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A Rare PSEN1 (Leu85Pro) Mutation Causing Alzheimer's Disease in a 29-Year-Old Woman Presenting as Corticobasal Syndrome

Abstract: Dementia is not just a disease of old age. Early-onset dementia affects people younger than 65 and its differential diagnosis is broader than in older people. Nevertheless, although young people are considerably more liable to develop a rare form of dementia, Alzheimer's disease (AD) remains the most common diagnosis. The aim of this article is to report on an early-onset AD patient associated with the rare pathogenic variant PSEN1 (Leu85Pro) presenting as a possible corticobasal syndrome with asymmetric limb apraxia, parkinsonian signs, and myoclonus.

 Fuente: J Alzheimers Dis . 2019;70(3):655-658

 Editorial: IOS Press

 Año de publicación: 2019

 Nº de páginas: 4

 Tipo de publicación: Artículo de Revista

 DOI: 10.3233/JAD-190107

 ISSN: 1387-2877,1875-8908

 Url de la publicación: https://www.doi.org/10.3233/JAD-190107

Autoría

LÓPEZ GARCÍA, SARA

JIMÉNEZ BONILLA, JULIO

LÓPEZ DELGADO, ANJANA

ORIZAOLA BALAGUER, PEDRO

BANZO MARRACO, IGNACIO

RODRÍGUEZ RODRÍGUEZ, ELOY

PASCUAL SANCHEZ JUAN