1186/1471-2377-11-131. PMID: 22023810Free PMC Article
Bialecka M, Hui S, Klodowska-Duda G, Opala G, Tan EK, Drozdzik M
Neurosci Lett 2005 Dec 16;390(1):1-3. doi: 10.1016/j.neulet.2005.07.045. PMID: 16115731

Therapy

Hatano T, Funayama M, Kubo SI, Mata IF, Oji Y, Mori A, Zabetian CP, Waldherr SM, Yoshino H, Oyama G, Shimo Y, Fujimoto KI, Oshima H, Kunii Y, Yabe H, Mizuno Y, Hattori N
Neurobiol Aging 2014 Nov;35(11):2656.e17-2656.e23. Epub 2014 Jun 2 doi: 10.1016/j.neurobiolaging.2014.05.025. PMID: 24973808Free PMC Article
Bialecka M, Hui S, Klodowska-Duda G, Opala G, Tan EK, Drozdzik M
Neurosci Lett 2005 Dec 16;390(1):1-3. doi: 10.1016/j.neulet.2005.07.045. PMID: 16115731
Barbeau A, Roy M
Can J Neurol Sci 1984 Feb;11(1 Suppl):144-50. doi: 10.1017/s0317167100046308. PMID: 6713312

Prognosis

Korvatska O, Leverenz JB, Jayadev S, McMillan P, Kurtz I, Guo X, Rumbaugh M, Matsushita M, Girirajan S, Dorschner MO, Kiianitsa K, Yu CE, Brkanac Z, Garden GA, Raskind WH, Bird TD
JAMA Neurol 2015 Aug;72(8):920-7. doi: 10.1001/jamaneurol.2015.0979. PMID: 26076170Free PMC Article
Bialecka M, Hui S, Klodowska-Duda G, Opala G, Tan EK, Drozdzik M
Neurosci Lett 2005 Dec 16;390(1):1-3. doi: 10.1016/j.neulet.2005.07.045. PMID: 16115731

Clinical prediction guides

Gustavsson EK, Follett J, Trinh J, Barodia SK, Real R, Liu Z, Grant-Peters M, Fox JD, Appel-Cresswell S, Stoessl AJ, Rajput A, Rajput AH, Auer R, Tilney R, Sturm M, Haack TB, Lesage S, Tesson C, Brice A, Vilariño-Güell C, Ryten M, Goldberg MS, West AB, Hu MT, Morris HR, Sharma M, Gan-Or Z, Samanci B, Lis P, Periñan MT, Amouri R, Ben Sassi S, Hentati F; Global Parkinson's Genetics Program (GP2), Tonelli F, Alessi DR, Farrer MJ
Lancet Neurol 2024 Jun;23(6):603-614. Epub 2024 Apr 10 doi: 10.1016/S1474-4422(24)00121-2. PMID: 38614108Free PMC Article
Kim J, Daadi EW, Oh T, Daadi ES, Daadi MM
Genes (Basel) 2022 Oct 25;13(11) doi: 10.3390/genes13111937. PMID: 36360174Free PMC Article
Korvatska O, Leverenz JB, Jayadev S, McMillan P, Kurtz I, Guo X, Rumbaugh M, Matsushita M, Girirajan S, Dorschner MO, Kiianitsa K, Yu CE, Brkanac Z, Garden GA, Raskind WH, Bird TD
JAMA Neurol 2015 Aug;72(8):920-7. doi: 10.1001/jamaneurol.2015.0979. PMID: 26076170Free PMC Article
Seki N, Takahashi Y, Tomiyama H, Rogaeva E, Murayama S, Mizuno Y, Hattori N, Marras C, Lang AE, George-Hyslop PS, Goto J, Tsuji S
J Hum Genet 2011 Sep;56(9):671-5. Epub 2011 Jul 28 doi: 10.1038/jhg.2011.79. PMID: 21796139
Payami H, Zareparsi S
J Geriatr Psychiatry Neurol 1998 Summer;11(2):98-106. doi: 10.1177/089198879801100207. PMID: 9877530

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