GRN Mutations Are Associated with Lewy Body Dementia
Sign Up to like & getrecommendations! Published in 2022 at "Movement Disorders"
DOI: 10.1002/mds.29144
Abstract: Loss‐of‐function mutations in GRN are a cause of familial frontotemporal dementia, and common variants within the gene have been associated with an increased risk of developing Alzheimer's disease and Parkinson's disease. Although TDP‐43‐positive inclusions are… read more here.
Keywords: associated lewy; mutations associated; grn mutations; lewy body ... See more keywords
NEK1 and GRN mutations coexist in a sporadic Chinese Hui descent ALS patient
Sign Up to like & getrecommendations! Published in 2020 at "Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration"
DOI: 10.1080/21678421.2020.1779301
Abstract: Abstract We describe a sporadic amyotrophic lateral sclerosis (ALS) patient who presented rapid progress of muscle weakness and died of respiratory failure one and a half years after onset. Genetic analysis revealed a novel ALS-causing… read more here.
Keywords: mutations coexist; nek1 grn; grn mutations; sporadic chinese ... See more keywords
FTLD-TDP With and Without GRN Mutations Cause Different Patterns of CA1 Pathology.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of neuropathology and experimental neurology"
DOI: 10.1093/jnen/nlz059
Abstract: Heterozygous loss-of-function mutations in the GRN gene lead to progranulin (PGRN) haploinsufficiency and cause frontotemporal lobar degeneration with TDP-43 pathology type A (FTLD-TDP type A). PGRN is a highly conserved, secreted glycoprotein and functions in… read more here.
Keywords: grn mutations; ftld tdp; type; pathology ... See more keywords