Radiologie (Heidelberg, Germany) · 2026
[Trinucleotide repeat disorders].
Аннотация на английскомСтатьяОбзорНазвание и аннотация: Перевод в очереди
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Bachhuber Armin
Аннотация
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.
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.