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In the earliest stages of disease, Huntington’s disease can be, less frequently, characterized by cognitive and behavioral symptoms. Genetic testing is the routine standard in the diagnostic pathway of HD. [18F]FDG (FDG) PET is usually not performed, in some challenging presentations, HD may represent a rare but important differential diagnosis of cognitive impairment, especially when cognitive or psychiatric symptoms are the initial signs of the disease, before motor symptoms are manifest. In these unexpected presentations, FDG-PET images interpretation may play a role by demonstrating a peculiar hypometabolic pattern and guiding the subsequent diagnostic hypothesis and flowchart.

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Case 22: Huntington’s Disease with Psychiatric Onset

  • 章节

  • 发表日期：

    2025年

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  • Silvia Morbelli,
  • Matteo Bauckneht

摘要

In the earliest stages of disease, Huntington’s disease can be, less frequently, characterized by cognitive and behavioral symptoms. Genetic testing is the routine standard in the diagnostic pathway of HD. [18F]FDG (FDG) PET is usually not performed, in some challenging presentations, HD may represent a rare but important differential diagnosis of cognitive impairment, especially when cognitive or psychiatric symptoms are the initial signs of the disease, before motor symptoms are manifest. In these unexpected presentations, FDG-PET images interpretation may play a role by demonstrating a peculiar hypometabolic pattern and guiding the subsequent diagnostic hypothesis and flowchart.