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Parkin Mutations and Their Functional Consequences

The recruitment status of this study is unknown. The completion date has passed and the status has not been verified in more than two years.
Verified December 2007 by Institut National de la Santé Et de la Recherche Médicale, France.
Recruitment status was:  Active, not recruiting
National Institutes of Health (NIH)
Information provided by:
Institut National de la Santé Et de la Recherche Médicale, France Identifier:
First received: August 26, 2005
Last updated: December 3, 2007
Last verified: December 2007

Parkinson's disease (PD) is the most frequent neurodegenerative disease with a prevalence of 2% over 65 years and because of this high prevalence as the population ages, it is a major problem of public health.

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.

Condition Phase
Parkinson's Disease
Phase 1

Study Type: Observational
Study Design: Time Perspective: Prospective
Official Title: Parkin Mutations and Their Functional Consequences

Resource links provided by NLM:

Further study details as provided by Institut National de la Santé Et de la Recherche Médicale, France:

Estimated Enrollment: 2500
Study Start Date: June 2002
Estimated Study Completion Date: May 2006

Ages Eligible for Study:   18 Years to 80 Years   (Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes

Inclusion Criteria:

  • Patients presenting with Parkinson's disease, with a family history or not,
  • 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:

  • Persons refusing to sign the informed consent,
  • Lack of clinical information
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Please refer to this study by its identifier: NCT00136721

Hôpital Pitié-Salpêtrière
Paris, France, 75013
Sponsors and Collaborators
Institut National de la Santé Et de la Recherche Médicale, France
National Institutes of Health (NIH)
Principal Investigator: Alexis Brice, MD Assistance Publique - Hôpitaux de Paris, University Paris 6
  More Information

Additional Information:
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.

Responsible Party: Alexis Brice, Inserm Identifier: NCT00136721     History of Changes
Other Study ID Numbers: 9HD01H
R01NS041723-01A1 ( US NIH Grant/Contract Award Number )
Study First Received: August 26, 2005
Last Updated: December 3, 2007

Keywords provided by Institut National de la Santé Et de la Recherche Médicale, France:
Parkinson's disease
phenotype-genotype correlations
mutations spectrum
candidate genes

Additional relevant MeSH terms:
Parkinson Disease
Parkinsonian Disorders
Basal Ganglia Diseases
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Movement Disorders
Neurodegenerative Diseases processed this record on May 25, 2017