Intrafamilial variable phenotype including corticobasal syndrome in a family with p.P301L mutation in the MAPT gene: first report in South America

GATTO EMILIA M; ALLEGRI RICARDO FRANCISCO; DA PRAT GUSTAVO; CHREM MENDEZ PATRICIO; HANNA DAVID S; DORSCHNER MICHAEL O; SURACE EZEQUIEL I; ZABETIAN CYRUS P; MATA IGNACIO F

NEUROBIOLOGY OF AGING

ELSEVIER SCIENCE INC

Lugar: Amsterdam; Año: 2017 vol. 53 p. 11 - 17

0197-4580

FTD is a neuropathological disorder that causes a variety of clinical syndromes including FTdementia, progressive supranuclear palsy , and corticobasal syndrome. FTD associated with parkinsonism occurs frequently as result ofd mutations in the C9orf72 gene and also in the gene coding for the protein associated with microtubule tau (MAPT) and progranulin (GRN) on chromosome 17. Herein we report an Argentinean family of Basque ancestry with an extensive family history of behavioral variant of FTD with the p.P301L-MAPT mutation, the first in south america.