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Clinical and Translational Research on Amyotrophic Lateral Sclerosis (ALS)
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Clinical and Translational Research on Amyotrophic Lateral Sclerosis (ALS)

A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Clinical Neurology".

Deadline for manuscript submissions: closed (31 July 2020) | Viewed by 18372

Special Issue Editors

Dr. Cristina Cereda

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Guest Editor
IRCCS Mondino Foundation, Genomic and Post Genomic Unit, Pavia, Italy
Interests: molecular mechanisms of neurodegeneration; epigenetic and non-coding RNA; biomarker discovery (extracellular vesicles) and DNA damage responses
Special Issues, Collections and Topics in MDPI journals
Dr. Orietta Pansarasa

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Guest Editor
Cellular Models and Neuroepigenetics Unit-IRCCS Mondino Foundation, 27100 Pavia, Italy
Interests: ALS; biomarker discovery; iPSCs; protein misfolding; extracellular vesicles; RNA metabolism
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder characterized by progressive muscle paralysis determined by motoneuron degeneration in the motor cortex brainstem and spinal cord, causing premature death due to respiratory failure. The mechanisms of ALS pathogenetic are still unclear, despite several studies demonstrating the involvement of altered signaling pathways, such as mitochondrial dysfunction, glutamate excitotoxicity, oxidative stress, and neuroinflammation. Until now, no effective therapy to prevent the development and progression of the disease has existed. Moreover, the lack of any specific biomarker that can help the diagnosis or prognosis of ALS has made the identification of biomarkers a crucial element in ALS studies.

This Special Issue on ALS is aimed at summarizing recent advances in (1) the identification of biomarkers that are able to predict the disease progression and to stratify ALS patients, (2) the development of new in vitro and in vivo experimental models to investigate disease mechanisms, (3) the understanding of specific molecular mechanisms of DNA damage repair pathways and genome instability, and (4) the investigation of mechanisms of epigenetic regulation (DNA methylation, chromatin remodeling, and histone post-translational modifications).

Authors are invited to contribute either original research articles or review articles to this Special Issue.

Dr. Cristina Cereda
Dr Orietta Pansarasa
Guest Editors

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. Journal of Clinical Medicine is an international peer-reviewed open access semimonthly 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 2600 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.

Keywords

  • neurodegeneration
  • in vitro and in vivo disease experimental models
  • DNA damage response
  • genome instability
  • biomarkers
  • epigenetic mechanims

Published Papers (4 papers)

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Research

12 pages, 1056 KiB  
Article
Diagnostic and Prognostic Value of Conventional Brain MRI in the Clinical Work-Up of Patients with Amyotrophic Lateral Sclerosis
by Giovanni Rizzo, Anna Federica Marliani, Stella Battaglia, Luca Albini Riccioli, Silvia De Pasqua, Veria Vacchiano, Rossella Infante, Patrizia Avoni, Vincenzo Donadio, Massimiliano Passaretti, Ilaria Bartolomei, Fabrizio Salvi, Rocco Liguori and on behalf of the BoReALS group
J. Clin. Med. 2020, 9(8), 2538; https://0-doi-org.brum.beds.ac.uk/10.3390/jcm9082538 - 06 Aug 2020
Cited by 14 | Viewed by 7957
Abstract
Clinical signs of upper motor neuron (UMN) involvement are important in the diagnosis of amyotrophic lateral sclerosis (ALS) though are often difficult to analyze. Many studies using both qualitative and quantitative evaluations have reported abnormal Magnetic Resonance Imaging (MRI) findings at the level [...] Read more.
Clinical signs of upper motor neuron (UMN) involvement are important in the diagnosis of amyotrophic lateral sclerosis (ALS) though are often difficult to analyze. Many studies using both qualitative and quantitative evaluations have reported abnormal Magnetic Resonance Imaging (MRI) findings at the level of the pyramidal pathway in patients with ALS. Although the most interesting results were obtained by quantitative studies using advanced MR techniques, the qualitative evaluation of MRI images remains the most-used in clinical practice. We evaluated the diagnostic and prognostic contribution of conventional 3T-MRI in the clinical work-up of ALS patients. Two neuroradiologists retrospectively assessed 3T-MRI data of 93 ALS patients and 89 controls. The features of interest were corticospinal tract (CST) T2/FLAIR hyperintensity, motor cortex (MC) T2*/SWI hypointensity, and selective MC atrophy. All MRI features were significantly more prevalent in ALS patients than in controls. The simultaneous presence of CST FLAIR hyperintensity and MC SWI hypointensity was associated with the highest diagnostic accuracy (sensitivity: 70%; specificity: 81%; positive predictive value, PPV: 90%; negative predictive value, NPV: 51%; accuracy: 73%) and a shorter survival (HR: 6.56, p = 0.002). Conventional 3T-MRI can be a feasible tool to detect specific qualitative changes based on UMN involvement and to support clinical diagnosis of ALS. Importantly, CST FLAIR hyperintensity and MC SWI hypointensity are predictors of shorter survival in ALS patients. Full article
(This article belongs to the Special Issue Clinical and Translational Research on Amyotrophic Lateral Sclerosis (ALS))
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11 pages, 2571 KiB  
Article
Effects of Biofeedback Training on Esophageal Peristalsis in Amyotrophic Lateral Sclerosis Patients with Dysphagia
by Jerzy Tomik, Klaudia Sowula, Piotr Ceranowicz, Mateusz Dworak and Kamila Stolcman
J. Clin. Med. 2020, 9(7), 2314; https://0-doi-org.brum.beds.ac.uk/10.3390/jcm9072314 - 21 Jul 2020
Cited by 3 | Viewed by 2156
Abstract
Esophageal manometry (EM) could serve as an objective method for the detection of esophageal peristalsis in patients with amyotrophic lateral sclerosis (ALS). In this group of patients, biofeedback training (BT) using the EM procedure is a promising method for the rehabilitation of swallowing [...] Read more.
Esophageal manometry (EM) could serve as an objective method for the detection of esophageal peristalsis in patients with amyotrophic lateral sclerosis (ALS). In this group of patients, biofeedback training (BT) using the EM procedure is a promising method for the rehabilitation of swallowing function. A total of 20 ALS patients with clinical evidence of dysphagia and who met WFN criteria were recruited for this study. The standard transnasal EM with solid-state transducers was performed, and swallows with water and saliva were initiated in all subjects and repeated at 30-s intervals. The median upper esophageal contractile amplitude, duration, and velocity results during the wet and dry swallows were evaluated and compared in both the ALS and the control groups. In ALS patients, in contrast to the control, significant abnormalities in all EM parameters were recorded, which implies a specific pattern of esophageal peristalsis. Twelve months after BT, the body mass index (BMI) of ALS patients who underwent BT (ALSBT) was compared to the BMI of those who did not (ALS1)—compared to the ALS1 group, ALSBT patients showed a slightly smaller drop in BMI value. We presume that BT using EM can be a promising tool for the improvement of the swallowing mechanism in ALS patients. Full article
(This article belongs to the Special Issue Clinical and Translational Research on Amyotrophic Lateral Sclerosis (ALS))
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6 pages, 831 KiB  
Article
MRI Study of Paraspinal Muscles in Patients with Amyotrophic Lateral Sclerosis (ALS)
by Luca Diamanti, Matteo Paoletti, Umberto Di Vita, Shaun Ivan Muzic, Cristina Cereda, Elena Ballante and Anna Pichiecchio
J. Clin. Med. 2020, 9(4), 934; https://0-doi-org.brum.beds.ac.uk/10.3390/jcm9040934 - 28 Mar 2020
Cited by 2 | Viewed by 3149
Abstract
Background: the study of paraspinal muscles is pivotal for the diagnosis and staging of Amyotrophic Lateral Sclerosis (ALS), and is usually performed by electromyography. Objective: to evaluate the role of paraspinal muscle MRI as a diagnostic biomarker in ALS. Methods: we evaluated T1-w [...] Read more.
Background: the study of paraspinal muscles is pivotal for the diagnosis and staging of Amyotrophic Lateral Sclerosis (ALS), and is usually performed by electromyography. Objective: to evaluate the role of paraspinal muscle MRI as a diagnostic biomarker in ALS. Methods: we evaluated T1-w images of newly diagnosed ALS patients (n = 14), age-matched healthy controls (n = 11), patients affected by inflammatory myopathy (n = 10), and lumbar radiculopathy (n = 19), and compared them semiquantitatively by using the Mercuri Scale. Results: a significant difference in the appearance of the psoas muscle was observed between ALS patients and patients with radiculopathy (p = 0.003); after stratifying ALS patients into spinal and bulbar onsets, we found a significant difference in the appearance of the longissimus dorsi muscle between the spinal onset ALS subgroup and bulbar onset ALS subgroup (p = 0.0245), while no difference was found for multifidus (p = 0.1441), iliocostal (p = 0.0655), and psoas muscles (p = 0.0813) between the cohort subgroups. Conclusions: paraspinal T1-w MRI could help to distinguish spinal ALS patients from healthy and pathological controls. Specifically, the study of longissimus dorsi could play the role of a diagnostic ALS biomarker. Full article
(This article belongs to the Special Issue Clinical and Translational Research on Amyotrophic Lateral Sclerosis (ALS))
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18 pages, 395 KiB  
Article
Sorting Rare ALS Genetic Variants by Targeted Re-Sequencing Panel in Italian Patients: OPTN, VCP, and SQSTM1 Variants Account for 3% of Rare Genetic Forms
by Viviana Pensato, Stefania Magri, Eleonora Dalla Bella, Pierpaola Tannorella, Enrica Bersano, Gianni Sorarù, Marta Gatti, Nicola Ticozzi, Franco Taroni, Giuseppe Lauria, Caterina Mariotti and Cinzia Gellera
J. Clin. Med. 2020, 9(2), 412; https://0-doi-org.brum.beds.ac.uk/10.3390/jcm9020412 - 03 Feb 2020
Cited by 23 | Viewed by 4570
Abstract
Amyotrophic lateral sclerosis (ALS) is an adult-onset progressive neurodegenerative disease due to motor neuron loss variably associated with frontotemporal dementia (FTD). Next generation sequencing technology revealed an increasing number of rare and novel genetic variants and interpretation of their pathogenicity represents a major [...] Read more.
Amyotrophic lateral sclerosis (ALS) is an adult-onset progressive neurodegenerative disease due to motor neuron loss variably associated with frontotemporal dementia (FTD). Next generation sequencing technology revealed an increasing number of rare and novel genetic variants and interpretation of their pathogenicity represents a major challange in the diagnosis of ALS. We selected 213 consecutive patients with sporadic or familial (16%) ALS, tested negative for SOD1, FUS, TARDBP, and C9orf72 mutations. To reveal rare forms of genetic ALS, we performed a comprehensive multi-gene panel screening including 46 genes associated with ALS, hereditary motor neuronopathies, spastic paraplegia, and FTD. Our study allowed the identification of pathogenic or likely pathogenic variants in 4.2% of patients. The genes with the highest percentage of pathogenic variants were OPTN (1%), VCP (1%) SQSTM1(1%), SETX (0.4%), FIG4 (0.4%), and GARS1 (0.4%) genes. We also found 49 novel or rare gene variants of unknown significance in 30 patients (14%), 44 unlikely pathogenic variants (39%), and 48 variants in ALS susceptibility genes. The results of our study suggest the screening of OPTN, VCP, and SQSTM1 genes in routine diagnostic investigations for both sporadic and familial cases, and confirm the importance of diagnosis and couselling for patients and their relative family members. Full article
(This article belongs to the Special Issue Clinical and Translational Research on Amyotrophic Lateral Sclerosis (ALS))
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