I discuss issues pertaining to the practice of neuropathology -- including nervous system tumors, neuroanatomy, neurodegenerative disease, muscle and nerve disorders, ophthalmologic pathology, neuro trivia, neuropathology gossip, job listings and anything else that might be of interest to a blue-collar neuropathologist.
Wednesday, July 20, 2011
Genetics of PSP further elucidated
Actor Dudley Moore died in 2002 with PSP
About 20,000 people in the United States are currently diagnosed with Progressive Supranuclear Palsy (PSP). A variant in the MAPT gene, has been repeatedly linked to the disease. Researchers led by Gunter Höglinger of Philipps-Universitat in Germany studied more than 2,000 individuals of European descent diagnosed with PSP, comparing their DNA to that of nearly 7,000 healthy European individuals. The results were published last month in the journal Nature Genetics. The study reported several single nucleotide polymorphisms (SNPs) associated with the disease. One of the SNPs reported by Höglinger’s team is located in MAPT and is closely linked to the already well-established variant for PSP risk. In this study, each copy of the G version of rs8070723 in MAPT was associated with about 5.5 times lower odds of the disease. (Source: spittoon.23andme.com)