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April 2016

To Dement or Not to Dement, That Is the Question

Author Affiliations
  • 1Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland
  • 2Department of Neurology, Brain Sciences Institute, Johns Hopkins University, Baltimore, Maryland
  • 3Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neurology, London, United Kingdom
JAMA Neurol. 2016;73(4):383-384. doi:10.1001/jamaneurol.2015.4984

Until a decade ago, amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) were considered to be distinct neurodegenerative conditions: one was clinically characterized by paralysis and the other by cognitive dysfunction. Epidemiologic, clinical, and neuropathologic data now make it clear that the 2 conditions form a spectrum of disease.1,2 Genetic studies have played a central role in determining the cellular mechanisms underlying the overlap of ALS and FTD. In particular, the pathogenic repeat expansion in the C9ORF72 (Entrez GeneID: 203228) gene was found to account for a large percentage of cases of ALS-FTD.3,4