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

Genotype-phenotype correlation in CAG-repeat diseases.

Mitsunori Yamada1, Shoji Tsuji, Hitoshi Takahashi

  • 1Department of Pathology, Brain Research Institute, Niigata University, Niigata, Japan. nori@bri.niigata-u.ac.jp

Neuropathology : Official Journal of the Japanese Society of Neuropathology
|February 5, 2003
PubMed
Summary
This summary is machine-generated.

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

Serial echocardiography-based diagnosis of a left atrial thrombus mimicking myxoma in severe mitral regurgitation.

European heart journal. Case reports·2026
Same author

An Attempt of a Staining Method to Clarify the Localization of Hematomas in Autopsy Cases of Intracerebral Hemorrhage: Application of Double Staining With Immunohistochemistry for Anti-Synaptophysin Antibody Using DAB-CoCl<sub>2</sub> and EA50.

Neuropathology : official journal of the Japanese Society of Neuropathology·2026
Same author

Hypertensive Bilateral Thalamic Hemorrhage: Distribution of Ruptured Blood Vessels and Hematoma and Considerations on the Mechanism of Vascular Rupture.

Neuropathology : official journal of the Japanese Society of Neuropathology·2026
Same author

Co-aggregation of annexin A11 and TDP-43 in FTLD/MND with primary lateral sclerosis phenotype.

Acta neuropathologica communications·2026
Same author

Time spent in moderate‑ to vigorous‑intensity physical activity is associated with lower limb muscle thickness in collegiate healthy young women without regular exercise habits.

Medicine international·2025
Same author

Long-Term Clinical Landscapes of Spinal Hypertrophic Pachymeningitis With Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis.

Neurology·2025
Same journal

Japanese Encephalitis With a Characteristic Neuropathological Distribution Following Early MRI-Based Diagnosis: An Autopsy Case.

Neuropathology : official journal of the Japanese Society of Neuropathology·2026
Same journal

Probable Early-Stage Anti-Amphiphysin-Related Paraneoplastic Cerebellar Degeneration Associated With Undiagnosed Lung Squamous Cell Carcinoma: An Autopsy Case and Literature Review.

Neuropathology : official journal of the Japanese Society of Neuropathology·2026
Same journal

Colony Stimulating Factor-1 Receptor-Related Disorder Treated With Ilunazebart.

Neuropathology : official journal of the Japanese Society of Neuropathology·2026
Same journal

The First Autopsy-Proven Case of CSF1R-Related Leukoencephalopathy Harboring the p.Cys774Arg Mutation.

Neuropathology : official journal of the Japanese Society of Neuropathology·2026
Same journal

Molecular Evidence for Early Tertiary Lymphoid Structure Formation in Lymphoplasmacyte-Rich Meningioma: A Comment on the Report by Shintaku et al.

Neuropathology : official journal of the Japanese Society of Neuropathology·2026
Same journal

Primary Gliosarcoma With Mesenchymal Differentiation Resembling Follicular Dendritic Cell Sarcoma.

Neuropathology : official journal of the Japanese Society of Neuropathology·2026
See all related articles

CAG repeat expansion causes neurodegenerative diseases like DRPLA. Mutant protein accumulation in the nucleus, beyond neuronal loss, offers new insights into disease mechanisms and symptoms.

Area of Science:

  • Neurogenetics
  • Neuropathology
  • Molecular Biology

Background:

  • CAG repeat expansion is a key mutation in hereditary neurodegenerative disorders, including Dentatorubral-Pallidoluysian Atrophy (DRPLA).
  • Clinical variability in DRPLA is linked to CAG repeat length, but correlations with neuropathology remain unclear.
  • Previous studies focused on neuronal loss, overlooking broader pathological changes.

Purpose of the Study:

  • To investigate the role of mutant protein accumulation in DRPLA pathology.
  • To explore novel neuropathologic findings beyond neuronal loss.
  • To establish clearer clinicopathological correlations in CAG-repeat diseases.

Main Methods:

  • Immunohistochemical analysis of brain tissue.
  • Examination of mutant protein aggregation in the central nervous system (CNS).

Related Experiment Videos

  • Comparison of protein accumulation patterns with established lesion distributions.

    • Main Results:

    • Diffuse intranuclear accumulation of mutant proteins with expanded polyglutamine stretches is a significant pathology in DRPLA.
    • This protein accumulation affects a wider range of CNS regions than previously recognized based on neuronal loss.
    • The findings suggest a novel pathological mechanism in DRPLA.

    Conclusions:

    • Intranuclear mutant protein accumulation is a critical neuropathology in DRPLA.
    • This finding provides a new perspective on the molecular mechanisms underlying neuronal dysfunction in CAG-repeat diseases.
    • It offers a potential basis for improved clinicopathological correlations in these disorders.