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Characteristics of frontotemporal dementia patients with a Progranulin mutation
Author(s) -
Huey Edward D.,
Grafman Jordan,
Wassermann Eric M.,
Pietrini Pietro,
Tierney Michael C.,
Ghetti Bernardino,
Spina Salvatore,
Baker Matt,
Hutton Mike,
Elder Joshua W.,
Berger Stephen L.,
Heflin Kyle A.,
Hardy John,
Momeni Parastoo
Publication year - 2006
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.20969
Subject(s) - frontotemporal dementia , missense mutation , neuropathology , dementia , mutation , atrophy , magnetic resonance imaging , medicine , pathology , genetics , disease , biology , gene , radiology
Mutations in the Progranulin gene (PGRN) recently have been discovered to be associated with frontotemporal dementia (FTD) linked to 17q21 without identified MAPT mutations. The range of mutations of PGRN that can result in the FTD phenotype and the clinical presentation of patients with PGRN mutations have yet to be determined.