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Parkinson disease 22, autosomal dominant(PARK22)

MedGen UID:
907886
Concept ID:
C4225238
Disease or Syndrome
Synonym: PARK22
 
Gene (location): CHCHD2 (7p11.2)
 
Monarch Initiative: MONDO:0014742
OMIM®: 616710

Definition

Any Parkinson disease in which the cause of the disease is a mutation in the CHCHD2 gene. [from MONDO]

Clinical features

From HPO
Constipation
MedGen UID:
1101
Concept ID:
C0009806
Sign or Symptom
Infrequent or difficult evacuation of feces.
Depression
MedGen UID:
4229
Concept ID:
C0011581
Mental or Behavioral Dysfunction
Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.
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.
Restless legs
MedGen UID:
48427
Concept ID:
C0035258
Disease or Syndrome
Restless Leg Syndrome (RLS) is a condition characterized by an uncomfortable and restless sensation in the legs that occurs after going to bed, often leading to insomnia.
Hyperreflexia
MedGen UID:
57738
Concept ID:
C0151889
Finding
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
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.
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.
Gait disturbance
MedGen UID:
107895
Concept ID:
C0575081
Finding
The term gait disturbance can refer to any disruption of the ability to walk.
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

Balck A, Schaake S, Kuhnke NS, Domingo A, Madoev H, Margolesky J, Dobricic V, Alvarez-Fischer D, Laabs BH, Kasten M, Luo W, Nicolas G, Marras C, Lohmann K, Klein C, Westenberger A
Mov Disord 2021 Nov;36(11):2468-2480. Epub 2021 Aug 25 doi: 10.1002/mds.28753. PMID: 34432325

Recent clinical studies

Etiology

Satolli S, Rossi S, Vegezzi E, Pellerin D, Manca ML, Barghigiani M, Battisti C, Bilancieri G, Bruno G, Capacci E, Casali C, Ceravolo R, Cocozza S, Cotti Piccinelli S, Criscuolo C, Danzi MC, De Micco R, De Michele G, Dicaire MJ, Falcone GMI, Fancellu R, Ferchichi Y, Ferrari C, Filla A, Fini N, Govoni A, Lo Vecchio F, Malandrini A, Mignarri A, Musumeci O, Nesti C, Pappatà S, Pellecchia MT, Perna A, Petrucci A, Pomponi MG, Ravenni R, Ricca I, Rufa A, Tabolacci E, Tessa A, Tessitore A, Zuchner S, Silvestri G, Cortese A, Brais B, Santorelli FM
J Neurol 2024 Aug;271(8):5478-5488. Epub 2024 Jun 17 doi: 10.1007/s00415-024-12506-x. PMID: 38886208
Emekli I, Tepgeç F, Samancı B, Toksoy G, Hasanoğulları Kına G, Tüfekçioğlu Z, Başaran S, Bilgiç B, Gürvit IH, Emre M, Uyguner ZO, Hanagasi HA
Parkinsonism Relat Disord 2021 Dec;93:35-39. Epub 2021 Nov 3 doi: 10.1016/j.parkreldis.2021.10.024. PMID: 34781237
Balck A, Schaake S, Kuhnke NS, Domingo A, Madoev H, Margolesky J, Dobricic V, Alvarez-Fischer D, Laabs BH, Kasten M, Luo W, Nicolas G, Marras C, Lohmann K, Klein C, Westenberger A
Mov Disord 2021 Nov;36(11):2468-2480. Epub 2021 Aug 25 doi: 10.1002/mds.28753. PMID: 34432325
Daniel G, Moore DJ
Curr Top Behav Neurosci 2015;22:331-68. doi: 10.1007/7854_2014_311. PMID: 24850078
Iranzo A, Comella CL, Santamaria J, Oertel W
Mov Disord 2007;22 Suppl 18:S424-30. doi: 10.1002/mds.21600. PMID: 17534950

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
Puschmann A
Curr Neurol Neurosci Rep 2017 Sep;17(9):66. doi: 10.1007/s11910-017-0780-8. PMID: 28733970Free 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
Petrucci S, Ginevrino M, Valente EM
Parkinsonism Relat Disord 2016 Jan;22 Suppl 1:S16-20. Epub 2015 Aug 18 doi: 10.1016/j.parkreldis.2015.08.015. PMID: 26341711
Fan HC, Chen SJ, Harn HJ, Lin SZ
Cell Transplant 2013;22(4):639-52. Epub 2012 Oct 31 doi: 10.3727/096368912X655082. PMID: 23127617

Therapy

Peterschmitt MJ, Crawford NPS, Gaemers SJM, Ji AJ, Sharma J, Pham TT
Clin Pharmacol Drug Dev 2021 Jan;10(1):86-98. Epub 2020 Aug 26 doi: 10.1002/cpdd.865. PMID: 32851809Free 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
Wilcox RA, Churchyard A, Dahl HH, Hutchison WM, Kirby DM, Thyagarajan D
Mov Disord 2007 May 15;22(7):1020-3. doi: 10.1002/mds.21416. PMID: 17357142

Prognosis

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
Smaili I, Tesson C, Regragui W, Bertrand H, Rahmani M, Bouslam N, Benomar A, Brice A, Lesage S, Bouhouche A
J Mol Neurosci 2021 Jan;71(1):142-152. Epub 2020 Jun 16 doi: 10.1007/s12031-020-01635-3. PMID: 32557143
Thevenon J, Laurent G, Ader F, Laforêt P, Klug D, Duva Pentiah A, Gouya L, Maurage CA, Kacet S, Eicher JC, Albuisson J, Desnos M, Bieth E, Duboc D, Martin L, Réant P, Picard F, Bonithon-Kopp C, Gautier E, Binquet C, Thauvin-Robinet C, Faivre L, Bouvagnet P, Charron P, Richard P
Europace 2017 Apr 1;19(4):651-659. doi: 10.1093/europace/euw067. PMID: 28431061
Hsu SC, Sears RL, Lemos RR, Quintáns B, Huang A, Spiteri E, Nevarez L, Mamah C, Zatz M, Pierce KD, Fullerton JM, Adair JC, Berner JE, Bower M, Brodaty H, Carmona O, Dobricić V, Fogel BL, García-Estevez D, Goldman J, Goudreau JL, Hopfer S, Janković M, Jaumà S, Jen JC, Kirdlarp S, Klepper J, Kostić V, Lang AE, Linglart A, Maisenbacher MK, Manyam BV, Mazzoni P, Miedzybrodzka Z, Mitarnun W, Mitchell PB, Mueller J, Novaković I, Paucar M, Paulson H, Simpson SA, Svenningsson P, Tuite P, Vitek J, Wetchaphanphesat S, Williams C, Yang M, Schofield PR, de Oliveira JR, Sobrido MJ, Geschwind DH, Coppola G
Neurogenetics 2013 Feb;14(1):11-22. Epub 2013 Jan 20 doi: 10.1007/s10048-012-0349-2. PMID: 23334463Free PMC Article
Gasser T, Müller-Myhsok B, Wszolek ZK, Oehlmann R, Calne DB, Bonifati V, Bereznai B, Fabrizio E, Vieregge P, Horstmann RD
Nat Genet 1998 Mar;18(3):262-5. doi: 10.1038/ng0398-262. PMID: 9500549

Clinical prediction guides

Wu J, Cheng X, Ji D, Niu H, Yao S, Lv X, Wang J, Li Z, Zheng H, Cao Y, Zhan F, Zhang M, Tian W, Huang X, Luan X, Cao L
Mov Disord 2024 May;39(5):798-813. Epub 2024 Mar 11 doi: 10.1002/mds.29764. PMID: 38465843
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
Conedera S, Apaydin H, Li Y, Yoshino H, Ikeda A, Matsushima T, Funayama M, Nishioka K, Hattori N
Neurobiol Aging 2016 Apr;40:192.e1-192.e5. Epub 2016 Jan 14 doi: 10.1016/j.neurobiolaging.2016.01.003. PMID: 26882974
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
Lorenzo-Betancor O, Ogaki K, Soto-Ortolaza AI, Labbe C, Walton RL, Strongosky AJ, van Gerpen JA, Uitti RJ, McLean PJ, Springer W, Siuda J, Opala G, Krygowska-Wajs A, Barcikowska M, Czyzewski K, McCarthy A, Lynch T, Puschmann A, Rektorova I, Sanotsky Y, Vilariño-Güell C, Farrer MJ, Ferman TJ, Boeve BF, Petersen RC, Parisi JE, Graff-Radford NR, Dickson DW, Wszolek ZK, Ross OA
Eur J Neurol 2015 Sep;22(9):1323-5. doi: 10.1111/ene.12770. PMID: 26278106Free PMC Article

Recent systematic reviews

Santos-Lobato BL, Schumacher-Schuh A, Mata IF, Letro GH, Braga-Neto P, Brandão PRP, Godeiro-Junior CO, Coletta MVD, Camargos ST, Borges V, Rieder CRM, Tumas V
Arq Neuropsiquiatr 2021 Jul;79(7):612-623. doi: 10.1590/0004-282X-anp-2020-0409. PMID: 34468500
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

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