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
Traynor BJ, Abramzon YA. To Dement or Not to Dement, That Is the Question. JAMA Neurol. 2016;73(4):383–384. doi:10.1001/jamaneurol.2015.4984
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