Article
Clinical Neurology
F. Henning, J. M. Heckmann, K. Naidu, L. Vlok, H. M. Cross, B. Marin
Summary: This study conducted a 4-year research in the Western Cape Province of South Africa and found that the incidence rate of ALS in the region was lower than that in North African and Western countries, but higher than in Asian countries. The incidence rate was highest in the European ancestry group, lowest in the African ancestry group, and intermediate in the mixed ancestry group.
EUROPEAN JOURNAL OF NEUROLOGY
(2021)
Article
Clinical Neurology
Maria Ida Pateri, Silvy Pilotto, Giuseppe Borghero, Francesca Pili, Vincenzo Pierri, Tommaso Ercoli, Angelo Fabio Gigante, Antonella Muroni, Giovanni Defazio
Summary: While ALS incidence has increased in recent years, this study in Southern Sardinia found a non-significant increase in ALS prevalence from 2015 to 2019. However, a significant rise in prevalence was observed in tracheostomized ALS patients during this period, while non-tracheostomized patients showed no significant difference.
NEUROLOGICAL SCIENCES
(2023)
Article
Public, Environmental & Occupational Health
Jaime Raymond, Paul Mehta, Ted Larson, Erik P. Pioro, D. Kevin Horton
Summary: Through the analysis of data from 1,018 female ALS patients, the study found that women who completed menopause before age 50 were more likely to be diagnosed with ALS before age 60, particularly in both unadjusted and adjusted analyses.
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
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
Clinical Neurology
Alejandra Camacho-Soto, Susan Searles Nielsen, Irene M. Faust, Robert C. Bucelli, Timothy M. Miller, Brad A. Racette
Summary: This study aimed to investigate the incidence and survival rates of amyotrophic lateral sclerosis (ALS) in Medicare beneficiaries aged 66 to 90. The findings suggest that older and marginalized ALS patients are less likely to be accurately diagnosed and included in epidemiological studies.
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)
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
Patrizia M. Maier, Deetje Iggena, Thomas Meyer, Carsten Finke, Christoph J. Ploner
Summary: This study found no evidence of hippocampal dysfunction in non-demented ALS patients, suggesting that the cognitive phenotype of ALS may relate to distinct disease subtypes rather than being a variable expression of the same underlying condition.
JOURNAL OF NEUROLOGY
(2023)
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.
Article
Radiology, Nuclear Medicine & Medical Imaging
Giorgio Conte, Valeria Elisa Contarino, Silvia Casale, Claudia Morelli, Sara Sbaraini, Elisa Scola, Francesca Trogu, Silvia Siggillino, Claudia Maria Cinnante, Luca Caschera, Francesco Maria Lo Russo, Fabio Maria Triulzi, Vincenzo Silani
Summary: The study aimed to investigate whether magnetic susceptibility varies according to ALS phenotypes based on UMN/LMN sign predominance. Results showed significant differences in susceptibility properties of the precentral cortex among different clinical ALS phenotypes. Combined MRI-histopathology investigations are needed to confirm the evidence of iron overload in UMN-ALS unlike in LMN-ALS.
EUROPEAN RADIOLOGY
(2021)
Article
Cell Biology
Chaohua Cong, Weiwei Liang, Chunting Zhang, Ying Wang, Yueqing Yang, Xudong Wang, Shuyu Wang, Di Huo, Hongyong Wang, Di Wang, Honglin Feng
Summary: In ALS models, the expression and activation of PAK4 significantly decreased as the disease progressed due to the negative regulation of miR-9-5p. Silencing PAK4 increased apoptosis of motor neurons by inhibiting CREB-mediated neuroprotection, while overexpression of PAK4 protected motor neurons from degeneration by activating CREB signaling.
CELL PROLIFERATION
(2021)
Review
Clinical Neurology
Ingridy Barbalho, Ricardo Valentim, Mario Dourado Junior, Daniele Barros, Hercules Pedrosa Junior, Felipe Fernandes, Cesar Teixeira, Thaisa Lima, Jailton Paiva, Danilo Nagem
Summary: The establishment of electronic registries that are robust, interoperable, and secure is both a solution and a challenge for generating value for research and patients. This systematic review showed that a successful population registry necessitates clear development methods and the participation of diverse actors in civil society.
Review
Clinical Neurology
Christian Wilson R. Turalde, Kevin Michael C. Moalong, Adrian I. Espiritu, Mario B. Prado
Summary: This study aimed to evaluate the efficacy and safety of perampanel in ALS patients in terms of functional status improvement. After reviewing relevant studies, the results showed that perampanel did not have sufficient evidence to support its role in improving functional status in ALS patients. However, it was found to improve cortical motor hyperexcitability. Adverse events such as aggression, somnolence, anger, and dysarthria were associated with perampanel use among ALS patients. Further studies are needed to investigate the potential benefits of perampanel in ALS, considering factors such as disease stage, specific patient characteristics, and titration schedule.
NEUROLOGICAL SCIENCES
(2022)
Review
Biochemistry & Molecular Biology
Bradley Roberts, Frances Theunissen, Francis L. Mastaglia, P. Anthony Akkari, Loren L. Flynn
Summary: This review provides a comprehensive overview of the literature on the etiology and development of ALS, as well as its commonalities with synucleinopathy disorders. It discusses the involvement of alpha Syn in ALS and motor neuron disease pathology, along with current theories and strategies for therapeutics in ALS treatment, with a focus on small molecule RNA technologies.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Clinical Neurology
Elisa Longinetti, Olafur Sveinsson, Rayomand Press, Weimin Ye, Caroline Ingre, Fredrik Piehl, Fang Fang
Summary: The study found that the high concurrence of ALS and MS/MG/IP/DMPM diagnoses is mainly due to diagnostic uncertainty, with only a minority of patients truly having a co-occurrence of ALS and autoimmune diseases. Some patients were diagnosed with MG shortly after the onset of ALS, suggesting that neurodegeneration may trigger autoimmunity.
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION
(2022)
Article
Clinical Neurology
Ulf Klappe, Sanharib Chamoun, Qing Shen, Anja Finn, Bjorn Evertsson, Henrik Zetterberg, Kaj Blennow, Rayomand Press, Kristin Samuelsson, Anna Manberg, Fang Fang, Caroline Ingre
Summary: NfL is a stronger diagnostic and prognostic biomarker than hs-cTnT for ALS, however, hs-cTnT may serve as a marker for disease progression as it increases over time. Further investigation is needed to understand the underlying reasons for this increase.
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION
(2022)
Article
Public, Environmental & Occupational Health
Alexandra M. Wennberg, Weiyao Yin, Fang Fang, Nancy L. Pedersen, Sara Hagg, Juulia Jylhava, Karin Modig
Summary: This study evaluated the utility of a code-based frailty score in registry data and found that it may not capture the full spectrum of frailty among community-dwelling individuals, particularly at younger ages.
SCANDINAVIAN JOURNAL OF PUBLIC HEALTH
(2023)
Article
Immunology
Christina Seitz, Anne-Laure Joly, Fang Fang, Katie Frith, Paul Gray, John Andersson
Summary: The transcription factor FOXP3 is crucial for the development and function of CD4(+)FOXP3(+) regulatory T (Treg) cells. Alterations in the expression of FOXP3 isoforms are associated with inflammatory disease progression. This study investigates the effects of a specific FOXP3 mutation on Treg cell subsets. The findings suggest that the full-length FOXP3 isoform is important for maintaining Treg cell lineage stability but not essential for Treg cell activation.
CLINICAL IMMUNOLOGY
(2022)
Article
Clinical Neurology
Stefan Sennfalt, Ulf Klappe, Sebastian Thams, Kristin Samuelsson, Rayomand Press, Fang Fang, Caroline Ingre
Summary: This study aimed to provide a detailed description of the path to a correct diagnosis of amyotrophic lateral sclerosis (ALS), including delays, referrals, alternate diagnoses, and clinical progression. The study found significant variations in the diagnostic pathway based on the clinical phenotype, with substantial delays and clinical progression in all groups.
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION
(2023)
Article
Clinical Neurology
Stefan Sennfalt, Ulf Klappe, Sebastian Thams, Kristin Samuelsson, Rayomand Press, Fang Fang, Caroline Ingre
Summary: This retrospective cohort study provides a comprehensive account of death in Swedish patients with ALS, including the clinical status preceding death, the death setting, and symptoms. The majority of patients died in their own homes or at a palliative unit in the presence of next of kin, and most symptoms were adequately managed.
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION
(2023)
Review
Clinical Neurology
Sean W. Willemse, Peter Harley, Ruben P. A. van Eijk, Koen C. Demaegd, Pavol Zelina, R. Jeroen Pasterkamp, Philip van Damme, Caroline Ingre, Wouter van Rheenen, Jan H. Veldink, Matthew C. Kiernan, Ammar Al-Chalabi, Leonard H. van den Berg, Pietro Fratta, Michael A. van Es
Summary: Amyotrophic lateral sclerosis (ALS) is a deadly neurodegenerative disease with limited treatment options. A specific gene polymorphism in the UNC13A gene has been found to increase the risk of ALS and frontotemporal dementia (FTD), and can modify the disease phenotype in ALS patients. UNC13A is involved in maintaining synaptic active zones and its depletion leads to impaired neurotransmission. Recent discoveries have identified UNC13A as a potential therapeutic target, with ongoing trials using lithium carbonate and considering antisense oligonucleotides. Knowledge of UNC13A's distinct phenotype is important for future clinical trials.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2023)
Article
Clinical Neurology
Kelly G. Gwathmey, Philippe Corcia, Chris J. McDermott, Angela Genge, Stefan Sennfalt, Mamede de Carvalho, Caroline Ingre
Summary: ALS is a fatal neurodegenerative disease with a long delay in diagnosis. This delay is influenced by lack of recognition and misdiagnosis by general practitioners, as well as patient factors such as illness behavior and site of symptom onset.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Jeremy M. Shefner, Ammar Al-Chalabi, Jinsy A. Andrews, Adriano Chio, Mamede De Carvalho, Bettina M. Cockroft, Philippe Corcia, Philippe Couratier, Merit E. Cudkowicz, Angela Genge, Orla Hardiman, Terry Heiman-Patterson, Robert D. Henderson, Caroline Ingre, Carlayne E. Jackson, Wendy Johnston, Noah Lechtzin, Albert Ludolph, Nicholas J. Maragakis, Timothy M. Miller, Jesus S. Mora Pardina, Susanne Petri, Zachary Simmons, Leonard H. Van Den Berg, Lorne Zinman, Stuart Kupfer, Fady I. Malik, Lisa Meng, Tyrell J. Simkins, Jenny Wei, Andrew A. Wolff, Stacy A. Rudnicki
Summary: The objective of this study is to determine the target population and optimize the study design for the phase 3 clinical trial of reldesemtiv in ALS participants. The phase 2 study, FORTITUDE-ALS, showed that reldesemtiv had a significant effect on participants with intermediate and fast disease progression, leading to the implementation of specific eligibility criteria and design features in the phase 3 trial, COURAGE-ALS, to increase sensitivity in detecting treatment effects and reduce burden on participants and study sites.
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION
(2023)
Article
Clinical Neurology
Robert McFarlane, Miriam Galvin, Mark Heverin, Eanna Mac Domhnaill, Deirdre Murray, Dara Meldrum, Peter Bede, Anthony Bolger, Lucy Hederman, Sinead Impey, Gaye Stephens, Ciara O'Meara, Vincent Wade, Ammar Al Chalabi, Adriano Chio, Phillippe Corcia, Philip van Damme, Caroline Ingre, Christopher McDermott, Monica Povedanos, Leonard Van den Berg, Orla Hardiman
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION
(2023)
Article
Clinical Neurology
Stefan Sennfalt, Marco Pagani, Fang Fang, Irina Savitcheva, Ulrika Estenberg, Caroline Ingre
Summary: This study aimed to investigate the correlation between focal motor weakness and metabolic alterations in specific areas of the brain in ALS patients using FDG-PET, including longitudinal imaging. The results showed a general pattern of brain metabolic alterations consistent with previous findings in ALS. However, there was no clear correlation between focal motor weakness and specific metabolic alterations. Further research, particularly with larger sample sizes and longitudinal imaging, is needed.
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION
(2023)
Article
Clinical Neurology
Elisa Longinetti, Simon Englund, Joachim Burman, Katharina Fink, Anna Fogdell-Hahn, Martin Gunnarsson, Jan Hillert, Annette Magdalene Langer-Gould, Jan Lycke, Petra Nilsson, Jonatan Salzer, Anders Svenningsson, Johan Mellergard, Tomas Olsson, Fredrik Piehl, Thomas Frisell
Summary: This study analyzed a Swedish nationwide observational study on RRMS to identify trajectories of processing speed and physical disability after DMT start. The results showed that patients' processing speed remained stable over time, while those with moderate physical disability experienced deterioration in physical function. However, there was a strong association between processing speed and disability.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2023)
Article
Clinical Neurology
Juliette Foucher, Ivar Winroth, Aniko Lovik, Stefan Sennfalt, Joana B. B. Pereira, Fang Fang, Dorothee Lule, Peter M. M. Andersen, Caroline Ingre
Summary: This study validates the validity and reliability of SK-ECAS Version A for detecting cognitive impairment in newly diagnosed ALS patients.
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION
(2023)
Article
Clinical Neurology
Jeremy M. Shefner, Bill Jacobsen, Stuart Kupfer, Fady I. Malik, Lisa Meng, Jenny Wei, Andrew A. Wolff, Stacy A. Rudnicki
Summary: In an ALS clinical trial, the relationship between measurements of strength, function, and quality of life was assessed. The results showed a strong correlation between muscle strength quantified by dynamometry and functional capacity, indicating a direct relationship between muscle strength and specific functions important to ALS patients.
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION
(2023)