Related Experiment Video
Updated: Feb 17, 2026
Author Spotlight: Characterizing DNA Replication of Pathogenic Repeats to Uncover Mechanisms of Replication Fork Stalling and Expansion
Published on: September 13, 2024
[Trinucleotide repeat disorders]
1Klinik für diagnostische und interventionelle Neuroradiologie, Universitätsklinikum des Saarlandes, Kirrberger Straße, 66421, Homburg, Deutschland. Armin.Bachhuber@uks.eu.
Background:
Trinucleotide disorders are a heterogeneous group that lead to neurodegeneration with severe motor and psychiatric impairments. Neither the clinical presentation nor the radiological signs are specific, leading to frequent misdiagnoses.
Objectives:
Neuroradiological signs in trinucleotide disorders.
Methods:
A search in pubmed.gov was conducted to identify studies reflecting the current state of knowledge.
Results:
An overview of the most common trinucleotide disorders and their characteristic radiological features is provided.
Conclusion:
As in many degenerative diseases, imaging represents only one piece of the puzzle and primarily provides guidance as to the diagnostic direction.
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