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Trinucleotide repeat disorders
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DOI：10.1007/s00117-026-01561-2.png)
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Abstract
En 中文
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.
Keywords:
Huntington's disease
Friedreich's ataxia
Spinocerebellar ataxias
Dentatorubral-pallidoluysian atrophy
Spinobulbar muscular atrophy
Huntington's disease
Friedreich's ataxia
Spinocerebellar ataxias
Dentatorubral-pallidoluysian atrophy
Spinobulbar muscular atrophy