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 Video

Updated: Jun 11, 2026

Comprehensive Profiling of Dopamine Regulation in Substantia Nigra and Ventral Tegmental Area
09:54

Comprehensive Profiling of Dopamine Regulation in Substantia Nigra and Ventral Tegmental Area

Published on: August 10, 2012

Exploring dopaminergic activity in ring chromosome 20 syndrome: a SPECT study.

A Del Sole1, V Chiesa, G Lucignani

  • 1Department of Biomedical Sciences and Technologies and Center of Molecular and Cellular Imaging (IMAGO), University of Milan, Milan, Italy - angelo.delsole@unimi.it.

The Quarterly Journal of Nuclear Medicine and Molecular Imaging : Official Publication of the Italian Association of Nuclear Medicine (AIMN) [And] the International Association of Radiopharmacology (IAR), [And] Section of the Society Of
|June 30, 2010
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

Biochemical fingerprinting of dried blood serum from chronic lymphocytic leukemia patients by Raman spectroscopy: Towards prognostic classification.

Spectrochimica acta. Part A, Molecular and biomolecular spectroscopy·2025
Same author

UBA5-epileptic encephalopathy: new patient, a novel variant, and a review of epileptic phenotypes.

Epileptic disorders : international epilepsy journal with videotape·2025
Same author

Determinants of sustainable adoption in primary care of a clinical decision support system for antimicrobial prescribing: A qualitative study.

Infectious diseases now·2025
Same author

Retrospective multicenter study on cryptogenic NORSE/FIRES patients treated with anakinra.

Seizure·2025
Same author

Assessment of Clinical and Neurological Alterations Before Radiation Therapy in Children With Malignant Brain Tumours.

Clinical oncology (Royal College of Radiologists (Great Britain))·2025
Same author

Comparison of "IN-REC-SUR-E" and LISA in preterm neonates with respiratory distress syndrome: a randomized controlled trial (IN-REC-LISA trial).

Trials·2024

Epilepsy in ring chromosome 20 syndrome is linked to dopamine system changes. Reduced dopamine transporter (DAT) expression and increased D2 receptor density correlate with seizure frequency in these patients.

Area of Science:

  • Neuroscience
  • Genetics
  • Radiology

Background:

  • The dopaminergic system is implicated in epileptic seizure propagation.
  • DOPA metabolism impairment has been observed in ring chromosome 20 [r(20)] patients.
  • Previous studies suggest a link between dopamine and epilepsy in r(20) syndrome.

Purpose of the Study:

  • To investigate correlations between r(20) mosaicism and clinical variables.
  • To assess pre-synaptic dopamine transporter (DAT) expression and post-synaptic D2 receptor density in r(20) patients.
  • To explore the relationship between dopaminergic markers and epilepsy characteristics in r(20) syndrome.

Main Methods:

  • Five patients with r(20) and epilepsy were included.
  • Dopamine transporter (DAT) expression and D2 receptor density were measured using single photon emission tomography (SPECT) with [123I]ioflupane and [123I]IBZM.

More Related Videos

Identification of Dopamine D1-Alpha Receptor Within Rodent Nucleus Accumbens by an Innovative RNA In Situ Detection Technology
07:25

Identification of Dopamine D1-Alpha Receptor Within Rodent Nucleus Accumbens by an Innovative RNA In Situ Detection Technology

Published on: March 27, 2018

Standardized Data Acquisition for Neuromelanin-Sensitive Magnetic Resonance Imaging of the Substantia Nigra
05:14

Standardized Data Acquisition for Neuromelanin-Sensitive Magnetic Resonance Imaging of the Substantia Nigra

Published on: September 8, 2021

Related Experiment Videos

Last Updated: Jun 11, 2026

Comprehensive Profiling of Dopamine Regulation in Substantia Nigra and Ventral Tegmental Area
09:54

Comprehensive Profiling of Dopamine Regulation in Substantia Nigra and Ventral Tegmental Area

Published on: August 10, 2012

Identification of Dopamine D1-Alpha Receptor Within Rodent Nucleus Accumbens by an Innovative RNA In Situ Detection Technology
07:25

Identification of Dopamine D1-Alpha Receptor Within Rodent Nucleus Accumbens by an Innovative RNA In Situ Detection Technology

Published on: March 27, 2018

Standardized Data Acquisition for Neuromelanin-Sensitive Magnetic Resonance Imaging of the Substantia Nigra
05:14

Standardized Data Acquisition for Neuromelanin-Sensitive Magnetic Resonance Imaging of the Substantia Nigra

Published on: September 8, 2021

  • Linear correlations were examined between r(20) mosaicism, clinical variables, and radiotracer binding.

    • Main Results:

    • A significant positive correlation was found between seizure frequency and r(20) mosaicism (r=0.903, P<0.05).
    • A negative correlation was observed between r(20) mosaicism and [123I]ioflupane binding in the putamen and caudate nucleus (r=-0.692 and r=-807; P<0.05), indicating reduced DAT expression.
    • Seizure frequency was positively correlated with post-synaptic D2 receptor density (r=0.925, P<0.05).

    Conclusions:

    • Striatal neurons are involved in the pathophysiology of r(20) epilepsy.
    • The observed relationship between r(20) mosaicism and dopamine transporter (DAT) expression suggests a role for the dopaminergic system.
    • Pharmacological agents targeting the dopaminergic system may offer a therapeutic strategy for this rare epilepsy.