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Huntington’s disease (HD) is an inherited neurodegenerative disorder caused by an expanded CAG repeat in the HTT gene. Genetic testing represents current routine standard in the diagnostic pathway of HD. However patients might be submitted to [18F]FDG PET to support the differential diagnosis of cognitive impairment or behavioral disturbances and might guide the subsequent work-up of the patient.

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Case 21: Huntington’s Disease with Atypical Onset

  • 章节

  • 发表日期：

    2025年

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  • Silvia Morbelli,
  • Giulia Ferrarazzo

摘要

Huntington’s disease (HD) is an inherited neurodegenerative disorder caused by an expanded CAG repeat in the HTT gene. Genetic testing represents current routine standard in the diagnostic pathway of HD. However patients might be submitted to [18F]FDG PET to support the differential diagnosis of cognitive impairment or behavioral disturbances and might guide the subsequent work-up of the patient.