Artículos de revistas
Overlapping features of frontotemporal dementia and amyotrophic lateral sclerosis Manifestaciones neuropsiquiátricas y cognitivas en demencia frontotemporal y esclerosis lateral amiotrófica: Dos polos de una entidad común
Fecha
2014Registro en:
Revista Medica de Chile, Volumen 142, Issue 7, 2018, Pages 867-879
07176163
00349887
10.4067/S0034-98872014000700007
Autor
Lillo, Patricia
Matamala, José Manuel
Valenzuela, Daniel
Verdugo Latorre, Renato
Castillo, José Luis
Ibáñez, Agustín
Slachevsky Chonchol, Andrea
Gómez García, Daniela Francisca
Institución
Resumen
© 2014, Sociedad Medica de Santiago. All rights reserved.Recent genetic and neuropathologic advances support the concept that frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are overlapping multisystem disorders. While 10-15% of ALS patients fulfil criteria for FTD, features of motor neuron disease appear in approximately 15% of FTD patients, during the evolution of the disease. This overlap has been reinforced by the discovery of Transactive Response DNA Binding Protein 43 kDa (TDP43) inclusions as the main neuropathologic finding in the majority of ALS cases and almost a half of FTD cases. Also, an expansion in the intron of C9ORF72 (chromosome 9p21) has been identified in families affected by ALS, ALS-FTD and FTD. This review provides an update on the recent genetic and neuropathologic findings of ALS and FTD and a characterization of their clinical presentation forms, based on the current diagnostic criteria. Finally it underscores the importance of having a n