Article
Effect of TMEM106B polymorphism on functional network connectivity in asymptomatic GRN mutation carriers.
JAMA neurology - 1 Feb 2014
Premi Enrico, Formenti Anna, Gazzina Stefano, Archetti Silvana, Gasparotti Roberto, Padovani Alessandro, Borroni Barbara
Abstract excerpt
IMPORTANCE: Granulin (GRN) mutations represent one of the most frequent genetic causes of inherited frontotemporal dementia. The study of asymptomatic carriers of GRN Thr272fs mutation (aGRN+) provides a unique opportunity to study the natural history of the disease and the role of modulating factors on disease onset. It has been demonstrated that the TMEM106B polymorphism is associated with GRN-related...
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