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Which diagnostic procedures in the elderly? The case of late-onset Huntington's disease
I Appollonio1, G B Frisoni, N Curtò
15th Neurological Department, Medical School, University of Milan, San Gerardo Hospital, Monza, Italy.
Insights
Late-onset Huntington's disease (HD) is often misdiagnosed due to subtle symptoms. Genetic testing is crucial for accurate diagnosis when neuroimaging is insufficient.
Area of Science:
- Neurology
- Genetics
- Geriatrics
Background:
- Huntington's disease (HD) typically presents in adulthood, with established diagnostic guidelines.
- The late-onset variant of HD is less common and presents diagnostic challenges.
- Guidelines for diagnosing late-onset HD are less clear than for the typical form.
Observation:
- Three patients in their late sixties with late-onset HD were misdiagnosed for up to a decade.
- Misdiagnosis stemmed from slowly progressive, mild hyperkinetic movements and cognitive issues.
- Neuroimaging studies showed insufficient sensitivity and specificity for diagnosis.
Findings:
- DNA sequencing of blood samples confirmed late-onset HD in all three patients.
- Genetic testing proved more effective than neuroimaging for diagnosis.
- Late-onset HD diagnosis requires specific neurogeriatric assessment protocols.
Implications:
- Highlights the need for increased awareness of late-onset HD in geriatric populations.
- Emphasizes the critical role of genetic testing in diagnosing atypical HD presentations.
- Suggests developing specific diagnostic guidelines for late-onset HD, incorporating advanced genetic and neurogeriatric assessments.
Abstract:
The typical adult-onset form of Huntington's disease (HD) is a clinical condition in which the latest advances of genetic research can be usefully applied during the course of the diagnostic process; not so clear are the guidelines for the much less frequent late-onset variant. We have recently seen three patients in their late sixties who had been misdiagnosed for up to 10 years due to the apparently isolated, mild, and slowly progressive nature of their hyperkinetic movements or cognitive disorders. Only after the results of DNA sequencing on a blood sample became available could the appropriate diagnosis of late-onset HD be reached. By contrast, neuroimaging studies lacked sufficient sensitivity and specificity. Appropriate neurogeriatric assessment in these cases should follow specific guidelines and should always include selected high-technology procedures.