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Parkin Mutations and Their Functional Consequences

2014-08-27 03:52:14 | BioPortfolio

Summary

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.

Study Design

Time Perspective: Prospective

Conditions

Parkinson's Disease

Location

Hôpital Pitié-Salpêtrière
Paris
France
75013

Status

Active, not recruiting

Source

Institut National de la Santé Et de la Recherche Médicale, France

Results (where available)

View Results

Links

Published on BioPortfolio: 2014-08-27T03:52:14-0400

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Parkinson's Repository of Biosamples and Network Datasets (Tracking Parkinson's)

Prospective observational study of Parkinson's disease with repeat clinical assessment and biobanking of blood samples.

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Ultra High Field Magnetic Resonance Imaging as a Biomarker for Premotor Parkinson's Disease

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Molecular Epidemiology of Parkinson's Disease

The aim of this research is to discover genes which modify risk for Parkinson's disease. The study includes 800 patients with Parkinson's disease, and their estimated 1,222 available sibli...

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Diabetes mellitus and Parkinson disease.

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Categorising Visual Hallucinations in Early Parkinson's Disease.

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Common forms of Parkinson's disease have long been described as idiopathic, with no single penetrant genetic factor capable of influencing disease aetiology. Recent genetic studies indicate a clear as...

Medical and Biotech [MESH] Definitions

Proteins associated with sporadic or familial cases of PARKINSON DISEASE.

A condition caused by the neurotoxin MPTP which causes selective destruction of nigrostriatal dopaminergic neurons. Clinical features include irreversible parkinsonian signs including rigidity and bradykinesia (PARKINSON DISEASE, SECONDARY). MPTP toxicity is also used as an animal model for the study of PARKINSON DISEASE. (Adams et al., Principles of Neurology, 6th ed, p1072; Neurology 1986 Feb;36(2):250-8)

A group of disorders which feature impaired motor control characterized by bradykinesia, MUSCLE RIGIDITY; TREMOR; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see PARKINSON DISEASE), secondary parkinsonism (see PARKINSON DISEASE, SECONDARY) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the BASAL GANGLIA.

Parkinsonism following encephalitis, historically seen as a sequella of encephalitis lethargica (Von Economo Encephalitis). The early age of onset, the rapid progression of symptoms followed by stabilization, and the presence of a variety of other neurological disorders (e.g., sociopathic behavior; TICS; MUSCLE SPASMS; oculogyric crises; hyperphagia; and bizarre movements) distinguish this condition from primary PARKINSON DISEASE. Pathologic features include neuronal loss and gliosis concentrated in the MESENCEPHALON; SUBTHALAMUS; and HYPOTHALAMUS. (From Adams et al., Principles of Neurology, 6th ed, p754)

Conditions which feature clinical manifestations resembling primary Parkinson disease that are caused by a known or suspected condition. Examples include parkinsonism caused by vascular injury, drugs, trauma, toxin exposure, neoplasms, infections and degenerative or hereditary conditions. Clinical features may include bradykinesia, rigidity, parkinsonian gait, and masked facies. In general, tremor is less prominent in secondary parkinsonism than in the primary form. (From Joynt, Clinical Neurology, 1998, Ch38, pp39-42)

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