CAG repeat number correlates with the rate of brainstem and cerebellar atrophy in Machado-Joseph disease.
cross_sectional · Level IV
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Abstract
We compared the CAG repeat length and the severity of the brainstem and cerebellar atrophy visualized by MRI in 30 patients with Machado-Joseph disease. We found a strong correlation between the CAG repeat number and the quotient of the degree of atrophy divided by age at examination. These results suggest that the rate of disease progression is dependent on the CAG repeat size and disease progression may commence at birth.
Medical subject headings
- Brain Stem
- Cerebellum
- Machado-Joseph Disease
- Trinucleotide Repeats