Article
Multidisciplinary Sciences
Emmalin Buajitti, Laura C. Rosella, Ersi Zabzuni, L. Trevor Young, Ana C. Andreazza
Summary: This study used administrative data from Ontario, Canada to measure the prevalence, patient characteristics, and healthcare costs of mitochondrial disease, showing a prevalence rate of 1 in 3989. The findings highlight the high healthcare burden and costs incurred by patients with mitochondrial disease in the Ontario healthcare system.
Review
Medicine, General & Internal
Rosario Vasta, Ruth Chia, Bryan J. Traynor, Adriano Chio
Summary: This review discusses the role of genetic and environmental factors in motor neuron degeneration and suggests that gene-environment interactions may contribute to the unknown etiology of ALS. Climate is the underlying basis for multiple environmental factors, and the impact of global temperature increase on gene-environment interactions should be monitored.
Article
Clinical Neurology
Friederike Neuss, Felix von Podewils, Zhong Irene Wang, Marie Suesse, Uwe Klaus Zettl, Matthias Grothe
Summary: This study described a cohort of patients with both MS and epileptic seizures, finding that a significant percentage of MS patients with seizures had competing causes at the time of the first seizure. A detailed diagnostic setup including patient history, EEG, and MRI is recommended for evaluation and treatment decisions.
JOURNAL OF NEUROLOGY
(2021)
Article
Clinical Neurology
Zahra Nasr, Vinicius Andreoli Schoeps, Amin Ziaei, Akash Virupakshaiah, Cameron Adams, T. Charles Casper, Michael Waltz, John Rose, Moses Rodriguez, Jan-Mendelt Tillema, Tanuja Chitnis, Jennifer S. Graves, Leslie Benson, Mary Rensel, Lauren Krupp, Amy T. Waldman, Bianca Weinstock-Guttman, Tim Lotze, Benjamin Greenberg, Gregory Aaen, Soe Mar, Teri Schreiner, Janace Hart, Steve Simpson-Yap, Clementina Mesaros, Lisa F. Barcellos, Emmanuelle Waubant
Summary: Using a case-control study, the researchers estimated the gene-environment interaction between exposure to household chemicals and genotypes for risk of paediatric-onset multiple sclerosis. The study found associations between exposure to insect repellents, weed control products, and plant/tree insect or disease control products and an increased risk of paediatric-onset multiple sclerosis. Additionally, significant interactions were found between weed control products and the NFKB1 SNP GG genotype, as well as between plant or disease control products and absence of the HLA-A*02 genotype.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2023)
Article
Clinical Neurology
Niklas Frahm, Melanie Peters, Jorg Baetzing, David Ellenberger, Manas K. Akmatov, Judith Haas, Paulus S. Rommer, Alexander Stahmann, Uwe K. Zettl, Jakob Holstiege
Summary: This study is the largest in terms of both the size of the source population (87% of German children aged <18 years) and the study period (2009-2018) worldwide. The analysis showed an increase in MS prevalence over the past 10 years, with a higher proportion of female patients in the 15-17 age group in 2018.
EUROPEAN JOURNAL OF NEUROLOGY
(2021)
Article
Clinical Neurology
Kelsi A. Smith, Fredrik Piehl, Tomas Olsson, Lars Alfredsson, Jan Hillert, Ingrid Kockum, Pernilla Strid, Scott Montgomery
Summary: This study aimed to describe spasticity treatment patterns among people with multiple sclerosis (MS). The results showed that younger patients were more likely to receive baclofen treatment and had high discontinuation rates. This highlights the need for more tolerable and effective spasticity treatments and monitoring of spasticity among people with MS.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2023)
Article
Medicine, General & Internal
Patrick K. A. Kearns, Sarah J. Martin, Jessie Chang, Rozanna Meijboom, Elizabeth N. York, Yingdi Chen, Christine Weaver, Amy Stenson, Katarzyna Hafezi, Stacey Thomson, Elizabeth Freyer, Lee Murphy, Adil Harroud, Peter Foley, David Hunt, Margaret McLeod, Jonathon O'Riordan, F. J. Carod-Artal, Niall J. J. MacDougall, Sergio E. Baranzini, Adam D. Waldman, Peter Connick, Siddharthan Chandran
Summary: This study aims to explore the pathobiology and determinants of disease heterogeneity in multiple sclerosis (MS) by integrating clinical phenotyping, imaging, genetics, and biomarkers. Recruitment, baseline assessment, and one-year follow-up have been completed. Longer-term follow-up is planned.
Article
Clinical Neurology
Marijne Vandebergh, Nicolas Degryse, Benedicte Dubois, An Goris
Summary: Multiple sclerosis (MS) is a complex disease involving genetic variants and environmental factors, including obesity, vitamin D deficiency, Epstein-Barr virus infection, and smoking. Leveraging genetics through the Mendelian randomization paradigm helps inform prevention strategies for MS by studying the impact of environmental factors on susceptibility. This approach draws parallels with observational studies and randomized controlled trials, highlighting the challenges and opportunities for future research in this area.
JOURNAL OF NEUROLOGY
(2022)
Article
Clinical Neurology
Filipe Cortes-Figueiredo, Nete Munk Nielsen, Egon Stenager, Friedemann Paul, Jesper Hallas, Kasper Bruun Kristensen
Summary: The use of systemic retinoids was not found to be associated with a reduced incidence of MS compared to the use of non-retinoid acne drugs in this study. The results showed no significant association between the use of systemic retinoids and MS incidence when compared to the use of non-retinoid acne drugs.
EUROPEAN JOURNAL OF NEUROLOGY
(2022)
Article
Medicine, General & Internal
Karoline Doser, Hanne Hove, John R. Ostergaard, Pernille E. Bidstrup, Susanne O. Dalton, Mette Moller Handrup, Cecilie Ejerskov, Anja Kroyer, Mia Aagaard Doherty, Jens Richardt Mollegaard Jepsen, John J. Mulvihill, Jeanette F. Winther, Line Kenborg
Summary: The Danish NF1 cohort study aims to examine the health-related, socioeconomic, and psychological consequences of living with NF1 using a nationwide and population-based approach. The cohort includes all individuals in Denmark who were hospitalised or registered with NF1 from 1977 to 2013. The findings so far reveal increased risks for various disorders, psychiatric conditions, lower education levels, and difficulties in forming partnerships among individuals with NF1. Women with NF1 also have higher risks of spontaneous abortions and stillbirths. The study highlights the impaired quality of life and need for professional support among adults with NF1.
Article
Clinical Neurology
Soonwook Kwon, Se Young Jung, Kyung-do Han, Jin Hyung Jung, Yohwan Yeo, Eun Bin Cho, Jong Hyeon Ahn, Dong Wook Shin, Ju-Hong Min
Summary: This study found that patients with multiple sclerosis (MS) and neuromyelitis optica spectrum disorder (NMOSD) have an increased risk of developing Parkinson's disease (PD), especially in MS patients. Sex, age, diabetes, hypertension, and dyslipidemia did not significantly affect the risk of PD.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2022)
Review
Public, Environmental & Occupational Health
Carolyn A. Brown, Cathy Lally, Varant Kupelian, W. Dana Flanders
Summary: This study estimated the prevalence and incidence of ALS and SOD1/C9orf72 ALS cases in 22 countries across Europe, North America, Latin America, and Asia. Significant heterogeneity in reported incidence and prevalence was observed within and between countries/geographic regions. The majority of SOD1 and C9orf72 ALS cases were found among those with sporadic ALS, indicating that the classification of familial ALS based on reported family history may not fully capture the genetic origin of ALS.
Article
Clinical Neurology
Mohammad Sarmadi, Hanie Saravani, Omid Azizi, Fereshteh Najafi, Mostafa Hadei, Jalil Momeni, Edris Bazrafshan
Summary: The study investigated the prevalence and incidence of MS in Northeast Iran, showing an increasing trend in both rates over the recent decades.
NEUROLOGICAL SCIENCES
(2022)
Article
Multidisciplinary Sciences
Mohammed Osman, Karen J. B. Martins, Kai On Wong, Khanh Vu, Alexis Guigue, Jan Willem Cohen Tervaert, Robert Gniadecki, Scott W. Klarenbach
Summary: This population-based study in Alberta, Canada found a higher incidence and prevalence of dermatomyositis in adults compared to other cohorts. The use of medications for dermatomyositis decreased over time, with glucocorticoids being the most commonly used drug class.
SCIENTIFIC REPORTS
(2023)
Article
Clinical Neurology
Anna Maunula, Juha Martola, Sari Atula, Sini M. Laakso, Pentti J. Tienari
Summary: Background and purpose: This study investigates the incidence of radiologically isolated syndrome (RIS) and its subsequent risk for multiple sclerosis (MS) using a large population-based cohort. The results showed that the cumulative incidence of RIS was 0.03%, and the overall risk for MS after RIS was 32%. Individuals under the age of 35.5 years had a significantly higher risk of developing MS (80%) compared to those over 35.5 years (less than 10% risk).
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Genetics & Heredity
Cecily Q. Bernales, Mary Encarnacion, Maria G. Criscuoli, Irene M. Yee, Anthony L. Traboulsee, A. Dessa Sadovnick, Carles Vilarino-Gueell
Article
Clinical Neurology
Anthony L. Traboulsee, Lindsay Machan, J. Marc Girard, Jean Raymond, Reza Vosoughi, Brian W. Hardy, Francois Emond, Jean-Luc Gariepy, Jeffrey N. Bone, Gary Siskin, Darren Klass, Saul Isserow, Judy Illes, A. Dessa Sadovnick, David K. Li
Article
Radiology, Nuclear Medicine & Medical Imaging
Enedino Hernandez-Torres, Vanessa Wiggermann, Lindsay Machan, A. Dessa Sadovnick, David K. B. Li, Anthony Traboulsee, Simon Hametner, Alexander Rauscher
JOURNAL OF MAGNETIC RESONANCE IMAGING
(2019)
Letter
Clinical Neurology
Carles Vilarino-Gueell, Mary Encarnacion, Cecily Q. Bernales, A. Dessa Sadovnick
MULTIPLE SCLEROSIS JOURNAL
(2019)
Article
Genetics & Heredity
Carles Vilarino-Guell, Alexander Zimprich, Filippo Martinelli-Boneschi, Bruno Herculano, Zhe Wang, Fuencisla Matesanz, Elena Urcelay, Koen Vandenbroeck, Laura Leyva, Denis Gris, Charbel Massaad, Jacqueline A. Quandt, Anthony L. Traboulsee, Mary Encarnacion, Cecily Q. Bernales, Jordan Follett, Irene M. Yee, Maria G. Criscuoli, Angela Deutschlander, Eva M. Reinthaler, Tobias Zrzavy, Elisabetta Mascia, Andrea Zauli, Federica Esposito, Antonio Alcina, Guillermo Izquierdo, Laura Espino-Paisan, Jorge Mena, Alfredo Antiguedad, Patricia Urbaneja-Romero, Jesus Ortega-Pinazo, Weihong Song, A. Dessa Sadovnick
Article
Biochemistry & Molecular Biology
Marjan Gharagozloo, Shaimaa Mahmoud, Camille Simard, Kenzo Yamamoto, Diwakar Bobbala, Subburaj Ilangumaran, Matthew D. Smith, Albert Lamontagne, Samir Jarjoura, Jean-Bernard Denault, Veronique Blais, Louis Gendron, Caries Vilarino-Guell, A. Dessa Sadovnick, Jenny P. Ting, Peter A. Calabresi, Abdelaziz Amrani, Denis Gris
Article
Clinical Neurology
A. Dessa Sadovnick, Robert Carruthers, Maria Houtchens, Alice Schabas, Penelope Smyth
CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES
(2020)
Editorial Material
Genetics & Heredity
Mary Encarnacion, Cecily Q. Bernales, Anthony L. Traboulsee, A. Dessa Sadovnick, Carles Vilarino-Guell
PHARMACOGENOMICS JOURNAL
(2019)
Article
Health Care Sciences & Services
M. Ploughman, M. B. Downer, R. W. Pretty, E. M. Wallack, S. Amirkhanian, M. C. Kirkland
QUALITY OF LIFE RESEARCH
(2020)
Article
Genetics & Heredity
Lisa F. Popplewell, Mary Encarnacion, Cecily Q. Bernales, A. Dessa Sadovnick, Anthony L. Traboulsee, Jacqueline A. Quandt, Carles Vilarino-Guell
Article
Clinical Neurology
A. Dessa Sadovnick, Irene M. Yee, Maria Criscuoli, Gabriele C. DeLuca
Summary: The study evaluated the impact of temporal increase of female to male sex ratio on the familial risk for individuals with multiple sclerosis. Genetic sharing and environmental factors were found to both play important roles in determining familial risk. An increase in MS risk due to environmental factors was observed over time, particularly for sisters/brothers of female probands.
MULTIPLE SCLEROSIS JOURNAL
(2022)
Article
Clinical Neurology
Kristen M. Krysko, Annika Anderson, Jessica Singh, Kira McPolin, Alice Rutatangwa, William Rowles, A. Dessa Sadovnick, Maria K. Houtchens, Riley Bove
Summary: The prevalence of peripartum depression in women with multiple sclerosis appears to be similar to the general population, with factors such as older age, primiparity, pre-pregnancy depression, sleep disturbance, and breastfeeding difficulty associated with higher risk. Prospective studies are needed to further explore the impact of peripartum depression on self-management in multiple sclerosis and offspring development.
MULTIPLE SCLEROSIS JOURNAL
(2022)
Article
Clinical Neurology
Dessa Sadovnick, Maria Criscuoli, Irene Yee, Robert Carruthers, Alice Schabas, Virginia Devonshire, Penelope Smyth
Summary: This study found that women with multiple sclerosis (MS) do not have a higher risk of first-trimester miscarriages compared to the general population.
MULTIPLE SCLEROSIS JOURNAL
(2023)
Article
Clinical Neurology
Bridget LaMonica Ostrem, Annika Anderson, Sarah Conway, Brian C. Healy, Jiwon Oh, Dina Jacobs, Ruth Dobson, Edith Larmon Graham, A. Dessa Sadovnick, Vanessa Zimmerman, Yanqing Liu, Riley Bove, Maria Houtchens
Summary: Moderately to severely disabled women with MS have a lower risk of relapse during pregnancy, but a significant increase postpartum. Women with higher preconception EDSS have a greater risk of relapses and disability worsening postpartum.
MULTIPLE SCLEROSIS JOURNAL-EXPERIMENTAL TRANSLATIONAL AND CLINICAL
(2022)
Article
Clinical Neurology
Dessa Sadovnick, Maria Criscuoli, Irene Yee, Robert Carruthers, Alice Schabas, Penelope Smyth
Summary: This prospective real world study aims to gain insight into the various paths to conception that women with MS take, including the use of assisted reproductive technologies and decisions regarding disease modifying therapy. The study highlights the lack of international consensus on managing these women and the importance of providing real world data through studies like CANPREG-MS.
MULTIPLE SCLEROSIS JOURNAL-EXPERIMENTAL TRANSLATIONAL AND CLINICAL
(2021)