Review
Biochemistry & Molecular Biology
Elena Obrador, Rosario Salvador-Palmer, Rafael Lopez-Blanch, Ryan W. Dellinger, Jose M. Estrela
Summary: ALS is a degenerative disease with no cure or proven therapy. While some drugs have been approved for treatment, there has been no significant breakthrough in the field.
Review
Biochemistry & Molecular Biology
Katarina Maksimovic, Mohieldin Youssef, Justin You, Hoon-Ki Sung, Jeehye Park
Summary: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that affects motor neurons, leading to muscle weakness, paralysis, and eventual death. Recent research has shown that ALS is not only limited to motor neurons, but also involves systemic metabolic dysfunction. This review examines the metabolic dysfunction in ALS at various levels, including muscle tissue, adipose tissue, liver, pancreas, and the central nervous system. It also discusses the future prospects of metabolic research in ALS and potential treatment options.
Review
Clinical Neurology
Georgiana Soares Leandro, Mario Emilio Teixeira Dourado Junior, Glauciane Costa Santana, Luan Samy Xavier Dantas
Summary: The main coping strategy used by ALS patients is seeking social support, while Confrontive coping and Distancing are less commonly mentioned. The coping strategies of ALS patients do not seem to focus on emotions or stress-triggering problems, and age and gender do not modify the chosen strategy.
JOURNAL OF NEUROLOGY
(2022)
Review
Clinical Neurology
Christina N. Fournier
Summary: Thoughtful clinical trial design and the use of statistical enrichment techniques are crucial for efficient therapeutic development in ALS research. Further advancements in biomarker development are needed to confirm target engagement in treatment trials. Involving patients with ALS as advisors and advocates can strengthen clinical trial design and retention. Respect for patient autonomy and improving access to experimental treatments are important challenges in ALS therapeutic development.
Review
Medicine, General & Internal
Sarah L. Boddy, Ilaria Giovannelli, Matilde Sassani, Johnathan Cooper-Knock, Michael P. Snyder, Eran Segal, Eran Elinav, Lynne A. Barker, Pamela J. Shaw, Christopher J. McDermott
Summary: The gut microbiome may play a significant role in the pathogenesis of ALS, with research indicating that microbial changes can affect disease outcomes. Variability in gut microbiota between individuals may explain the different disease outcomes seen in ALS patients.
Article
Clinical Neurology
Sebastian Michels, Deborah Kurz, Angela Rosenbohm, Raphael S. Peter, Steffen Just, Hansjörg Baezner, Axel Boertlein, Christian Dettmers, Hans-Jürgen Gold, Andreas Kohler, Markus Naumann, Peter Ratzka, Albert C. Ludolph, Dietrich Rothenbacher, Gabriele Nagel, Johannes Dorst
Summary: This large-scale population-based case-control study examined the associations between blood lipid levels and the onset and prognosis of ALS. The results showed a positive correlation between high total cholesterol levels and the risk of ALS. Furthermore, higher levels of HDL and LDL cholesterol were associated with higher mortality in ALS patients, whereas higher triglyceride levels were associated with lower mortality.
JOURNAL OF NEUROLOGY
(2023)
Article
Multidisciplinary Sciences
Radhika Khosla, Manjari Rain, Suresh Sharma, Akshay Anand
Summary: ALS is a degenerative disorder of motor neurons, and early diagnosis is crucial for predicting the disease and its progression. The study presents a predictive statistical model for ALS using plasma and CSF biomarkers, showing good validity, sensitivity, and specificity.
Article
Clinical Neurology
Virginia Kudritzki, Ileana M. Howard
Summary: The Veterans Health Administration (VHA) has been a leader in implementing telehealth technologies for rehabilitation and expanding non-traditional patient encounters. ALS is a progressive neurodegenerative disease that affects veterans at a higher rate and has limited access to specialized care. Exercise interventions delivered through telehealth have shown promise in maintaining or restoring function for ALS patients. This review proposes a framework for telehealth delivery of exercise interventions and discusses the evidence supporting telehealth-based exercise for neuromuscular disorders.
FRONTIERS IN NEUROLOGY
(2023)
Review
Biochemistry & Molecular Biology
Belen Proano, Julia Casani-Cubel, Maria Benlloch, Ana Rodriguez-Mateos, Esther Navarro-Illana, Jose Maria Lajara-Romance, Jose Enrique de la Rubia Orti
Summary: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with no medical cure. Dutasteride, a potential treatment molecule, has shown neuroprotective, antioxidant, and anti-inflammatory effects in ALS.
Review
Biochemistry & Molecular Biology
Soju Seki, Yoshihiro Kitaoka, Sou Kawata, Akira Nishiura, Toshihiro Uchihashi, Shin-ichiro Hiraoka, Yusuke Yokota, Emiko Tanaka Isomura, Mikihiko Kogo, Susumu Tanaka
Summary: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by the degeneration of motor neurons, with emerging evidence suggesting involvement of sensory neurons. Clinical research has shown sensory symptoms and abnormal nerve conduction in ALS patients, while preclinical research has identified genetic abnormalities in both sensory and motor neurons. This review highlights the potential of targeting sensory neuron abnormalities in ALS for new therapies.
Article
Cell Biology
B. S. Soumya, V. P. Shreenidhi, Apoorvaa Agarwal, Rajesh Kumar Gandhirajan, Arun Dharmarajan, Sudha Warrier
Summary: Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease characterized by the degeneration of upper and lower motor neurons, resulting in muscle wasting, paralysis, and death. The Wnt signaling pathway has been implicated in the progression of ALS and is involved in oxidative stress, mitochondrial dysfunction, autophagy, and apoptosis. Mutations in ALS-associated genes disrupt neuronal integrity and homeostasis, leading to motor neuron demise. Dysregulated canonical and non-canonical Wnt pathways play a role in multiple motor neuron disease models, highlighting the potential of targeting Wnt signaling in ALS treatment.
CELLULAR SIGNALLING
(2023)
Article
Environmental Sciences
Angeline Andrew, Jie Zhou, Jiang Gui, Antoinette Harrison, Xun Shi, Meifang Li, Bart Guetti, Ramaa Nathan, Maeve Tischbein, Erik Pioro, Elijah Stommel, Walter Bradley
Summary: This study used geospatial estimation to assess the exposure of ALS patients to airborne contaminants and found that airborne lead and polychlorinated biphenyls (PCBs) may be associated with an increased risk of ALS. The main sources of these contaminants include small aircraft, power plants burning biomass, and industrial boilers. The association with a residential history of lead exposure was confirmed in two additional cohorts.
SCIENCE OF THE TOTAL ENVIRONMENT
(2022)
Article
Environmental Sciences
Fan Wu, Angela M. Malek, Jeanine M. Buchanich, Vincent C. Arena, Judith R. Rager, Ravi K. Sharma, John E. Vena, Todd Bear, Evelyn O. Talbott
Summary: This study aimed to investigate the risk factors for ALS and found that high exposure to vinyl chloride, 2,4-dinitrotoluene, cyanide, cadmium, and carbon disulfide was associated with an increased risk of ALS. Additionally, residential air selenium showed an inverse association with ALS, while exposure to organic/chlorinated solvents was associated with ALS. These findings highlight the importance of ongoing surveillance of potential exposures for at-risk populations.
ENVIRONMENTAL RESEARCH
(2024)
Article
Nutrition & Dietetics
Juan Jose Lopez-Gomez, Maria D. Ballesteros-Pomar, Beatriz Torres-Torres, Begona Pintor De la Maza, M. Angeles Penacho-Lazaro, Jose M. Palacio-Mures, Cristina Abreu-Padin, Antonio Lopez-Guzman, Daniel A. De Luis-Roman
Summary: The study evaluated the nutritional status of ALS patients at the beginning of specialized nutritional treatment and its influence on disease progression and survival. The results showed that patients with worse nutritional status had a lower survival median, highlighting the importance of nutritional status in ALS management.
CLINICAL NUTRITION
(2021)
Review
Clinical Neurology
Diane B. Re, Beizhan Yan, Lilian Calderon-Garciduenas, Angeline S. Andrew, Maeve Tischbein, Elijah W. Stommel
Summary: Multiple studies show that US veterans are at higher risk of developing ALS compared to civilians, possibly due to neurotoxic exposures experienced during their service. However, limited research has been done on the specific causes of ALS in veterans and biomarker-based assessment of their exposures.
JOURNAL OF NEUROLOGY
(2022)
Review
Immunology
Matteo Garibaldi, Laura Fionda, Fiammetta Vanoli, Luca Leonardi, Simona Loreti, Elisabetta Bucci, Antonella Di Pasquale, Stefania Morino, Elisa Vizzaccaro, Gioia Merlonghi, Marco Ceccanti, Matteo Lucchini, Massimiliano Mirabella, Francesca Andreetta, Elena Maria Pennisi, Antonio Petrucci, Marco Salvetti, Giovanni Antonini
AUTOIMMUNITY REVIEWS
(2020)
Article
Clinical Neurology
Matteo Garibaldi, Fabio Calabro, Gioia Merlonghi, Silvia Pugliese, Marco Ceccanti, Lara Cristiano, Tommaso Tartaglione, Antonio Petrucci
NEUROMUSCULAR DISORDERS
(2020)
Article
Clinical Neurology
Laura Serra, Guendalina Bianchi, Michela Bruschini, Giovanni Giulietti, Carlotta Di Domenico, Sabrina Bonarota, Antonio Petrucci, Gabriella Silvestri, Alessia Perna, Giovanni Meola, Carlo Caltagirone, Marco Bozzali
FRONTIERS IN NEUROLOGY
(2020)
Article
Cell Biology
Marco Ceccanti, Valeria Pozzilli, Chiara Cambieri, Laura Libonati, Emanuela Onesti, Vittorio Frasca, Ilenia Fiorini, Antonio Petrucci, Matteo Garibaldi, Eleonora Palma, Caterina Bendotti, Paola Fabbrizio, Maria Chiara Trolese, Giovanni Nardo, Maurizio Inghilleri
Article
Behavioral Sciences
Laura Serra, Marta Scocchia, Giovanni Meola, Marcello D'Amelio, Michela Bruschini, Gabriella Silvestri, Antonio Petrucci, Di Domenico Carlotta, Carlo Caltagirone, Giacomo Koch, Mara Cercignani, Laura Petrosini, Marco Bozzali
Article
Clinical Neurology
Alessia Perna, Daria Maccora, Salvatore Rossi, Tommaso Filippo Nicoletti, Maria Assunta Zocco, Vittorio Riso, Anna Modoni, Antonio Petrucci, Venanzio Valenza, Antonio Grieco, Luca Miele, Gabriella Silvestri
FRONTIERS IN NEUROLOGY
(2020)
Article
Clinical Neurology
Erica Frezza, Emanuela Fuccillo, Antonio Petrucci, Giulia Greco, Gabriele Nucera, Ernesto Bruno, Emiliano Giardina, Rossella Tupler, Roberta Di Mauro, Stefano Di Girolamo, Roberto Massa
Summary: This study found that cochlear function is impaired in patients with FSHD1, even in those with normal hearing and/or mild muscle involvement, as indicated by reduced DPOAEs and TEOAEs at all frequencies. Cochlear echoes can be a sensitive tool for detecting subclinical cochlear dysfunction in FSHD1, highlighting the importance of evaluating cochlear alteration through OAEs.
OTOLOGY & NEUROTOLOGY
(2021)
Article
Neuroimaging
Sara Leddy, Laura Serra, Davide Esposito, Camilla Vizzotto, Giovanni Giulietti, Gabriella Silvestri, Antonio Petrucci, Giovanni Meola, Leonardo Lopiano, Mara Cercignani, Marco Bozzali
Summary: Patients with Myotonic Dystrophy type 1 exhibit widespread white matter lesions associated with CTG triplet expansion, with a higher prevalence of anterior temporal lobe lesions compared to patients with multiple sclerosis (MS). While the lesion volume is smaller in DM1 compared to MS, DM1 lesions show a significant loss of myelin density, which is not observed in the normal appearing white matter.
NEUROIMAGE-CLINICAL
(2021)
Article
Cell Biology
Gabriella Dobrowolny, Julie Martone, Elisa Lepore, Irene Casola, Antonio Petrucci, Maurizio Inghilleri, Mariangela Morlando, Alessio Colantoni, Bianca Maria Scicchitano, Andrea Calvo, Giulia Bisogni, Adriano Chio, Mario Sabatelli, Irene Bozzoni, Antonio Musaro
Summary: Through a longitudinal study of circulating miRNAs in ALS patients, it was found that high levels of miR-206, miR-133a, and miR-151a-5p can predict slower clinical decline in patient functionality. The expression of these miRNAs showed different trends at various stages of ALS pathology, suggesting their potential as prognostic markers for the disease.
CELL DEATH DISCOVERY
(2021)
Article
Clinical Neurology
Antonio Petrucci, Guido Primiano, Marco Savarese, Cristina Sancricca, Bjarne Udd, Serenella Servidei
Summary: Mutations in the TNNT1 gene can cause Amish Nemaline Myopathy, characterized by muscle pain, exercise intolerance, and respiratory difficulties. This rare disease is rarely seen in adult patients, with respiratory failure being a main manifestation in adulthood.
NEUROMUSCULAR DISORDERS
(2021)
Article
Biochemistry & Molecular Biology
Daniele Galatolo, Giovanna De Michele, Gabriella Silvestri, Vincenzo Leuzzi, Carlo Casali, Olimpia Musumeci, Antonella Antenora, Guja Astrea, Melissa Barghigiani, Roberta Battini, Carla Battisti, Caterina Caputi, Ettore Cioffi, Giuseppe De Michele, Maria Teresa Dotti, Tommasina Fico, Chiara Fiorillo, Serena Galosi, Maria Lieto, Alessandro Malandrini, Marina A. B. Melone, Andrea Mignarri, Gemma Natale, Elena Pegoraro, Antonio Petrucci, Ivana Ricca, Vittorio Riso, Salvatore Rossi, Anna Rubegni, Arianna Scarlatti, Francesca Tinelli, Rosanna Trovato, Gioacchino Tedeschi, Alessandra Tessa, Alessandro Filla, Filippo Maria Santorelli
Summary: The study utilized a targeted resequencing panel to analyze genetic data in a cohort of 377 patients with a clinical diagnosis of hereditary ataxia, resulting in a positive genetic diagnosis rate of 33.2% and an uncertain molecular diagnosis in 15.6% of the patients. The most common causative genes identified were STUB1, PRKCG, and SPG7.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Genetics & Heredity
Marco Luigetti, Valeria Guglielmino, Giovanni Antonini, Carlo Casali, Marco Ceccanti, Maria Grazia Chiappini, Laura De Giglio, Vincenzo Di Lazzaro, Antonio Di Muzio, Mariangela Goglia, Maurizio Inghilleri, Luca Leonardi, Roberto Massa, Elena Maria Pennisi, Antonio Petrucci, Emanuela Proietti, Marianna Rispoli, Mario Sabatelli, Marco Di Girolamo
Summary: A survey conducted in the Lazio region of Italy revealed a higher prevalence rate of hereditary transthyretin amyloidosis (ATTRv) at 17.2/million compared to previous estimates. This suggests a possibly higher prevalence of the disease in non-endemic countries. Increasing awareness of the disease among general practitioners and medical specialists is crucial in reducing diagnostic delays and initiating timely treatment.
Article
Behavioral Sciences
Maria Puopolo, Ilaria Bacigalupo, Paola Piscopo, Eleonora Lacorte, Alessandra Di Pucchio, Marialaura Santarelli, Maurizio Inghilleri, Antonio Petrucci, Mario Sabatelli, Nicola Vanacore
Summary: This study conducted the first estimation of ALS prevalence in the Latium region, identifying 353 cases in 2016 with a total crude prevalence rate of 7.33 x 100,000 in population aged >=20 years. Most patients had a definite diagnosis, with a small percentage classified as likely or possible.
BRAIN AND BEHAVIOR
(2021)
Article
Public, Environmental & Occupational Health
Silvia Romano, Ilaria Bacigalupo, Christian Marcotulli, Ettore Cioffi, Enrico Silvio Bertini, Gessica Vasco, Alessia Perna, Antonio Petrucci, Roberto Massa, Erica Frezza, Carmela Romano, Marco Salvetti, Giovanni Ristori, Gabriella Silvestri, Nicola Vanacore, Carlo Casali
Summary: The aim of this study was to estimate the prevalence of Friedreich's ataxia (FRDA) in a highly populated region of Italy and define the patients' molecular and clinical characteristics. The study identified 63 FRDA patients, with a crude prevalence of 1.07 per 100,000 inhabitants. Significant differences were found in the scale for the assessment and rating of ataxia (SARA) and the distribution of the shorter allele among different age-at-onset groups. Multivariate regression analysis showed that patients' molecular and clinical characteristics accounted for 45.3% of the annual rate of progression.
Article
Clinical Neurology
Antonio Petrucci, Ludovico Lispi, Matteo Garibaldi, Erika Frezza, Francesca Moro, Roberto Massa, Filippo Maria Santorelli
Summary: Mutations in the NEFL gene can cause different phenotypes of CMT diseases with various patterns of transmission. In this study, we identified two new unrelated Italian families with NEFL-related CMT, characterized by childhood onset and features such as impaired gait and reduced sensation. Neurophysiological investigations revealed demyelinating or intermediate forms. Genetic analysis revealed two heterozygous variants in NEFL, one of which acted as a modifier factor associated with axonal nerve damage.
EUROPEAN NEUROLOGY
(2023)