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It is caused by unstable expansion of the CAG repeat in the <jats:italic>MJD1<\/jats:italic> gene on chromosome 14q32.1. To determine how the neurodegenerative process in the central nervous system of patients with MJD correlates with the size of expanded CAG repeats in the <jats:italic>MJD1<\/jats:italic> gene and other factors, we performed detailed quantitative analyses of findings of magnetic resonance imaging of the central nervous system of 21 patients with MJD of various ages and with various sizes of expanded CAG repeats. We found that atrophy of the brainstem and cerebellar vermis in MJD patients is closely correlated not only with the size of expanded CAG repeat in the <jats:italic>MJD1<\/jats:italic> gene but also with patient age, which suggests that the neurodegenerative process in MJD is regulated by the size of expanded CAG repeats as well as by the patient age.<\/jats:p>","DOI":"10.1002\/ana.410430305","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T15:15:16Z","timestamp":1104592516000},"page":"288-296","source":"Crossref","is-referenced-by-count":55,"title":["Progressive atrophy of cerebellum and brainstem as a function of age and the size of the expanded CAG repeats in the <i>MJD1<\/i> gene in Machado\u2010Joseph 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