title: [Genetic coherence between hereditary amyotrophic lateral sclerosis and frontotemporal dementia].
abstract: BACKGROUND
  Amyotrophic lateral sclerosis (ALS) has traditionally been considered purely as a motor condition with a progressive loss of upper and lower motor neurons, and without cognitive or behavioural impairment. In 2011 a new genetic mutation that may cause both ALS and frontotemporal dementia (FTD) was detected. In light of this discovery, the article describes genetic and clinical characteristics of ALS and frontotemporal dementia.
  
  
  METHODS
  The article is based on a literature search in PubMed.
  
  
  RESULTS
  Up to 50% of ALS patients develop some cognitive impairment, while 3-15% develop frontotemporal dementia. The recently discovered C9ORF72 mutation accounts for 20-50% of hereditary ALS and possibly up to 25% of sporadic cases. The mutation is the most common cause of ALS. Patients with C9ORF72 mutation are characterised by earlier disease onset, reduced survival after diagnosis, more frequent cognitive and behavioural dysfunction, and familial disposition for ALS and frontotemporal dementia.
  
  
  CONCLUSIONS
  Cognitive and behavioural changes in amyotrophic lateral sclerosis are common, and can appear along a clinical continuum with development of frontotemporal dementia over time. Detection of the C9ORF72 mutation poses a challenge to our knowledge and management of patients with both hereditary and sporadic ALS.
authors: Kristian Varden
authors: KV
authors: Gjerde
authors: Ole-Bjørn
authors: OB
authors: Tysnes
mesh_terms: D017668:Age of Onset; D000690:Amyotrophic Lateral Sclerosis / Q000150:complications / Q000453:epidemiology / Q000235:genetics*; D000073885:C9orf72 Protein; D003072:Cognition Disorders / Q000209:etiology; D057180:Frontotemporal Dementia / Q000150:complications / Q000453:epidemiology / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D009154:Mutation; D011506:Proteins / Q000235:genetics*; D015996:Survival Rate
chemical_list: D000073885:C9orf72 Protein; C568651:C9orf72 protein, human; D011506:Proteins