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Young-onset Parkinson disease

MedGen UID:
907947
Concept ID:
C4275179
Disease or Syndrome
Synonyms: Early onset Parkinson disease; Early onset Parkinson's disease; Early-onset Parkinson disease; early-onset Parkinson disease; early-onset Parkinson's disease; YOPD; Young onset Parkinson disease; Young onset Parkinson's disease; young-onset Parkinson disease
SNOMED CT: Young onset Parkinson disease (715345007); Young onset Parkinson's disease (715345007); Early onset Parkinson disease (715345007); Early onset Parkinson's disease (715345007)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Monarch Initiative: MONDO:0017279
Orphanet: ORPHA2828

Definition

A form of Parkinson disease with age of onset between 21 and 45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints, falls and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most forms. The exact etiology is still unknown. Gene mutations have been implicated in some cases, most cases are sporadic however familial cases have been reported in which an autosomal recessive mode of inheritance has been suggested. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Young-onset Parkinson disease

Professional guidelines

PubMed

Reichmann H
J Neural Transm (Vienna) 2016 Jan;123(1):73-80. Epub 2015 Aug 21 doi: 10.1007/s00702-015-1441-1. PMID: 26293352
Shim H, Ly MJ, Tighe SK
Psychiatr Clin North Am 2015 Jun;38(2):281-94. Epub 2015 Mar 12 doi: 10.1016/j.psc.2015.01.007. PMID: 25998116
Pollak P, Fraix V, Krack P, Moro E, Mendes A, Chabardes S, Koudsie A, Benabid AL
Mov Disord 2002;17 Suppl 3:S75-83. doi: 10.1002/mds.10146. PMID: 11948759

Recent clinical studies

Etiology

Lee JM, Pak K
Medicine (Baltimore) 2023 Nov 3;102(44):e35861. doi: 10.1097/MD.0000000000035861. PMID: 37933060Free PMC Article
Park HR, Youn J, Cho JW, Oh ES, Kim JS, Park S, Jang W, Park JS
Neurodegener Dis 2018;18(1):19-25. Epub 2018 Jan 12 doi: 10.1159/000484249. PMID: 29324447
Ravenek M, Rudman DL, Jenkins ME, Spaulding S
Chronic Illn 2017 Dec;13(4):288-298. Epub 2017 Feb 20 doi: 10.1177/1742395317694699. PMID: 29119863
Di Fonzo A, Chien HF, Socal M, Giraudo S, Tassorelli C, Iliceto G, Fabbrini G, Marconi R, Fincati E, Abbruzzese G, Marini P, Squitieri F, Horstink MW, Montagna P, Libera AD, Stocchi F, Goldwurm S, Ferreira JJ, Meco G, Martignoni E, Lopiano L, Jardim LB, Oostra BA, Barbosa ER; Italian Parkinson Genetics Network, Bonifati V
Neurology 2007 May 8;68(19):1557-62. doi: 10.1212/01.wnl.0000260963.08711.08. PMID: 17485642
Thobois S, Ribeiro MJ, Lohmann E, Dürr A, Pollak P, Rascol O, Guillouet S, Chapoy E, Costes N, Agid Y, Remy P, Brice A, Broussolle E; French Parkinson's Disease Genetics Study Group
Arch Neurol 2003 May;60(5):713-8. doi: 10.1001/archneur.60.5.713. PMID: 12756135

Diagnosis

El Kodsi DN, Tokarew JM, Sengupta R, Lengacher NA, Chatterji A, Nguyen AP, Boston H, Jiang Q, Palmberg C, Pileggi C, Holterman CE, Shutinoski B, Li J, Fehr TK, LaVoie MJ, Ratan RR, Shaw GS, Takanashi M, Hattori N, Kennedy CR, Harper ME, Holmgren A, Tomlinson JJ, Schlossmacher MG
Acta Neuropathol Commun 2023 Jan 23;11(1):19. doi: 10.1186/s40478-022-01488-4. PMID: 36691076Free PMC Article
Park HR, Youn J, Cho JW, Oh ES, Kim JS, Park S, Jang W, Park JS
Neurodegener Dis 2018;18(1):19-25. Epub 2018 Jan 12 doi: 10.1159/000484249. PMID: 29324447
Maltête D, Grangeon L, Le Goff F, Ozel G, Fetter D, Ahtoy P, Temgoua O, Rouillé A, Lefaucheur R
Obstet Gynecol 2017 Jul;130(1):203-206. doi: 10.1097/AOG.0000000000002066. PMID: 28594769
Damásio J, Ramos C, Valdemar L, da Silva AM, Magalhães M
Neurologist 2011 Sep;17(5):286-8. doi: 10.1097/NRL.0b013e318224ed84. PMID: 21881474
Di Fonzo A, Chien HF, Socal M, Giraudo S, Tassorelli C, Iliceto G, Fabbrini G, Marconi R, Fincati E, Abbruzzese G, Marini P, Squitieri F, Horstink MW, Montagna P, Libera AD, Stocchi F, Goldwurm S, Ferreira JJ, Meco G, Martignoni E, Lopiano L, Jardim LB, Oostra BA, Barbosa ER; Italian Parkinson Genetics Network, Bonifati V
Neurology 2007 May 8;68(19):1557-62. doi: 10.1212/01.wnl.0000260963.08711.08. PMID: 17485642

Therapy

Kuo MC, Tai CH, Tseng SH, Wu RM
Eur J Neurol 2022 Aug;29(8):2544-2547. doi: 10.1111/ene.15339. PMID: 35837753
Lohmann E, Thobois S, Lesage S, Broussolle E, du Montcel ST, Ribeiro MJ, Remy P, Pelissolo A, Dubois B, Mallet L, Pollak P, Agid Y, Brice A; French Parkinson's Disease Genetics Study Group
Neurology 2009 Jan 13;72(2):110-6. Epub 2008 Nov 5 doi: 10.1212/01.wnl.0000327098.86861.d4. PMID: 18987353Free PMC Article

Prognosis

Lohmann E, Thobois S, Lesage S, Broussolle E, du Montcel ST, Ribeiro MJ, Remy P, Pelissolo A, Dubois B, Mallet L, Pollak P, Agid Y, Brice A; French Parkinson's Disease Genetics Study Group
Neurology 2009 Jan 13;72(2):110-6. Epub 2008 Nov 5 doi: 10.1212/01.wnl.0000327098.86861.d4. PMID: 18987353Free PMC Article

Clinical prediction guides

Lee JM, Pak K
Medicine (Baltimore) 2023 Nov 3;102(44):e35861. doi: 10.1097/MD.0000000000035861. PMID: 37933060Free PMC Article
Kuo MC, Tai CH, Tseng SH, Wu RM
Eur J Neurol 2022 Aug;29(8):2544-2547. doi: 10.1111/ene.15339. PMID: 35837753
Park HR, Youn J, Cho JW, Oh ES, Kim JS, Park S, Jang W, Park JS
Neurodegener Dis 2018;18(1):19-25. Epub 2018 Jan 12 doi: 10.1159/000484249. PMID: 29324447
Thobois S, Ribeiro MJ, Lohmann E, Dürr A, Pollak P, Rascol O, Guillouet S, Chapoy E, Costes N, Agid Y, Remy P, Brice A, Broussolle E; French Parkinson's Disease Genetics Study Group
Arch Neurol 2003 May;60(5):713-8. doi: 10.1001/archneur.60.5.713. PMID: 12756135

Recent systematic reviews

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