Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

How much phenotypic variation can be attributed to parkin genotype?

Ebba Lohmann1, Magali Periquet, Vincenzo Bonifati

  • 1INSERM U289, Hôpital de la Salpêtrière, Paris, France.

Annals of Neurology
|August 2, 2003
PubMed
Summary

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Anchoring ALS Prognosis: Neurofilament Light Chain Outperforms Inflammatory, Metabolic, and CNS Barrier Biomarkers in the METABALS Cohort.

Molecular neurobiology·2026
Same author

A potential patient stratification biomarker for Parkinson´s disease based on LRRK2 kinase-mediated centrosomal alterations in peripheral blood-derived cells.

NPJ Parkinson's disease·2024
Same author

Baseline Clinical and Blood Biomarkers in Patients With Preataxic and Early-Stage Disease Spinocerebellar Ataxia 1 and 3.

Neurology·2023
Same author

Alterations in the LRRK2-Rab pathway in urinary extracellular vesicles as Parkinson's disease and pharmacodynamic biomarkers.

NPJ Parkinson's disease·2023
Same author

Fast and reliable detection of repeat expansions in spinocerebellar ataxia using exomes.

Journal of medical genetics·2023
Same author

Efficacy and Safety of Leriglitazone in Patients With Friedreich Ataxia: A Phase 2 Double-Blind, Randomized Controlled Trial (FRAMES).

Neurology. Genetics·2022

Parkinson

Area of Science:

  • Neuroscience
  • Genetics
  • Neurology

Background:

  • Early-onset parkinsonism (EOP) presents unique diagnostic and therapeutic challenges.
  • Understanding the genetic underpinnings of EOP is crucial for targeted interventions.

Purpose of the Study:

  • To investigate phenotype-genotype correlations in early-onset parkinsonism.
  • To compare clinical features between patients with and without parkin mutations.

Main Methods:

  • Comparative analysis of 146 patients with parkin mutations and 250 patients without.
  • Logistic regression analysis to identify significant clinical predictors.

Main Results:

  • Parkin mutations are associated with earlier, more symmetrical onset, and slower disease progression.

Related Experiment Videos

  • Missense mutations in functional domains and heterozygous mutations impact disease presentation.
  • Age at onset, rather than mutation presence, correlated with initial dystonia and reflexes.

    • Conclusions:

    • Genotype significantly influences phenotype in early-onset parkinsonism.
    • Parkin mutation carriers exhibit distinct clinical trajectories.
    • Further research into genotype-specific treatments for EOP is warranted.