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Parkinson disease 21(PARK21)

MedGen UID:
903105
Concept ID:
C4225353
Disease or Syndrome
Synonym: PARK21
 
Monarch Initiative: MONDO:0014604
OMIM®: 616361

Definition

Parkinson disease-21 (PARK21) is an autosomal dominant form of typical adult-onset Parkinson disease characterized by tremor, rigidity, bradykinesia, postural instability, and good response to levodopa treatment (summary by Vilarino-Guell et al., 2014). For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see PD (168600). [from OMIM]

Clinical features

From HPO
Tremor
MedGen UID:
21635
Concept ID:
C0040822
Sign or Symptom
An unintentional, oscillating to-and-fro muscle movement about a joint axis.
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.
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).
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.
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.
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

Wieling W, Kaufmann H, Claydon VE, van Wijnen VK, Harms MPM, Juraschek SP, Thijs RD
Lancet Neurol 2022 Aug;21(8):735-746. doi: 10.1016/S1474-4422(22)00169-7. PMID: 35841911Free PMC Article
Alexopoulos GS
Transl Psychiatry 2019 Aug 5;9(1):188. doi: 10.1038/s41398-019-0514-6. PMID: 31383842Free PMC Article
Niemann N, Jankovic J
Parkinsonism Relat Disord 2019 Oct;67:74-89. Epub 2019 Jun 30 doi: 10.1016/j.parkreldis.2019.06.025. PMID: 31272925

Recent clinical studies

Etiology

Knight E, Geetha T, Burnett D, Babu JR
Nutrients 2022 Oct 25;14(21) doi: 10.3390/nu14214472. PMID: 36364733Free PMC Article
Weintraub D, Aarsland D, Chaudhuri KR, Dobkin RD, Leentjens AF, Rodriguez-Violante M, Schrag A
Lancet Neurol 2022 Jan;21(1):89-102. doi: 10.1016/S1474-4422(21)00330-6. PMID: 34942142Free PMC Article
Mehanna R, Jankovic J
Parkinsonism Relat Disord 2019 Aug;65:39-48. Epub 2019 Jun 1 doi: 10.1016/j.parkreldis.2019.06.001. PMID: 31176633
Bellou V, Belbasis L, Tzoulaki I, Evangelou E, Ioannidis JP
Parkinsonism Relat Disord 2016 Feb;23:1-9. Epub 2015 Dec 17 doi: 10.1016/j.parkreldis.2015.12.008. PMID: 26739246
Li F, Harmer P, Fitzgerald K, Eckstrom E, Stock R, Galver J, Maddalozzo G, Batya SS
N Engl J Med 2012 Feb 9;366(6):511-9. doi: 10.1056/NEJMoa1107911. PMID: 22316445Free PMC Article

Diagnosis

Weintraub D, Aarsland D, Chaudhuri KR, Dobkin RD, Leentjens AF, Rodriguez-Violante M, Schrag A
Lancet Neurol 2022 Jan;21(1):89-102. doi: 10.1016/S1474-4422(21)00330-6. PMID: 34942142Free PMC Article
Kumar S, Goyal L, Singh S
CNS Neurol Disord Drug Targets 2022;21(7):596-609. doi: 10.2174/1871527320666211006142100. PMID: 34620070
Yasuhara T
Int J Mol Sci 2020 Jan 25;21(3) doi: 10.3390/ijms21030793. PMID: 31991804Free PMC Article
Mehanna R, Jankovic J
Parkinsonism Relat Disord 2019 Aug;65:39-48. Epub 2019 Jun 1 doi: 10.1016/j.parkreldis.2019.06.001. PMID: 31176633
Martínez-Martín P, Rodríguez-Blázquez C, Mario Alvarez, Arakaki T, Arillo VC, Chaná P, Fernández W, Garretto N, Martínez-Castrillo JC, Rodríguez-Violante M, Serrano-Dueñas M, Ballesteros D, Rojo-Abuin JM, Chaudhuri KR, Merello M
Parkinsonism Relat Disord 2015 Jan;21(1):50-4. Epub 2014 Nov 5 doi: 10.1016/j.parkreldis.2014.10.026. PMID: 25466406

Therapy

Pazzaglia C, Imbimbo I, Tranchita E, Minganti C, Ricciardi D, Lo Monaco R, Parisi A, Padua L
Physiotherapy 2020 Mar;106:36-42. Epub 2019 Dec 23 doi: 10.1016/j.physio.2019.12.007. PMID: 32026844
Pérez de la Cruz S
Eur J Phys Rehabil Med 2017 Dec;53(6):825-832. Epub 2017 Jun 19 doi: 10.23736/S1973-9087.17.04647-0. PMID: 28627861
Sherrington C, Michaleff ZA, Fairhall N, Paul SS, Tiedemann A, Whitney J, Cumming RG, Herbert RD, Close JCT, Lord SR
Br J Sports Med 2017 Dec;51(24):1750-1758. Epub 2016 Oct 4 doi: 10.1136/bjsports-2016-096547. PMID: 27707740
Bellou V, Belbasis L, Tzoulaki I, Evangelou E, Ioannidis JP
Parkinsonism Relat Disord 2016 Feb;23:1-9. Epub 2015 Dec 17 doi: 10.1016/j.parkreldis.2015.12.008. PMID: 26739246
Li F, Harmer P, Fitzgerald K, Eckstrom E, Stock R, Galver J, Maddalozzo G, Batya SS
N Engl J Med 2012 Feb 9;366(6):511-9. doi: 10.1056/NEJMoa1107911. PMID: 22316445Free PMC Article

Prognosis

Weintraub D, Aarsland D, Chaudhuri KR, Dobkin RD, Leentjens AF, Rodriguez-Violante M, Schrag A
Lancet Neurol 2022 Jan;21(1):89-102. doi: 10.1016/S1474-4422(21)00330-6. PMID: 34942142Free PMC Article
Liu Z, Cheung HH
Int J Mol Sci 2020 Oct 29;21(21) doi: 10.3390/ijms21218060. PMID: 33137927Free PMC Article
Hacker ML, Turchan M, Heusinkveld LE, Currie AD, Millan SH, Molinari AL, Konrad PE, Davis TL, Phibbs FT, Hedera P, Cannard KR, Wang L, Charles D
Neurology 2020 Jul 28;95(4):e393-e401. Epub 2020 Jun 29 doi: 10.1212/WNL.0000000000009946. PMID: 32601120Free PMC Article
De Pablo-Fernández E, Lees AJ, Holton JL, Warner TT
JAMA Neurol 2019 Apr 1;76(4):470-479. doi: 10.1001/jamaneurol.2018.4377. PMID: 30640364Free PMC Article
Bellou V, Belbasis L, Tzoulaki I, Evangelou E, Ioannidis JP
Parkinsonism Relat Disord 2016 Feb;23:1-9. Epub 2015 Dec 17 doi: 10.1016/j.parkreldis.2015.12.008. PMID: 26739246

Clinical prediction guides

Pazzaglia C, Imbimbo I, Tranchita E, Minganti C, Ricciardi D, Lo Monaco R, Parisi A, Padua L
Physiotherapy 2020 Mar;106:36-42. Epub 2019 Dec 23 doi: 10.1016/j.physio.2019.12.007. PMID: 32026844
Bellou V, Belbasis L, Tzoulaki I, Evangelou E, Ioannidis JP
Parkinsonism Relat Disord 2016 Feb;23:1-9. Epub 2015 Dec 17 doi: 10.1016/j.parkreldis.2015.12.008. PMID: 26739246
Martínez-Martín P, Rodríguez-Blázquez C, Mario Alvarez, Arakaki T, Arillo VC, Chaná P, Fernández W, Garretto N, Martínez-Castrillo JC, Rodríguez-Violante M, Serrano-Dueñas M, Ballesteros D, Rojo-Abuin JM, Chaudhuri KR, Merello M
Parkinsonism Relat Disord 2015 Jan;21(1):50-4. Epub 2014 Nov 5 doi: 10.1016/j.parkreldis.2014.10.026. PMID: 25466406
Li F, Harmer P, Fitzgerald K, Eckstrom E, Stock R, Galver J, Maddalozzo G, Batya SS
N Engl J Med 2012 Feb 9;366(6):511-9. doi: 10.1056/NEJMoa1107911. PMID: 22316445Free PMC Article
Troche MS, Okun MS, Rosenbek JC, Musson N, Fernandez HH, Rodriguez R, Romrell J, Pitts T, Wheeler-Hegland KM, Sapienza CM
Neurology 2010 Nov 23;75(21):1912-9. doi: 10.1212/WNL.0b013e3181fef115. PMID: 21098406Free PMC Article

Recent systematic reviews

Solch RJ, Aigbogun JO, Voyiadjis AG, Talkington GM, Darensbourg RM, O'Connell S, Pickett KM, Perez SR, Maraganore DM
J Neurol Sci 2022 Mar 15;434:120166. Epub 2022 Jan 26 doi: 10.1016/j.jns.2022.120166. PMID: 35144237
Gamborg M, Hvid LG, Dalgas U, Langeskov-Christensen M
Acta Neurol Scand 2022 May;145(5):504-528. Epub 2022 Jan 8 doi: 10.1111/ane.13579. PMID: 34997759
Machado Sotomayor MJ, Arufe-Giráldez V, Ruíz-Rico G, Navarro-Patón R
Int J Environ Res Public Health 2021 Nov 4;18(21) doi: 10.3390/ijerph182111618. PMID: 34770129Free PMC Article
Lei C, Sunzi K, Dai F, Liu X, Wang Y, Zhang B, He L, Ju M
PLoS One 2019;14(11):e0224819. Epub 2019 Nov 7 doi: 10.1371/journal.pone.0224819. PMID: 31697777Free PMC Article
Sherrington C, Michaleff ZA, Fairhall N, Paul SS, Tiedemann A, Whitney J, Cumming RG, Herbert RD, Close JCT, Lord SR
Br J Sports Med 2017 Dec;51(24):1750-1758. Epub 2016 Oct 4 doi: 10.1136/bjsports-2016-096547. PMID: 27707740

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