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Parkinsonism with polyneuropathy(PKNPY)

MedGen UID:
1783451
Concept ID:
C5543299
Disease or Syndrome
Synonyms: PARKINSONISM WITH POLYNEUROPATHY; PKNPY
 
Gene (location): UQCRC1 (3p21.31)
 
Monarch Initiative: MONDO:0036193
OMIM®: 619279
Orphanet: ORPHA611237

Definition

Parkinsonism with polyneuropathy (PKNPY) is an autosomal dominant disorder characterized by asymmetrical tremor-dependent parkinsonism. The age of onset ranges from the late forties to mid-sixties, and patients have a good response to levodopa (summary by Lin et al., 2020). [from OMIM]

Clinical features

From HPO
Anxiety
MedGen UID:
1613
Concept ID:
C0003467
Finding
Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.
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.
Polyneuropathy
MedGen UID:
57502
Concept ID:
C0152025
Disease or Syndrome
A generalized disorder of peripheral nerves.
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.
Diffuse cerebral atrophy
MedGen UID:
108958
Concept ID:
C0598275
Finding
Diffuse unlocalised atrophy affecting the cerebrum.
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.
Decreased motor nerve conduction velocity
MedGen UID:
388130
Concept ID:
C1858729
Finding
A type of decreased nerve conduction velocity that affects the motor neuron.
Decreased amplitude of sensory action potentials
MedGen UID:
870496
Concept ID:
C4024943
Finding
A reduction in the amplitude of sensory nerve action potential. This feature is measured by nerve conduction studies.
Decreased compound muscle action potential amplitude
MedGen UID:
908357
Concept ID:
C4230625
Finding
Reduced level of the compound muscle action potential (CMAP), which is recorded following electrical stimulation of a nerve from surface electrodes overlying a muscle supplied by that nerve.
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.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVParkinsonism with polyneuropathy

Professional guidelines

PubMed

Holm A, Hansen SN, Klitgaard H, Kauppinen S
RNA Biol 2022;19(1):594-608. Epub 2021 Dec 31 doi: 10.1080/15476286.2022.2066334. PMID: 35482908Free PMC Article
Becker PM, Novak M
Curr Med Res Opin 2014 Aug;30(8):1441-60. Epub 2014 May 9 doi: 10.1185/03007995.2014.918029. PMID: 24805265
Finsterer J, Strobl W
Eur Neurol 2010;64(1):1-8. Epub 2010 Jun 8 doi: 10.1159/000314897. PMID: 20634620

Recent clinical studies

Etiology

Pedroso JL, Vale TC, Freitas JL, Araújo FMM, Meira AT, Neto PB, França MC Junior, Tumas V, Teive HAG, Barsottini OGP
Arq Neuropsiquiatr 2023 Nov;81(11):1000-1007. Epub 2023 Nov 30 doi: 10.1055/s-0043-1777005. PMID: 38035585Free PMC Article
Efremova I, Maslennikov R, Poluektova E, Vasilieva E, Zharikov Y, Suslov A, Letyagina Y, Kozlov E, Levshina A, Ivashkin V
World J Gastroenterol 2023 Jun 14;29(22):3400-3421. doi: 10.3748/wjg.v29.i22.3400. PMID: 37389240Free PMC Article
Holm A, Hansen SN, Klitgaard H, Kauppinen S
RNA Biol 2022;19(1):594-608. Epub 2021 Dec 31 doi: 10.1080/15476286.2022.2066334. PMID: 35482908Free PMC Article
Van de Vondel L, De Winter J, Beijer D, Coarelli G, Wayand M, Palvadeau R, Pauly MG, Klein K, Rautenberg M, Guillot-Noël L, Deconinck T, Vural A, Ertan S, Dogu O, Uysal H, Brankovic V, Herzog R, Brice A, Durr A, Klebe S, Stock F, Bischoff AT, Rattay TW, Sobrido MJ, De Michele G, De Jonghe P, Klopstock T, Lohmann K, Zanni G, Santorelli FM, Timmerman V, Haack TB, Züchner S; PREPARE Consortium, Schüle R, Stevanin G, Synofzik M, Basak AN, Baets J
Mov Disord 2022 Jun;37(6):1175-1186. Epub 2022 Feb 12 doi: 10.1002/mds.28959. PMID: 35150594Free PMC Article
Pearson TS, Pons R, Ghaoui R, Sue CM
Mov Disord 2019 May;34(5):625-636. Epub 2019 Mar 26 doi: 10.1002/mds.27655. PMID: 30913345

Diagnosis

Mousele C, Holden D, Gnanapavan S
Adv Clin Chem 2024;123:65-128. Epub 2024 Jul 8 doi: 10.1016/bs.acc.2024.06.010. PMID: 39181624
Pedroso JL, Vale TC, Freitas JL, Araújo FMM, Meira AT, Neto PB, França MC Junior, Tumas V, Teive HAG, Barsottini OGP
Arq Neuropsiquiatr 2023 Nov;81(11):1000-1007. Epub 2023 Nov 30 doi: 10.1055/s-0043-1777005. PMID: 38035585Free PMC Article
Pearson TS, Pons R, Ghaoui R, Sue CM
Mov Disord 2019 May;34(5):625-636. Epub 2019 Mar 26 doi: 10.1002/mds.27655. PMID: 30913345
Pirker W, Katzenschlager R
Wien Klin Wochenschr 2017 Feb;129(3-4):81-95. Epub 2016 Oct 21 doi: 10.1007/s00508-016-1096-4. PMID: 27770207Free PMC Article
Hentati F, Hentati E, Amouri R
Handb Clin Neurol 2013;115:933-8. doi: 10.1016/B978-0-444-52902-2.00052-7. PMID: 23931822

Therapy

Saffari A, Kellner M, Jordan C, Rosengarten H, Mo A, Zhang B, Strelko O, Neuser S, Davis MY, Yoshikura N, Futamura N, Takeuchi T, Nabatame S, Ishiura H, Tsuji S, Aldeen HS, Cali E, Rocca C, Houlden H, Efthymiou S, Assmann B, Yoon G, Trombetta BA, Kivisäkk P, Eichler F, Nan H, Takiyama Y, Tessa A, Santorelli FM, Sahin M, Blackstone C, Yang E, Schüle R, Ebrahimi-Fakhari D
Brain 2023 May 2;146(5):2003-2015. doi: 10.1093/brain/awac391. PMID: 36315648Free PMC Article
Holm A, Hansen SN, Klitgaard H, Kauppinen S
RNA Biol 2022;19(1):594-608. Epub 2021 Dec 31 doi: 10.1080/15476286.2022.2066334. PMID: 35482908Free PMC Article
Lundt S, Ding S
Genes (Basel) 2021 Nov 9;12(11) doi: 10.3390/genes12111776. PMID: 34828382Free PMC Article
Varghaei P, Yoon G, Estiar MA, Veyron S, Leveille E, Dupré N, Trempe JF, Rouleau GA, Gan-Or Z
Clin Genet 2021 Jul;100(1):51-58. Epub 2021 Mar 18 doi: 10.1111/cge.13955. PMID: 33713342
Dechant G, Neumann H
Adv Exp Med Biol 2002;513:303-34. doi: 10.1007/978-1-4615-0123-7_11. PMID: 12575826

Prognosis

Mousele C, Holden D, Gnanapavan S
Adv Clin Chem 2024;123:65-128. Epub 2024 Jul 8 doi: 10.1016/bs.acc.2024.06.010. PMID: 39181624
Efremova I, Maslennikov R, Poluektova E, Vasilieva E, Zharikov Y, Suslov A, Letyagina Y, Kozlov E, Levshina A, Ivashkin V
World J Gastroenterol 2023 Jun 14;29(22):3400-3421. doi: 10.3748/wjg.v29.i22.3400. PMID: 37389240Free PMC Article
Varghaei P, Yoon G, Estiar MA, Veyron S, Leveille E, Dupré N, Trempe JF, Rouleau GA, Gan-Or Z
Clin Genet 2021 Jul;100(1):51-58. Epub 2021 Mar 18 doi: 10.1111/cge.13955. PMID: 33713342
Pearson TS, Pons R, Ghaoui R, Sue CM
Mov Disord 2019 May;34(5):625-636. Epub 2019 Mar 26 doi: 10.1002/mds.27655. PMID: 30913345
Hentati F, Hentati E, Amouri R
Handb Clin Neurol 2013;115:933-8. doi: 10.1016/B978-0-444-52902-2.00052-7. PMID: 23931822

Clinical prediction guides

Pedroso JL, Vale TC, Freitas JL, Araújo FMM, Meira AT, Neto PB, França MC Junior, Tumas V, Teive HAG, Barsottini OGP
Arq Neuropsiquiatr 2023 Nov;81(11):1000-1007. Epub 2023 Nov 30 doi: 10.1055/s-0043-1777005. PMID: 38035585Free PMC Article
Alecu JE, Saffari A, Ziegler M, Jordan C, Tam A, Kim S, Leung E, Szczaluba K, Mierzewska H, King SD, Santorelli FM, Yoon G, Trombetta B, Kivisäkk P, Zhang B, Sahin M, Ebrahimi-Fakhari D
Mov Disord 2023 Sep;38(9):1742-1750. Epub 2023 Jul 22 doi: 10.1002/mds.29524. PMID: 37482941Free PMC Article
Chen YJ, Wang MW, Qiu YS, Yuan RY, Wang N, Lin X, Chen WJ
Mov Disord 2023 Sep;38(9):1750-1755. Epub 2023 Jul 2 doi: 10.1002/mds.29522. PMID: 37394769
Pirker W, Katzenschlager R
Wien Klin Wochenschr 2017 Feb;129(3-4):81-95. Epub 2016 Oct 21 doi: 10.1007/s00508-016-1096-4. PMID: 27770207Free PMC Article
Dechant G, Neumann H
Adv Exp Med Biol 2002;513:303-34. doi: 10.1007/978-1-4615-0123-7_11. PMID: 12575826

Recent systematic reviews

Sanami S, Shamsabadi S, Dayhimi A, Pirhayati M, Ahmad S, Pirhayati A, Ajami M, Hemati S, Shirvani M, Alagha A, Abbarin D, Alizadeh A, Pazoki-Toroudi H
Rev Med Virol 2024 May;34(3):e2532. doi: 10.1002/rmv.2532. PMID: 38549138
Modica JS, Déry C, Canissario R, Logigian E, Bonno D, Stanton M, Dupré N, McDermott MP, Bouchard M, Lang AE, Lizarraga KJ
J Neurol Sci 2023 Jul 15;450:120690. Epub 2023 May 18 doi: 10.1016/j.jns.2023.120690. PMID: 37210937
Veazie S, Peterson K, Ansari Y, Chung KA, Gibbons CH, Raj SR, Helfand M
Cochrane Database Syst Rev 2021 May 17;5(5):CD012868. doi: 10.1002/14651858.CD012868.pub2. PMID: 34000076Free PMC Article
Lai CH, Chen HC, Liou TH, Li W, Chen SC
Am J Phys Med Rehabil 2019 Oct;98(10):921-930. doi: 10.1097/PHM.0000000000001247. PMID: 31206360
Zis P, Grünewald RA, Chaudhuri RK, Hadjivassiliou M
J Neurol Sci 2017 Jul 15;378:204-209. Epub 2017 May 11 doi: 10.1016/j.jns.2017.05.023. PMID: 28566165

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