Making connections: pathology and genetics link amyotrophic lateral sclerosis with frontotemporal lobe dementia

J Mol Neurosci. 2011 Nov;45(3):663-75. doi: 10.1007/s12031-011-9637-9. Epub 2011 Sep 7.

Abstract

Over the last couple of decades, there has been a growing body of clinical, genetic, and histopathological evidence that similar pathological processes underlie amyotrophic lateral sclerosis (ALS) and some types of frontotemporal lobe dementia (FTD). Even though there is great diversity in the genetic causes of these disorders, there is a high degree of overlap in their histopathology. Genes linked to rare cases of familial ALS and/or FTD, like FUS, TARDBP, OPTN, and UBQLN2 may converge onto a unifying pathogenic pathway and thereby provide novel therapeutic targets common to a spectrum of etiologically diverse forms of ALS and ALS-FTD. Additionally, there are major loci for ALS-FTD on chromosomes 9p and 15q. Identification of causative genetic alterations at those loci will be an important step in understanding the pathogenesis of juvenile- and adult-onset ALS and ALS-FTD. Interactions between TDP-43, FUS, optineurin, and ubiquilin 2 need to be studied to understand their common molecular pathways. Future efforts should also be directed towards generation and characterization of in vivo models to dissect the pathogenic mechanisms of these diseases. Such efforts will rapidly accelerate the discovery of new drugs that regulate accumulation of pathogenic proteins and their downstream consequences.

Publication types

  • Review

MeSH terms

  • Adaptor Proteins, Signal Transducing
  • Age of Onset
  • Amyotrophic Lateral Sclerosis / genetics*
  • Amyotrophic Lateral Sclerosis / pathology*
  • Amyotrophic Lateral Sclerosis / physiopathology
  • Autophagy-Related Proteins
  • Cell Cycle Proteins / genetics
  • DNA-Binding Proteins / genetics
  • Frontotemporal Dementia / genetics*
  • Frontotemporal Dementia / pathology*
  • Frontotemporal Dementia / physiopathology
  • Genetic Predisposition to Disease
  • Humans
  • Membrane Transport Proteins
  • Motor Neurons / pathology
  • Pedigree
  • Phenotype
  • RNA-Binding Protein FUS / genetics
  • Transcription Factor TFIIIA / genetics
  • Ubiquitins / genetics

Substances

  • Adaptor Proteins, Signal Transducing
  • Autophagy-Related Proteins
  • Cell Cycle Proteins
  • DNA-Binding Proteins
  • Membrane Transport Proteins
  • OPTN protein, human
  • RNA-Binding Protein FUS
  • Transcription Factor TFIIIA
  • UBQLN2 protein, human
  • Ubiquitins