Alexander Disease Genetics
Investigators at G. Gaslini Institute zero in on Alexander disease genetics
Published in Genetics and Environmental Law Weekly, November 24th, 2007
Scientists discuss in 'GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease' new findings in Alexander disease. "Alexander disease (AD), a rare neurodegenerative disorder of the central nervous system, is characterized by the accumulation of cytoplasmic protein aggregates (Rosenthal fibers) composed of glial fibrillary acidic protein (GFAP) and small heat-shock proteins within astrocytes. To date, more than 40 different GFAP mutations have been reported in AD," scientists in Genoa, Italy report.
"The present study is aimed at the molecular diagnosis of Italian patients suspected to be affected by AD. By analyzing the GFAP gene...
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