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Autosomal dominant Parkinson disease 4(PARK4)

MedGen UID:
381361
Concept ID:
C1854182
Disease or Syndrome
Synonyms: Parkinson disease 4; PARKINSON DISEASE 4, AUTOSOMAL DOMINANT LEWY BODY
 
Gene (location): SNCA (4q22.1)
 
Monarch Initiative: MONDO:0011562
OMIM®: 605543

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
Weight loss
MedGen UID:
853198
Concept ID:
C1262477
Finding
Reduction of total body weight.
Abnormal autonomic nervous system physiology
MedGen UID:
8511
Concept ID:
C0013363
Disease or Syndrome
A functional abnormality of the autonomic nervous system.
Hallucinations
MedGen UID:
6709
Concept ID:
C0018524
Mental or Behavioral Dysfunction
Perceptions in a conscious and awake state that, in the absence of external stimuli, have qualities of real perception. These perceptions are vivid, substantial, and located in external objective space.
Orthostatic hypotension
MedGen UID:
43803
Concept ID:
C0020651
Disease or Syndrome
A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position.
Lewy bodies
MedGen UID:
43126
Concept ID:
C0085200
Cell Component
Intracytoplasmic, eosinophilic, round to elongated inclusions found in vacuoles of injured or fragmented neurons. The presence of Lewy bodies is the histological marker of the degenerative changes in LEWY BODY DISEASE and PARKINSON DISEASE but they may be seen in other neurological conditions. They are typically found in the substantia nigra and locus coeruleus but they are also seen in the basal forebrain, hypothalamic nuclei, and neocortex.
Parkinsonian disorder
MedGen UID:
66079
Concept ID:
C0242422
Disease or Syndrome
Characteristic neurologic anomaly resulting from 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.
Dementia
MedGen UID:
99229
Concept ID:
C0497327
Mental or Behavioral Dysfunction
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.
Paranoia
MedGen UID:
306130
Concept ID:
C1456784
Mental or Behavioral Dysfunction
An inappropriate feeling of being persecuted or being the subject of hostility from others.

Professional guidelines

PubMed

Caritativo ECA, Yu JRT, Bautista JMP, Nishioka K, Jamora RDG, Yalung PM, Ng AR, Hattori N
Parkinsonism Relat Disord 2023 Mar;108:105319. Epub 2023 Feb 7 doi: 10.1016/j.parkreldis.2023.105319. PMID: 36774704
Fernández-Ramos JA, De la Torre-Aguilar MJ, Quintáns B, Pérez-Navero JL, Beyer K, López-Laso E; Spanish Segawa Disease Research group
Parkinsonism Relat Disord 2022 Jan;94:67-78. Epub 2021 Nov 25 doi: 10.1016/j.parkreldis.2021.11.014. PMID: 34890878
Crawford P, Zimmerman EE
Am Fam Physician 2018 Feb 1;97(3):180-186. PMID: 29431985

Recent clinical studies

Etiology

Ettinger S
Curr Nutr Rep 2022 Dec;11(4):643-652. Epub 2022 Aug 26 doi: 10.1007/s13668-022-00435-y. PMID: 36018501
Jellinger KA
J Neural Transm (Vienna) 2022 Jun;129(5-6):521-543. Epub 2021 Aug 7 doi: 10.1007/s00702-021-02392-2. PMID: 34363531
Hur EM, Lee BD
Genes (Basel) 2021 Mar 29;12(4) doi: 10.3390/genes12040505. PMID: 33805527Free PMC Article
Zhao Y, Qin L, Pan H, Liu Z, Jiang L, He Y, Zeng Q, Zhou X, Zhou X, Zhou Y, Fang Z, Wang Z, Xiang Y, Yang H, Wang Y, Zhang K, Zhang R, He R, Zhou X, Zhou Z, Yang N, Liang D, Chen J, Zhang X, Zhou Y, Liu H, Deng P, Xu K, Xu K, Zhou C, Zhong J, Xu Q, Sun Q, Li B, Zhao G, Wang T, Chen L, Shang H, Liu W, Chan P, Xue Z, Wang Q, Guo L, Wang X, Xu C, Zhang Z, Chen T, Lei L, Zhang H, Wang C, Tan J, Yan X, Shen L, Jiang H, Zhang Z, Hu Z, Xia K, Yue Z, Li J, Guo J, Tang B
Brain 2020 Jul 1;143(7):2220-2234. doi: 10.1093/brain/awaa167. PMID: 32613234
Sundal C, Fujioka S, Uitti RJ, Wszolek ZK
Parkinsonism Relat Disord 2012 Jan;18 Suppl 1:S7-10. doi: 10.1016/S1353-8020(11)70005-0. PMID: 22166459

Diagnosis

Asken BM, Ljubenkov PA, Staffaroni AM, Casaletto KB, Vandevrede L, Cobigo Y, Rojas-Rodriguez JC, Rankin KP, Kornak J, Heuer H, Shigenaga J, Appleby BS, Bozoki AC, Domoto-Reilly K, Ghoshal N, Huey E, Litvan I, Masdeu JC, Mendez MF, Pascual B, Pressman P, Tartaglia MC, Kremers W, Forsberg LK, Boeve BF, Boxer AL, Rosen HJ, Kramer JH; ALLFTD Consortium Investigators
J Neurol Neurosurg Psychiatry 2023 Jul;94(7):541-549. Epub 2023 Mar 28 doi: 10.1136/jnnp-2022-330866. PMID: 36977552Free PMC Article
Zhao Y, Qin L, Pan H, Liu Z, Jiang L, He Y, Zeng Q, Zhou X, Zhou X, Zhou Y, Fang Z, Wang Z, Xiang Y, Yang H, Wang Y, Zhang K, Zhang R, He R, Zhou X, Zhou Z, Yang N, Liang D, Chen J, Zhang X, Zhou Y, Liu H, Deng P, Xu K, Xu K, Zhou C, Zhong J, Xu Q, Sun Q, Li B, Zhao G, Wang T, Chen L, Shang H, Liu W, Chan P, Xue Z, Wang Q, Guo L, Wang X, Xu C, Zhang Z, Chen T, Lei L, Zhang H, Wang C, Tan J, Yan X, Shen L, Jiang H, Zhang Z, Hu Z, Xia K, Yue Z, Li J, Guo J, Tang B
Brain 2020 Jul 1;143(7):2220-2234. doi: 10.1093/brain/awaa167. PMID: 32613234
Puschmann A
Curr Neurol Neurosci Rep 2017 Sep;17(9):66. doi: 10.1007/s11910-017-0780-8. PMID: 28733970Free PMC Article
Sundal C, Fujioka S, Uitti RJ, Wszolek ZK
Parkinsonism Relat Disord 2012 Jan;18 Suppl 1:S7-10. doi: 10.1016/S1353-8020(11)70005-0. PMID: 22166459
Nygaard TG
Curr Opin Neurol 1995 Aug;8(4):310-3. doi: 10.1097/00019052-199508000-00011. PMID: 7582048

Therapy

Fernández-Ramos JA, De la Torre-Aguilar MJ, Quintáns B, Pérez-Navero JL, Beyer K, López-Laso E; Spanish Segawa Disease Research group
Parkinsonism Relat Disord 2022 Jan;94:67-78. Epub 2021 Nov 25 doi: 10.1016/j.parkreldis.2021.11.014. PMID: 34890878
Trender-Gerhard I, Sweeney MG, Schwingenschuh P, Mir P, Edwards MJ, Gerhard A, Polke JM, Hanna MG, Davis MB, Wood NW, Bhatia KP
J Neurol Neurosurg Psychiatry 2009 Aug;80(8):839-45. Epub 2009 Mar 29 doi: 10.1136/jnnp.2008.155861. PMID: 19332422
McGeer PL, McGeer EG
Mov Disord 2008 Mar 15;23(4):474-83. doi: 10.1002/mds.21751. PMID: 18044695
Schapira AH
Neurology 2002 Feb 26;58(4 Suppl 1):S9-18. doi: 10.1212/wnl.58.suppl_1.s9. PMID: 11909981
Nygaard TG
Curr Opin Neurol 1995 Aug;8(4):310-3. doi: 10.1097/00019052-199508000-00011. PMID: 7582048

Prognosis

Cherian A, K P D, Vijayaraghavan A
Curr Opin Neurol 2023 Aug 1;36(4):292-301. Epub 2023 May 24 doi: 10.1097/WCO.0000000000001167. PMID: 37366140
Asken BM, Ljubenkov PA, Staffaroni AM, Casaletto KB, Vandevrede L, Cobigo Y, Rojas-Rodriguez JC, Rankin KP, Kornak J, Heuer H, Shigenaga J, Appleby BS, Bozoki AC, Domoto-Reilly K, Ghoshal N, Huey E, Litvan I, Masdeu JC, Mendez MF, Pascual B, Pressman P, Tartaglia MC, Kremers W, Forsberg LK, Boeve BF, Boxer AL, Rosen HJ, Kramer JH; ALLFTD Consortium Investigators
J Neurol Neurosurg Psychiatry 2023 Jul;94(7):541-549. Epub 2023 Mar 28 doi: 10.1136/jnnp-2022-330866. PMID: 36977552Free PMC Article
Vöglein J, Paumier K, Jucker M, Preische O, McDade E, Hassenstab J, Benzinger TL, Noble JM, Berman SB, Graff-Radford NR, Ghetti B, Farlow MR, Chhatwal J, Salloway S, Xiong C, Karch CM, Cairns N, Mori H, Schofield PR, Masters CL, Goate A, Buckles V, Fox N, Rossor M, Chrem P, Allegri R, Ringman JM, Höglinger G, Steiner H, Dieterich M, Haass C, Laske C, Morris JC, Bateman RJ, Danek A, Levin J; Dominantly Inherited Alzheimer Network
Brain 2019 May 1;142(5):1429-1440. doi: 10.1093/brain/awz050. PMID: 30897203Free PMC Article
Alcalay RN, Levy OA, Waters CC, Fahn S, Ford B, Kuo SH, Mazzoni P, Pauciulo MW, Nichols WC, Gan-Or Z, Rouleau GA, Chung WK, Wolf P, Oliva P, Keutzer J, Marder K, Zhang X
Brain 2015 Sep;138(Pt 9):2648-58. Epub 2015 Jun 27 doi: 10.1093/brain/awv179. PMID: 26117366Free PMC Article
Schapira AH
Neurology 2002 Feb 26;58(4 Suppl 1):S9-18. doi: 10.1212/wnl.58.suppl_1.s9. PMID: 11909981

Clinical prediction guides

Cherian A, K P D, Vijayaraghavan A
Curr Opin Neurol 2023 Aug 1;36(4):292-301. Epub 2023 May 24 doi: 10.1097/WCO.0000000000001167. PMID: 37366140
Asken BM, Ljubenkov PA, Staffaroni AM, Casaletto KB, Vandevrede L, Cobigo Y, Rojas-Rodriguez JC, Rankin KP, Kornak J, Heuer H, Shigenaga J, Appleby BS, Bozoki AC, Domoto-Reilly K, Ghoshal N, Huey E, Litvan I, Masdeu JC, Mendez MF, Pascual B, Pressman P, Tartaglia MC, Kremers W, Forsberg LK, Boeve BF, Boxer AL, Rosen HJ, Kramer JH; ALLFTD Consortium Investigators
J Neurol Neurosurg Psychiatry 2023 Jul;94(7):541-549. Epub 2023 Mar 28 doi: 10.1136/jnnp-2022-330866. PMID: 36977552Free PMC Article
Vöglein J, Paumier K, Jucker M, Preische O, McDade E, Hassenstab J, Benzinger TL, Noble JM, Berman SB, Graff-Radford NR, Ghetti B, Farlow MR, Chhatwal J, Salloway S, Xiong C, Karch CM, Cairns N, Mori H, Schofield PR, Masters CL, Goate A, Buckles V, Fox N, Rossor M, Chrem P, Allegri R, Ringman JM, Höglinger G, Steiner H, Dieterich M, Haass C, Laske C, Morris JC, Bateman RJ, Danek A, Levin J; Dominantly Inherited Alzheimer Network
Brain 2019 May 1;142(5):1429-1440. doi: 10.1093/brain/awz050. PMID: 30897203Free PMC Article
Konno T, Ross OA, Puschmann A, Dickson DW, Wszolek ZK
Parkinsonism Relat Disord 2016 Jan;22 Suppl 1(Suppl 1):S1-6. Epub 2015 Sep 3 doi: 10.1016/j.parkreldis.2015.09.007. PMID: 26350119Free PMC Article
Lynch-Day MA, Mao K, Wang K, Zhao M, Klionsky DJ
Cold Spring Harb Perspect Med 2012 Apr;2(4):a009357. doi: 10.1101/cshperspect.a009357. PMID: 22474616Free PMC Article

Recent systematic reviews

Fereshtehnejad SM, Saleh PA, Oliveira LM, Patel N, Bhowmick S, Saranza G, Kalia LV
Neurol Sci 2023 Mar;44(3):947-959. Epub 2022 Nov 28 doi: 10.1007/s10072-022-06516-8. PMID: 36441344Free PMC Article
Li Y, Hai S, Zhou Y, Dong BR
Cochrane Database Syst Rev 2015 Mar 3;2015(3):CD009444. doi: 10.1002/14651858.CD009444.pub3. PMID: 25734590Free PMC Article
Benamer HT, de Silva R, Siddiqui KA, Grosset DG
Mov Disord 2008 Jul 15;23(9):1205-10. doi: 10.1002/mds.22041. PMID: 18442138

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