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Correlation between triplet repeat expansion and computed tomography measures of caudate nuclei atrophy in
B Culjkovic1, O Stojkovic, N Vojvodic
1Faculty of Biology, University of Belgrade, Yugoslavia.
Insights
Huntington's disease (HD) patients with early onset showed that the number of CAG repeats directly correlates with caudate atrophy. This suggests expanded CAG repeats are the primary driver of striatal degeneration in HD.
Area of Science:
- Neuroscience
- Genetics
- Neurology
Background:
- Huntington's disease (HD) is a progressive, autosomal dominant neurodegenerative disorder.
- HD is characterized by motor, cognitive, and psychiatric symptoms.
Purpose of the Study:
- To investigate the relationship between CAG trinucleotide repeat length and caudate atrophy in early-onset Huntington's disease patients.
- To assess if CAG repeat size is the primary regulator of striatal degeneration.
Main Methods:
- Retrospective selection of 11 early-onset HD patients (21-30 years) with 5 years disease duration.
- Computed tomography (CT) scans were used to measure the bicaudate index and frontal horn index, assessing caudate atrophy.
- Correlation analysis between CAG repeat number and caudate atrophy indices.
Main Results:
- A significant correlation was found between the number of CAG trinucleotides and both the bicaudate index and frontal horn index.
- These indices reflect caudate atrophy, a key feature of striatal degeneration in HD.
Conclusions:
- The size of expanded CAG repeats is a primary regulator of striatal degeneration in Huntington's disease.
- CT-assessed striatal degeneration in early-onset HD is strongly linked to CAG repeat expansion size.
Abstract:
Huntington's disease (HD) is an autosomal dominant, progressive disorder characterized by choreic movements, cognitive decline, and psychiatric manifestations. Eleven patients with HD were retrospectively selected from a larger group of 42 patients based on the similar, early onset of the disease (between 21 and 30 years) and the same duration of HD at the moment of computed tomography (CT) examination (5 years). A significant correlation between the number of CAG trinucleotides and the bicaudate index or the frontal horn index, two indices of caudate atrophy, was found in this group of patients. Our results, although in a small number of patients, suggest that the striatal degeneration, assessed by CT measures, is primarily regulated by the size of expanded CAG repeats.