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Huntington's disease: pathogenesis, diagnosis and treatment
S E Purdon1, E Mohr, V Ilivitsky
1Department of Psychology and Psychiatry, University of Alberta, Alberta Hospital, Edmonton.
Journal of Psychiatry & Neuroscience : JPN
|November 1, 1994
Summary
This review covers Huntington's disease (HD) clinical features, pathophysiology, and diagnosis. While treatments are limited, advances in genetic testing and potential future therapies offer hope for managing this neurodegenerative disorder.
Area of Science:
- Neuroscience
- Genetics
- Clinical Medicine
Background:
- Huntington's disease (HD) is a progressive neurodegenerative disorder with unknown initiating mechanisms.
- The relationship between neuroanatomical damage and functional disability in HD is not fully understood.
- Current treatments for HD are primarily palliative, focusing on symptom management.
Purpose of the Study:
- To review the clinical features of Huntington's disease.
- To incorporate recent developments in pathophysiology, preclinical diagnosis, and treatment.
- To highlight future research directions and potential therapeutic strategies.
Main Methods:
- Review of current literature on Huntington's disease.
- Analysis of recent advancements in understanding disease mechanisms.
- Evaluation of diagnostic and therapeutic approaches.
Main Results:
- Excitatory neurotoxin and energy metabolism models may guide future research into HD pathophysiology.
- Neural connection models suggest important brain-behavior associations in HD.
- Advances in preclinical diagnosis, including genetic testing, have improved reliability.
Conclusions:
- Preclinical diagnosis of Huntington's disease has advanced significantly, driven by gene isolation.
- Genetic counseling and ethical considerations are crucial due to genetic testing advancements.
- While experimental therapies have shown limited success, NMDA antagonism and neural cell grafting present future possibilities.