Study Results
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Basic Information
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COMPLETED
2500 participants
OBSERVATIONAL
2005-02-08
2021-02-07
Brief Summary
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An exhaustive repertory of not only parkin mutations in autosomal recessive forms of PD but also in other known genes such as DJ-1, PINK1 and LRRK2, is of major importance for both genetic counseling in families affected with PD and physiopathological approaches to this disease.
Through a French network for the study of Parkinson's disease genetics and extended collaborations with European, Mediterranean and other various countries, a total of 2934 subjects including 1683 patients and 1251 unaffected individuals has been collected since 2002. These samples consisted of 122 families with autosomal recessive PD, 285 cases of isolated early onset PD, 110 autosomal recessive and 129 autosomal dominant families with late onset PD, 201 isolated late onset PD cases and 250 matched controls.
DNAs from all subjects are now available, lymphocytes and lymphoblastoid cell lines have been stored for most patients from France and recently, fresh fibroblasts have been obtained for some individuals.
The genetic approach to autosomal recessive PD is focused on the identification of mutations in the parkin gene but also on the screening of DJ-1, PINK1 and LRRK2 genes.
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Detailed Description
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Conditions
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Study Design
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CASE_CONTROL
PROSPECTIVE
Study Groups
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Parkinson
A large cohort of 655 patients with early-onset Parkinsons's disease (PD), 589 with late-onset PD and 390 patients with autosomal dominant PD have been sampled, according to the age at onset and family history.
No interventions assigned to this group
Paired controls
Setting up a collection of controls matched with patients for age, gender and geographic origin at each center
No interventions assigned to this group
Eligibility Criteria
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Inclusion Criteria
* Minors presenting clinical signs of the disease,
* Controls (without signs of the disease, matched by sex and age with the patients, relatives for the familial cases)
Exclusion Criteria
* Lack of clinical information
18 Years
80 Years
ALL
Yes
Sponsors
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National Institutes of Health (NIH)
NIH
Institut National de la Santé Et de la Recherche Médicale, France
OTHER_GOV
Responsible Party
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Principal Investigators
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Alexis Brice, MD
Role: PRINCIPAL_INVESTIGATOR
Assistance Publique - Hôpitaux de Paris, University Paris 6
Locations
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Hôpital Pitié-Salpêtrière
Paris, , France
Countries
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References
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Lesage S, Magali P, Lohmann E, Lacomblez L, Teive H, Janin S, Cousin PY, Durr A, Brice A; French Parkinson Disease Genetics Study Group. Deletion of the parkin and PACRG gene promoter in early-onset parkinsonism. Hum Mutat. 2007 Jan;28(1):27-32. doi: 10.1002/humu.20436.
Lesage S, Janin S, Lohmann E, Leutenegger AL, Leclere L, Viallet F, Pollak P, Durif F, Thobois S, Layet V, Vidailhet M, Agid Y, Durr A, Brice A; French Parkinson's Disease Genetics Study Group; Bonnet AM, Borg M, Broussolle E, Damier P, Destee A, Martinez M, Penet C, Rasco O, Tison F, Tranchan C, Verin M. LRRK2 exon 41 mutations in sporadic Parkinson disease in Europeans. Arch Neurol. 2007 Mar;64(3):425-30. doi: 10.1001/archneur.64.3.425.
Foroud T, Pankratz N, Martinez M; PROGENI/GSPD-European Consortium. Chromosome 5 and Parkinson disease. Eur J Hum Genet. 2006 Oct;14(10):1106-10. doi: 10.1038/sj.ejhg.5201666. Epub 2006 May 31.
Rawal N, Periquet M, Lohmann E, Lucking CB, Teive HA, Ambrosio G, Raskin S, Lincoln S, Hattori N, Guimaraes J, Horstink MW, Dos Santos Bele W, Brousolle E, Destee A, Mizuno Y, Farrer M, Deleuze JF, De Michele G, Agid Y, Durr A, Brice A; French Parkinson's Disease Genetics Study Group; European Consortium on Genetic Susceptibility in Parkinson's Disease. New parkin mutations and atypical phenotypes in families with autosomal recessive parkinsonism. Neurology. 2003 Apr 22;60(8):1378-81. doi: 10.1212/01.wnl.0000056167.89221.be.
Periquet M, Latouche M, Lohmann E, Rawal N, De Michele G, Ricard S, Teive H, Fraix V, Vidailhet M, Nicholl D, Barone P, Wood NW, Raskin S, Deleuze JF, Agid Y, Durr A, Brice A; French Parkinson's Disease Genetics Study Group; European Consortium on Genetic Susceptibility in Parkinson's Disease. Parkin mutations are frequent in patients with isolated early-onset parkinsonism. Brain. 2003 Jun;126(Pt 6):1271-8. doi: 10.1093/brain/awg136.
Ibanez P, Lohmann E, Pollak P, Durif F, Tranchant C, Agid Y, Durr A, Brice A; French Parkinson's Disease Genetics Study Group. Absence of NR4A2 exon 1 mutations in 108 families with autosomal dominant Parkinson disease. Neurology. 2004 Jun 8;62(11):2133-4. doi: 10.1212/01.wnl.0000127496.23198.75. No abstract available.
Ibanez P, De Michele G, Bonifati V, Lohmann E, Thobois S, Pollak P, Agid Y, Heutink P, Durr A, Brice A; French Parkinson's Disease Genetics Study Group. Screening for DJ-1 mutations in early onset autosomal recessive parkinsonism. Neurology. 2003 Nov 25;61(10):1429-31. doi: 10.1212/01.wnl.0000094121.48373.fd.
Lucking CB, Chesneau V, Lohmann E, Verpillat P, Dulac C, Bonnet AM, Gasparini F, Agid Y, Durr A, Brice A. Coding polymorphisms in the parkin gene and susceptibility to Parkinson disease. Arch Neurol. 2003 Sep;60(9):1253-6. doi: 10.1001/archneur.60.9.1253.
Lohmann E, Periquet M, Bonifati V, Wood NW, De Michele G, Bonnet AM, Fraix V, Broussolle E, Horstink MW, Vidailhet M, Verpillat P, Gasser T, Nicholl D, Teive H, Raskin S, Rascol O, Destee A, Ruberg M, Gasparini F, Meco G, Agid Y, Durr A, Brice A; French Parkinson's Disease Genetics Study Group; European Consortium on Genetic Susceptibility in Parkinson's Disease. How much phenotypic variation can be attributed to parkin genotype? Ann Neurol. 2003 Aug;54(2):176-85. doi: 10.1002/ana.10613.
Lesage S, Durr A, Tazir M, Lohmann E, Leutenegger AL, Janin S, Pollak P, Brice A; French Parkinson's Disease Genetics Study Group. LRRK2 G2019S as a cause of Parkinson's disease in North African Arabs. N Engl J Med. 2006 Jan 26;354(4):422-3. doi: 10.1056/NEJMc055540. No abstract available.
Ibanez P, Lesage S, Lohmann E, Thobois S, De Michele G, Borg M, Agid Y, Durr A, Brice A; French Parkinson's Disease Genetics Study Group. Mutational analysis of the PINK1 gene in early-onset parkinsonism in Europe and North Africa. Brain. 2006 Mar;129(Pt 3):686-94. doi: 10.1093/brain/awl005. Epub 2006 Jan 9.
Leutenegger AL, Salih MA, Ibanez P, Mukhtar MM, Lesage S, Arabi A, Lohmann E, Durr A, Ahmed AE, Brice A. Juvenile-onset Parkinsonism as a result of the first mutation in the adenosine triphosphate orientation domain of PINK1. Arch Neurol. 2006 Sep;63(9):1257-61. doi: 10.1001/archneur.63.9.1257.
Brice A, Lohmann E, Ibanez P, Periquet M, Laine S, Debarges B, Lesage S, Dürr A. Phenotype/genotype correlations in Parkinson's disease. In: Relationships in Neurodegenerative Diseases, Cummings, Hardy, Poncet and Christen (Eds), Springer-Verlag Berlin Heidelberg Eds, 153-64, 2005.
Lohmann E, Dürr A, Ruberg M, Brice A. Parkin. In: Parkinson's Disease: Genetic and Pathogenesis, Dawson Eds, in press, 2006.
Brice A. [What can we learn from genes responsible for familial forms of Parkinson's disease?]. Bull Acad Natl Med. 2006 Feb;190(2):485-96; discussion 497-8. French.
Ishihara L, Warren L, Gibson R, Amouri R, Lesage S, Durr A, Tazir M, Wszolek ZK, Uitti RJ, Nichols WC, Griffith A, Hattori N, Leppert D, Watts R, Zabetian CP, Foroud TM, Farrer MJ, Brice A, Middleton L, Hentati F. Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations. Arch Neurol. 2006 Sep;63(9):1250-4. doi: 10.1001/archneur.63.9.1250.
Related Links
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Related Info
Other Identifiers
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DGS2004/0511
Identifier Type: REGISTRY
Identifier Source: secondary_id
RBM03-48
Identifier Type: -
Identifier Source: org_study_id
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