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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
Interests: neurodegenerative disorders; dementia; cognition; functional connectivity; biomarkers
Special Issues, Collections and Topics in MDPI journals
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
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
Manuscript Submission Information
Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.
Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Brain Sciences is an international peer-reviewed open access monthly journal published by MDPI.
Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2000 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.
- amyotrophic lateral sclerosis
- frontotemporal dementia
- clinical features