FTD and ALS: genetic ties that bind

Neuron. 2011 Oct 20;72(2):189-90. doi: 10.1016/j.neuron.2011.10.001.

Abstract

Curiously, amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), seemingly disparate neurodegenerative disorders, can be inherited together. Two groups (DeJesus-Hernandez et al. and Renton et al.) show that the long sought after ALS/FTD mutation on chromosomal region 9p is a hexanucleotide expansion in C90RF72. These studies, plus a study on X-linked ALS/FTD, provide molecular starting points for identifying pathways that link ALS and FTD pathogenesis.

Publication types

  • Comment

MeSH terms

  • Amyotrophic Lateral Sclerosis / genetics*
  • C9orf72 Protein
  • Chromosomes, Human, Pair 9*
  • DNA Repeat Expansion*
  • Female
  • Frontotemporal Dementia / genetics*
  • Humans
  • Male
  • Microsatellite Repeats*
  • Proteins / genetics*

Substances

  • C9orf72 Protein
  • C9orf72 protein, human
  • Proteins