Huntington’s Disease

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This blog is for informational purposes only and should not be taken as medical advice. Content is sourced from third parties, and we do not guarantee accuracy or accept any liability for its use. Always consult a qualified healthcare professional for medical guidance.

What is Huntington’s?

Huntington’s Disease is an inherited neurodegenerative disorder caused by expanded CAG repeats in the HTT gene (>36 repeats), leading to toxic huntingtin protein accumulation, causing neuronal death in the striatum and cortex. It presents with chorea (involuntary movements), cognitive decline (dementia), psychiatric symptoms (depression, irritability), and motor impairments like dystonia and bradykinesia. Onset typically 30-50 years (earlier with more repeats), with juvenile form (<20 years) in 5-10% showing rigidity and seizures. It affects 30,000 Americans in 2025, with autosomal dominant inheritance (50% risk to offspring), progressing over 15-20 years to total dependency and death from complications like pneumonia or falls.

How MRI is Used for It

MRI in Huntington’s detects early striatal atrophy (caudate/putamen volume loss >20%), progressing to cortical thinning and ventricular enlargement, with volumetric analysis tracking disease severity and predicting symptom onset in presymptomatic carriers with 85% accuracy. Diffusion MRI shows white matter changes, while fMRI assesses functional connectivity loss in basal ganglia networks. In 2025, AI-analyzed MRI detects subtle changes 5-10 years pre-symptom, aiding clinical trials.

What the Future Outlook is

In 2025, no cure exists, but tetrabenazine manages chorea (reducing severity by 50%), and supportive therapies (speech, physical) improve quality of life. Median survival is 15 years post-onset. Future includes HTT-lowering therapies (antisense oligonucleotides like tominersen in trials, reducing huntingtin by 40%), stem cell replacement, and gene editing (CRISPR to correct CAG repeats). AI predicts onset. By 2030, disease-modifying treatments could delay symptoms by 10 years, extending life by 5 years.

What Diagnosis is Used

Diagnosis of Huntington’s is genetic, confirming CAG repeats >36 via blood test, with presymptomatic testing for at-risk individuals. Clinical exam assesses chorea and cognition (Unified Huntington’s Disease Rating Scale). MRI supports by showing atrophy. Family history is key. In 2025, genetic counseling is mandatory, with AI integrating MRI/genetics for risk assessment.

Sources

The information is sourced from the Huntington’s Disease Society of America’s “Imaging in Huntington’s,” 2025 for how MRI is used; National Institute of Neurological Disorders and Stroke’s “Huntington’s Disease Fact Sheet,” 2025 for condition overview; PMC’s “MRI Biomarkers in Huntington’s Disease,” 2025 for future outlook.