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Background <p>Trinucleotide disorders are a&#xa0;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.</p> Objectives <p>Neuroradiological signs in trinucleotide disorders.</p> Methods <p>A&#xa0;search in pubmed.gov was conducted to identify studies reflecting the current state of knowledge.</p> Results <p>An overview of the most common trinucleotide disorders and their characteristic radiological features is provided.</p> Conclusion <p>As in many degenerative diseases, imaging represents only one piece of the puzzle and primarily provides guidance as to the diagnostic direction.</p>

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Trinukleotid-Erkrankungen

  • 期刊论文

  • 发表日期：

    2026年2月16日

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  • Armin Bachhuber

摘要

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.