Dysregulated Molecular Pathways in Amyotrophic Lateral Sclerosis-frontotemporal Dementia Spectrum Disorder

Overview

Journal EMBO J

Specialties Biotechnology
Molecular Biology

Date 2017 Sep 17

PMID 28916614

Citations 107

Authors

Fen-Biao Gao

Sandra Almeida

Rodrigo Lopez-Gonzalez

Affiliations

Soon will be listed here.

Abstract

Frontotemporal dementia (FTD), the second most common form of dementia in people under 65 years of age, is characterized by progressive atrophy of the frontal and/or temporal lobes. FTD overlaps extensively with the motor neuron disease amyotrophic lateral sclerosis (ALS), especially at the genetic level. Both FTD and ALS can be caused by many mutations in the same set of genes; the most prevalent of these mutations is a GGGGCC repeat expansion in the first intron of As shown by recent intensive studies, some key cellular pathways are dysregulated in the ALS-FTD spectrum disorder, including autophagy, nucleocytoplasmic transport, DNA damage repair, pre-mRNA splicing, stress granule dynamics, and others. These exciting advances reveal the complexity of the pathogenic mechanisms of FTD and ALS and suggest promising molecular targets for future therapeutic interventions in these devastating disorders.

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