[Recurrent psychotic symtoms over several years were caused by Huntington's disease]

Area of Science:

• Genetics
• Neuroscience
• Neurology

Background:

• Huntington disease (HD) is a progressive neurodegenerative disorder.
• It is caused by an expanded CAG repeat in the huntingtin gene, inherited in an autosomal dominant manner.
• Approximately 15% of cases result from spontaneous CAG repeat expansion.

Purpose of the Study:

• To highlight the importance of recognizing Huntington disease (HD) based on its diverse clinical presentation.
• To emphasize the need for further investigation of HD, even without a known family history.
• To underscore the urgency for accurate diagnosis given ongoing therapeutic advancements.

Main Methods:

• Clinical presentation analysis of Huntington disease (HD).
• Review of genetic inheritance patterns and spontaneous mutations.
• Assessment of diagnostic challenges and the role of early symptoms.

Main Results:

• Clinical manifestations include chorea, dysarthria, dysphagia, cognitive decline, psychiatric issues, and weight loss.
• Psychiatric and cognitive symptoms often appear 15 years before motor symptoms.
• HD is likely underdiagnosed due to the prominence of early non-motor symptoms.

Conclusions:

• The diverse clinical presentation of Huntington disease (HD), including early psychiatric and cognitive symptoms, necessitates thorough investigation.
• Accurate diagnosis is critical for patient management and to prepare for emerging disease-modifying treatments.
• Increased awareness and diagnostic efforts are essential to address the underdiagnosis of HD.