Article
Clinical Neurology
Eleonora Colombo, Alberto Doretti, Francesco Scheveger, Alessio Maranzano, Giulia Pata, Delia Gagliardi, Megi Meneri, Stefano Messina, Federico Verde, Claudia Morelli, Stefania Corti, Luca Maderna, Vincenzo Silani, Nicola Ticozzi
Summary: This study aimed to analyze the correlation between electrophysiological parameters and clinical characteristics of ALS. The results showed a significant association between AD and CD scores and disease progression, survival, and functional disability in ALS patients.
JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Yuichi Nishikawa, Ales Holobar, Kohei Watanabe, Tetsuya Takahashi, Hiroki Ueno, Noriaki Maeda, Hirofumi Maruyama, Shinobu Tanaka, Allison S. Hyngstrom
Summary: This study detected specific motor unit (MU) abnormalities in people with amyotrophic lateral sclerosis (ALS) using high-density surface electromyography (HD-SEMG). The results showed that ALS patients had abnormal MU firing behavior compared to controls, and these abnormalities were correlated with disease severity.
CLINICAL NEUROPHYSIOLOGY
(2022)
Article
Medicine, General & Internal
Eleonora Volpato, Michele Vitacca, Luciana Ptacinsky, Agata Lax, Salvatore D'Ascenzo, Enrica Bertella, Mara Paneroni, Silvia Grilli, Paolo Banfi
Summary: In ALS patients, home-based adaptation to NIV is as effective as outpatient adaptation in terms of PaCO2, acceptance, and adherence, highlighting the need for further studies on the role of the environment in NIV adherence.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Biochemistry & Molecular Biology
Stefano Zoccolella, Alessia Giugno, Giammarco Milella, Marco Filardi, Alessandro Introna, Angela Fraddosio, Eustachio D'Errico, Valentina Gnoni, Ludovica Tamburrino, Daniele Urso, Francesca Caputo, Salvatore Misceo, Giancarlo Logroscino
Summary: This study proposed a new scoring scale to assess the bulbar lower motor neurons (LMN) involvement in amyotrophic lateral sclerosis (ALS) and evaluated its prognostic value. The results showed that this scale had good reliability in assessing ALS and could provide unique information in phenotyping and predicting survival.
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
Cell Biology
Giulia Guidotti, Chiara Scarlata, Liliana Brambilla, Daniela Rossi
Summary: The involvement of TNF alpha in ALS is controversial, with studies suggesting both protective and detrimental functions depending on the type of TNF alpha receptor activated. Understanding the impact of this cytokine on disease progression may lead to the development of effective therapies targeting the protective roles of TNF alpha and minimizing the detrimental effects.
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
Clinical Neurology
Emily Beswick, Deborah Forbes, Zack Hassan, Charis Wong, Judith Newton, Alan Carson, Sharon Abrahams, Siddharthan Chandran, Suvankar Pal
Summary: Non-motor symptoms like neuropsychiatric, cognitive and behavioral changes, pain, fatigue, and disordered sleep have not been consistently evaluated in ALS clinical trials. When evaluated, these symptoms were mainly assessed using instruments not adapted for individuals with ALS. Future trials should include assessments of non-motor symptoms to explore potential therapeutic benefits.
JOURNAL OF NEUROLOGY
(2022)
Review
Clinical Neurology
Emily Beswick, Emily Park, Charis Wong, Arpan R. Mehta, Rachel Dakin, Siddharthan Chandran, Judith Newton, Alan Carson, Sharon Abrahams, Suvankar Pal
Summary: Up to 50% of ALS patients experience cognitive dysfunction, with high rates of depression and anxiety reported. However, past 25 years of clinical trials have largely neglected the importance of neuropsychiatric symptoms and cognitive impairment in ALS. Evaluation of these non-motor features is crucial for understanding the impact of candidate drugs on all symptoms of ALS.
JOURNAL OF NEUROLOGY
(2021)
Article
Clinical Neurology
Alessio Maranzano, Federico Verde, Eleonora Colombo, Barbara Poletti, Alberto Doretti, Ruggero Bonetti, Delia Gagliardi, Megi Meneri, Luca Maderna, Stefano Messina, Stefania Corti, Claudia Morelli, Vincenzo Silani, Nicola Ticozzi
Summary: Increasing evidence suggests that disease progression in ALS follows a preferential pattern with involvement of neighboring regions from the site of symptom onset. The study aimed to assess the influence of upper and lower motor neuron involvement on the directionality of disease spreading, and the association between specific patterns of disease progression and motor and neuropsychological features of different ALS subtypes. The results showed that ALS patients with lower motor neuron involvement had a higher frequency of horizontal spreading, while those with upper motor neuron involvement displayed a vertical spreading pattern. Non-contiguous disease spreading was associated with more severe upper motor neuron impairment and cognitive impairment. The study also found that regionally entrenching ALS forms were more common in patients with atypical bulbar phenotypes. These findings suggest that disease spreading in ALS may be influenced by the diffusion of toxic factors in the neuron microenvironment.
Article
Radiology, Nuclear Medicine & Medical Imaging
Conte Giorgio, Sbaraini Sara, Morelli Claudia, Casale Silvia, Caschera Luca, Contarino Valeria Elisa, Scola Elisa, Cinnante Claudia, Trogu Francesca, Triulzi Fabio, Silani Vincenzo
Summary: The study aims to differentiate ALS and its subtypes from ALS mimics and healthy controls based on the assessment of iron-related hypointensity of the primary motor cortex in SWI. The Motor Cortex Susceptibility (MCS) score was significantly higher in the ALS group compared to healthy controls and ALS-mimicking disorder groups, with potential diagnostic utility.
EUROPEAN RADIOLOGY
(2021)
Article
Plant Sciences
Sungha Kim, Muhack Yang, Boncho Ku, Eunhye Cha, Wookcheol Seo, Ilhong Son, Hyungwon Kang, Dongwoung Kim, Bongkeun Song, Chang-Sop Yang, Sungchul Kim
Summary: This study aimed to evaluate the efficacy and safety of Mecasin in patients with ALS. Patients were randomized to receive daily doses of 1.6 g or 2.4 g Mecasin, or placebo for 12 weeks. The results showed that Mecasin can slow down the progression of symptoms in ALS patients without major adverse effects.
JOURNAL OF ETHNOPHARMACOLOGY
(2023)
Article
Clinical Neurology
Giammarco Milella, Stefano Zoccolella, Alessia Giugno, Marco Filardi, Daniele Urso, Salvatore Nigro, Benedetta Tafuri, Ludovica Tamburrino, Valentina Gnoni, Giancarlo Logroscino
Summary: This study found that spinal-onset ALS can be categorized into three groups based on the extent of upper motor neuron (UMN) and lower motor neuron (LMN) involvement. UMN burden is associated with higher diagnostic certainty and broader disease spread, while LMN involvement is associated with more severe disease and shorter survival.
JOURNAL OF NEUROLOGY
(2023)
Article
Food Science & Technology
Salvatore D'Antona, Martina Caramenti, Danilo Porro, Isabella Castiglioni, Claudia Cava
Summary: Amyotrophic lateral sclerosis (ALS) is a fatal disease linked to motor neurons degeneration, with diet components like oxidative stress potentially influencing its onset. Some diets with antioxidant and anti-inflammatory properties may reduce the risk of ALS, but current data remains controversial.
Article
Geriatrics & Gerontology
Xiaolu Liu, Tingting Qin, Tao Li, Lei Shan, Xiang Lei, Xin Xu, Bin Wen, Yi Feng, Ping Yin, Dongsheng Fan
Summary: This study aims to evaluate the efficacy of traditional Chinese medicine (TCM) for ALS and select the ROADS as a secondary outcome measure. Through a 48-week clinical trial on nearly 150 patients, the study will assess the safety and effectiveness of Huoling Shengji Granule (HLSJ) as a new drug for ALS patients.
FRONTIERS IN AGING NEUROSCIENCE
(2023)
Article
Clinical Neurology
Jessica Mandrioli, Elisabetta Zucchi, Ilaria Martinelli, Laura Van der Most, Giulia Gianferrari, Cristina Moglia, Umberto Manera, Luca Solero, Rosario Vasta, Antonio Canosa, Maurizio Grassano, Maura Brunetti, Letizia Mazzini, Fabiola De Marchi, Cecilia Simonini, Nicola Fini, Rossella Tupler, Marco Vinceti, Adriano Chio, Andrea Calvo
Summary: This population-based cohort study identified clinical features, comorbidities, disease progression, and prognostic factors in ALS patients carrying C9ORF72 expansion. Compared to patients without mutations, C9 + ALS patients had a higher proportion of family history and frontotemporal dementia, as well as faster disease progression, shorter diagnostic delay, and earlier onset. However, when coexisting with thyroid disorders, C9 + ALS patients had a longer survival.
JOURNAL OF NEUROLOGY
(2023)
Review
Cell Biology
Ilaria Martinelli, Elisabetta Zucchi, Cecilia Simonini, Giulia Gianferrari, Giovanna Zamboni, Marcello Pinti, Jessica Mandrioli
Summary: Although mutations in the SOD1 gene account for only a minority of ALS cases, the discovery of this gene has greatly expanded our understanding of the diverse pathogenic basis of ALS. This review focuses on cognitive impairment in SOD1-ALS patients and highlights the potential frailty of frontal lobe function in patients with different SOD1-ALS mutations. Thoroughly reviewing the reported mutations could contribute to a comprehensive genotype-phenotype correlation database for SOD1-ALS.
NEURAL REGENERATION RESEARCH
(2023)
Article
Clinical Neurology
Giulia Gianferrari, Ilaria Martinelli, Cecilia Simonini, Elisabetta Zucchi, Nicola Fini, Serena Carra, Cristina Moglia, Jessica Mandrioli
Summary: With the increasing importance of personalized approaches based on genetics, it becomes crucial to report new mutations in amyotrophic lateral sclerosis (ALS) genes to better understand their pathogenicity and potential patient responses to specific therapies. SOD1 mutations are the second most common genetic cause of ALS in European populations. In this study, two seemingly unrelated ALS patients from Italy were found to carry the same unfamiliar SOD1 mutation, c.400_402 deletion (p.Glu134del). Both patients exhibited spinal onset, progressive muscular weakness with respiratory involvement, and preserved bulbar function. The possible pathogenic role of this uncommon SOD1 mutation is also discussed.
FRONTIERS IN NEUROLOGY
(2023)
Review
Environmental Sciences
Federica Veneri, Marco Vinceti, Luigi Generali, Maria Edvige Giannone, Elena Mazzoleni, Linda S. Birnbaum, Ugo Consolo, Tommaso Filippini
Summary: A systematic review and meta-analysis was conducted to explore the possible harmful effect of fluoride exposure on cognitive neurodevelopment in children. The majority of studies suggested an adverse effect, especially at low levels of exposure, but the role of confounding factors needs to be further investigated.
ENVIRONMENTAL RESEARCH
(2023)
Article
Environmental Sciences
Teresa Urbano, Annalisa Chiari, Carlotta Malagoli, Andrea Cherubini, Roberta Bedin, Sofia Costanzini, Sergio Teggi, Giuseppe Maffeis, Marco Vinceti, Tommaso Filippini
Summary: Exposure to outdoor air pollutants, particularly PM10, may nonlinearly increase the risk of conversion from MCI to dementia. Higher PM10 levels were associated with increased concentrations of cerebrospinal fluid tau proteins and decreased beta-amyloid levels. The risk of dementia was positively associated with mean PM10 levels above 10 μg/m3 and maximum PM10 levels above 35 μg/m3.
ENVIRONMENTAL RESEARCH
(2023)
Article
Genetics & Heredity
Giulia Vinceti, Chiara Gallingani, Elisabetta Zucchi, Ilaria Martinelli, Giulia Gianferrari, Cecilia Simonini, Roberta Bedin, Annalisa Chiari, Giovanna Zamboni, Jessica Mandrioli
Summary: This study reports a C9ORF72 family with different clinical phenotypes and cerebrospinal fluid biomarkers consistent with Alzheimer's disease pathology. The findings confirm the association between C9ORF72 expansion and Alzheimer's disease.
Article
Biology
Giulia Gianferrari, Ilaria Martinelli, Cecilia Simonini, Elisabetta Zucchi, Nicola Fini, Maria Caputo, Andrea Ghezzi, Annalisa Gessani, Elena Canali, Mario Casmiro, Patrizia De Massis, Marco Curro' Dossi, Silvia De Pasqua, Rocco Liguori, Marco Longoni, Doriana Medici, Simonetta Morresi, Alberto Patuelli, Maura Pugliatti, Mario Santangelo, Elisabetta Sette, Filippo Stragliati, Emilio Terlizzi, Veria Vacchiano, Lucia Zinno, Salvatore Ferro, Amedeo Amedei, Tommaso Filippini, Marco Vinceti, Jessica Mandrioli
Summary: This study analyzed the clinical and genetic features of elderly ALS patients (>80 years old). The results showed that they had worse clinical conditions, shorter survival time, and fewer genetic analyses. Therefore, multidisciplinary management should be more extensively applied to this fragile group of patients.
Article
Food Science & Technology
Dominique Turck, Torsten Bohn, Jacqueline Castenmiller, Stefaan De Henauw, Karen Ildico Hirsch-Ernst, Alexandre Maciuk, Inge Mangelsdorf, Harry J. McArdle, Androniki Naska, Carmen Pelaez, Kristina Pentieva, Alfonso Siani, Frank Thies, Sophia Tsabouri, Marco Vinceti, Margarita Aguilera-Gomez, Francesco Cubadda, Thomas Frenzel, Marina Heinonen, Rosangela Marchelli, Monika Neuhauser-Berthold, Morten Poulsen, Miguel Prieto Maradona, Alexandros Siskos, Josef Rudolf Schlatter, Henk van Loveren, Panagiota Zakidou, Ermolaos Ververis, Helle Katrine Knutsen
Summary: The EFSA Panel on Nutrition, Novel Foods and Food Allergens evaluated the UV-treated powder of whole yellow mealworm as a novel food. The powder is mainly made up of crude protein, fat, digestible carbohydrates and fiber. The true protein content of the powder is overestimated due to the presence of non-protein nitrogen. The UV treatment does not significantly contribute to dietary vitamin D3. The NF is considered safe for consumption, with the exception of potential allergenicity.
Article
Food Science & Technology
Dominique Turck, Torsten Bohn, Jacqueline Castenmiller, Stefaan De Henauw, Karen Ildico Hirsch-Ernst, Alexandre Maciuk, Inge Mangelsdorf, Harry J. McArdle, Androniki Naska, Carmen Pelaez, Kristina Pentieva, Alfonso Siani, Frank Thies, Sophia Tsabouri, Marco Vinceti, Margarita Aguilera Gomez, Francesco Cubadda, Thomas Frenzel, Marina Heinonen, Miguel Prieto Maradona, Rosangela Marchelli, Monika Neuhaeuser-Berthold, Morten Poulsen, Josef Rudolf Schlatter, Henk van Loveren, Reinhard Ackerl, Helle Katrine Knutsen
Summary: The EFSA Panel on Nutrition, Novel Foods and Food Allergens assessed the safety of paramylon, a novel food derived from Euglena gracilis, based on the request from the European Commission. The applicant intends to use paramylon in food supplements, as a food ingredient, and in total diet replacement for weight control. The panel concluded that paramylon is safe for the proposed uses and use levels, based on the qualification of Euglena gracilis, manufacturing process, compositional data, and toxicity studies.
Article
Food Science & Technology
Dominique Turck, Torsten Bohn, Jacqueline Castenmiller, Stefaan De Henauw, Karen Ildico Hirsch-Ernst, Alexandre Maciuk, Inge J. Mangelsdorf, Harry McArdle, Androniki Naska, Carmen Pelaez, Kristina Pentieva, Alfonso Siani, Frank Thies, Sophia Tsabouri, Marco Vinceti, Margarita Aguilera-Gomez, Francesco Cubadda, Thomas Frenzel, Marina Heinonen, Miguel Prieto Maradona, Rosangela Marchelli, Monika Neuhaeuser-Berthold, Morten Poulsen, Josef Rudolf Schlatter, Alexandros Siskos, Henk van Loveren, Paolo Colombo, Estefania Noriega Fernandez, Helle Katrine Knutsen
Summary: Following a request from the European Commission, the EFSA Panel has concluded that 3-fucosyllactose (3-FL) is safe as a novel food. The NF, mainly composed of human-identical milk oligosaccharide 3-FL, is produced through fermentation by a genetically modified strain of E. coli. The intake of 3-FL in various population groups, including infants, is expected to be safe.
Article
Environmental Sciences
Carlotta Malagoli, Marcella Malavolti, Lauren A. Wise, Erica Balboni, Sara Fabbi, Sergio Teggi, Giovanni Palazzi, Monica Cellini, Maurizio Poli, Paolo Zanichelli, Barbara Notari, Andrea Cherubini, Marco Vinceti, Tommaso Filippini
Summary: A study found that children living close to high-voltage power lines and exposed to magnetic fields have an increased risk of leukemia. The study used methods such as registry data and population controls, and adjusted for potential confounding factors. The results showed that children living within 100 meters of high-voltage power lines had an increased risk of leukemia.
ENVIRONMENTAL RESEARCH
(2023)
Review
Peripheral Vascular Disease
Silvia Di Federico, Tommaso Filippini, Paul K. Whelton, Marta Cecchini, Inga Iamandii, Giuseppe Boriani, Marco Vinceti
Summary: There is a direct and linear association between alcohol consumption and systolic blood pressure, with no evidence of a threshold. However, the association with diastolic blood pressure is modified by sex and geographic location.