Tidsskrift for den Norske lægeforening : tidsskrift for praktisk medicin, ny række
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Tidsskr. Nor. Laegeforen. · Feb 2014
Review[Genetic coherence between hereditary amyotrophic lateral sclerosis and frontotemporal dementia].
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. ⋯ 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.