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Machado-Joseph Disease

New Machado-Joseph disease study findings reported from University do Porto

Published in Genetics and Environmental Health Week, November 14th, 2007

New research, 'Asian origin for the worldwide-spread mutational event in Machado-Joseph disease,' is the subject of a report. According to recent research published in the journal Archives of Neurology, "Machado-Joseph disease is the most frequent dominant ataxia worldwide. Despite its frequency and presence in many populations, only 2 founder mutations have been suggested to explain its current geographic distribution To trace back in history the main mutational events in Machado-Joseph disease, we aimed to assess ancestral haplotypes and population backgrounds, to date the mutations, and to trace the routes and time of introduction of the founder haplotypes in different...

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