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

A special issue of Brain Sciences (ISSN 2076-3425). This special issue belongs to the section "Neurodegenerative Diseases".

Deadline for manuscript submissions: closed (31 March 2023) | Viewed by 479

Special Issue Editors

Department of Neuroscience, Biomedicine and advanced Diagnostics, School of Medicine, University of Palermo, 90133 Palermo, Italy
Interests: neurodegenerative disorders; dementia; cognition; functional connectivity; biomarkers
Special Issues, Collections and Topics in MDPI journals
ALS Clinical Research Center and Laboratory of Neurochemistry, Department of Biomedicine, Neuroscience and Advanced Diagnostics, University of Palermo, 90127 Palermo, Italy
Interests: motor neuron diseases; amyotrophic lateral sclerosis; Alzheimer's disease; multisystem atrophy and parkinsonism, Parkinson's disease prion-like mechanisms in neurodegeneration; biomarkers, pathophysiology and genetic determinants of the neurodegenerative disorders

Special Issue Information

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

Manuscript Submission Information

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

Published Papers

There is no accepted submissions to this special issue at this moment.
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