rs5848 polymorphism and serum progranulin level.

  title={rs5848 polymorphism and serum progranulin level.},
  author={Ging-Yuek R Hsiung and Alice Fok and Howard H. Feldman and Rosa Rademakers and Ian R. A. Mackenzie},
  journal={Journal of the neurological sciences},
  volume={300 1-2},
OBJECTIVE To assess the influence of rs5848 polymorphism in serum progranulin (PGRN) level in a cohort of subjects with Alzheimer and related dementias from a tertiary referral clinic. BACKGROUND Mutations in the GRN gene cause autosomal dominant frontotemporal dementia (FTD) with TDP-43 pathology (FTLD-TDP) through haploinsufficiency. It has recently been shown that homozygous carriers of the T allele of rs5848 have an elevated risk of developing FTD, and this polymorphism may play a role in… CONTINUE READING