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Revista médica de Chile

versão impressa ISSN 0034-9887


LILLO, Patricia et al. Overlapping features of frontotemporal dementia and amyotrophic lateral sclerosis. Rev. méd. Chile [online]. 2014, vol.142, n.7, pp.867-879. ISSN 0034-9887.

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.

Palavras-chave : Amyothrophic lateral sclerosis; Frontotemporal dementia; Motor neuron disease.

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