Special Issue "Clinical, Genetic and Molecular Determinants of the FTD-ALS Spectrum Disorder"

Dear Colleagues,

Growing evidence from clinical, pathological, and genetic findings suggests that frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are the extremes of a spectrum in which the two neurodegenerative diseases overlap at different degrees. Several studies have demonstrated TDP-43- and FUS-containing inclusions in FTD and ALS, suggesting a genetic and molecular link between the two diseases. Still, the real breakthrough was finding a pathogenic sextuplet GGGGCC abnormal expansion in the first intron of C9ORF72, a causative genetic determinant of ALS, FTD and the ALS-FTD complex. Up to 50–70% of patients with familiar frontotemporal dementia-motor neuron disease carry C9orf72 expansion, while other genes (e.g., VCP, SQSTM1, OPTN, UBQLN2, TBK1, CCNF, and TIA1) rarely link the two diseases. Clinical features were also extensively studied: more than 20–40% of ALS patients show cognitive deficits, and 5–10% of ALS patients are diagnosed with concomitant FTD. Moreover, 12.5–14% of patients with FTD have concomitant motor neuron disease (MND), and 27–36% have clinical evidence of motor system dysfunction. Nevertheless, clinical, behavioral, and neuroanatomical heterogeneity in the spectrum of ALS–FTD disease remains high, and knowledge of these variables will be critical in the future for improved diagnostic and therapeutic accuracy.

This Special Issue is intended to collect original research of ALS-FTD spectrum disorder to further clarify the etiopathogenetic and pathophysiologic link between the two diseases.

Dr. Tommaso Piccoli
Dr. Vincenzo La Bella
Guest Editors

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• amyotrophic lateral sclerosis
• frontotemporal dementia
• genetics
• clinical features
• progression