Manifestaciones neuropsiquiátricas y cognitivas en demencia frontotemporal y esclerosis lateral amiotrófica: dos polos de una entidad común

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 national registry of patients with ALS and FTD, to provide an earlier diagnosis and a multidisciplinary care.

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Main Authors: Lillo,Patricia, Matamala,José Manuel, Valenzuela,Daniel, Verdugo,Renato, Castillo,José Luis, Ibáñez,Agustín, Slachevsky,Andrea
Format: Digital revista
Language:Spanish / Castilian
Published: Sociedad Médica de Santiago 2014
Online Access:http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872014000700007
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spelling oai:scielo:S0034-988720140007000072014-12-10Manifestaciones neuropsiquiátricas y cognitivas en demencia frontotemporal y esclerosis lateral amiotrófica: dos polos de una entidad comúnLillo,PatriciaMatamala,José ManuelValenzuela,DanielVerdugo,RenatoCastillo,José LuisIbáñez,AgustínSlachevsky,Andrea Amyothrophic lateral sclerosis Frontotemporal dementia Motor neuron disease 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 national registry of patients with ALS and FTD, to provide an earlier diagnosis and a multidisciplinary care.info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.142 n.7 20142014-07-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872014000700007es10.4067/S0034-98872014000700007
institution SCIELO
collection OJS
country Chile
countrycode CL
component Revista
access En linea
databasecode rev-scielo-cl
tag revista
region America del Sur
libraryname SciELO
language Spanish / Castilian
format Digital
author Lillo,Patricia
Matamala,José Manuel
Valenzuela,Daniel
Verdugo,Renato
Castillo,José Luis
Ibáñez,Agustín
Slachevsky,Andrea
spellingShingle Lillo,Patricia
Matamala,José Manuel
Valenzuela,Daniel
Verdugo,Renato
Castillo,José Luis
Ibáñez,Agustín
Slachevsky,Andrea
Manifestaciones neuropsiquiátricas y cognitivas en demencia frontotemporal y esclerosis lateral amiotrófica: dos polos de una entidad común
author_facet Lillo,Patricia
Matamala,José Manuel
Valenzuela,Daniel
Verdugo,Renato
Castillo,José Luis
Ibáñez,Agustín
Slachevsky,Andrea
author_sort Lillo,Patricia
title Manifestaciones neuropsiquiátricas y cognitivas en demencia frontotemporal y esclerosis lateral amiotrófica: dos polos de una entidad común
title_short Manifestaciones neuropsiquiátricas y cognitivas en demencia frontotemporal y esclerosis lateral amiotrófica: dos polos de una entidad común
title_full Manifestaciones neuropsiquiátricas y cognitivas en demencia frontotemporal y esclerosis lateral amiotrófica: dos polos de una entidad común
title_fullStr Manifestaciones neuropsiquiátricas y cognitivas en demencia frontotemporal y esclerosis lateral amiotrófica: dos polos de una entidad común
title_full_unstemmed Manifestaciones neuropsiquiátricas y cognitivas en demencia frontotemporal y esclerosis lateral amiotrófica: dos polos de una entidad común
title_sort manifestaciones neuropsiquiátricas y cognitivas en demencia frontotemporal y esclerosis lateral amiotrófica: dos polos de una entidad común
description 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 national registry of patients with ALS and FTD, to provide an earlier diagnosis and a multidisciplinary care.
publisher Sociedad Médica de Santiago
publishDate 2014
url http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872014000700007
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