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P3‐279: A novel progranulin mutation in a large frontotemporal dementia calabrian kindred
Author(s) -
Frangipane Francesca,
Colao Rosanna,
Mirabelli Maria,
Puccio Gianfranco,
Bernardi Livia,
Tomaino Carmine,
Anfossi Maria,
Gallo Maura,
Geracitano Silvana,
Maletta Raffaele,
Smirne Nicoletta,
Elder Joshua,
Kawarai Toshitaka,
Sato Christine,
Pradella Silvia,
Wakutani Yosuke,
Kertesz Andrew,
St. George Hyslop Peter,
Hardy John,
Rogaeva Ekaterina,
Momeni Parastoo,
Bruni Amalia Cecilia
Publication year - 2008
Publication title -
alzheimer's and dementia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 6.713
H-Index - 118
eISSN - 1552-5279
pISSN - 1552-5260
DOI - 10.1016/j.jalz.2008.05.1847
Subject(s) - phenocopy , frontotemporal dementia , genetics , proband , mutation , biology , haplotype , allele , dementia , gene , disease , medicine , phenotype
mutation is pathogenic. Both the insertionand deletion-mutations result in a frameshift and premature stop codon. Previous reports suggest that this leads to nonsense mediated RNA decay of the transcripts and thus haploinsufficiency. We will further investigate the effect of the mutations by protein and RNA studies as well as immunohistochemical studies of brain tissue. The finding of mutations in the GRN gene in FTD patients can help us understand how FTD develops and to develop treatments for the disease.