Article
Medical Laboratory Technology
Weijiang Jin, Zhengquan Yang, Xiaojun Tang, Xiuchao Wang, Yaxin Huang, Chenmin Hui, Jiaming Yao, Ju Luan, Shaohua Tang, Shengnan Wu, Shengnan Jin, Chunming Ding
Summary: This study reports the MS-CNV method for the quantification of SMN1 and SMN2 gene dosages in spinal muscular atrophy (SMA). The method is accurate and high-throughput, and can be used for carrier screening and genetic diagnosis of SMA.
CLINICA CHIMICA ACTA
(2022)
Review
Biology
Andres Lopez-Cortes, Gabriela Echeverria-Garces, Maria Jose Ramos-Medina
Summary: 5q spinal muscular atrophy is a common pediatric recessive genetic disease, and there have been significant advancements in its treatment. Promising data from early-stage clinical trials suggest that more therapeutic options may be available in the future.
Article
Genetics & Heredity
Yogik Onky Silvana Wijaya, Emma Tabe Eko Niba, Hisahide Nishio, Kentaro Okamoto, Hiroyuki Awano, Toshio Saito, Yasuhiro Takeshima, Masakazu Shinohara
Summary: This study examined the effects of high-concentration ASOs and combining two ASOs on splicing efficiency using SMA fibroblasts. The results showed that low or intermediate concentrations of ASOs had better splicing efficiency, while high concentrations of ASOs resulted in the creation of a cryptic exon.
Review
Biochemistry & Molecular Biology
Matthew E. R. Butchbach
Summary: Spinal muscular atrophy (SMA) is a genetic disease characterized by loss of spinal motor neurons leading to muscle weakness and atrophy. Current therapeutic options for SMA focus on increasing SMN2 expression to increase the amount of SMN protein. Genetic heterogeneity in SMN genes can impact disease phenotype and treatment efficacy.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Genetics & Heredity
Anna Lusakowska, Maria Jedrzejowska, Anna Kaminska, Katarzyna Janiszewska, Przemyslaw Grochowski, Janusz Zimowski, Janusz Sierdzinski, Anna Kostera-Pruszczyk
Summary: This study investigates patients included in the Polish Registry of SMA, focusing on the course of type 3 SMA before the availability of disease-modifying treatments. The results show that SMN2 copy number, sex, and age of disease onset strongly affect the age of onset and ambulation in SMA3. Data from this study can provide valuable information for treatment decisions.
ORPHANET JOURNAL OF RARE DISEASES
(2021)
Article
Genetics & Heredity
Faisal Ibrahim, Dinesh Velayutham, Mohamed Alsharshani, Usama Alalami, Manar Aldewik, Tala Abuarja, Hilal Al Rifai, Nader I. Al-Dewik
Summary: This study examined the carrier frequency and related genetic variations and copy number changes of spinal muscular atrophy (SMA) in the Qatari population. The SMA carrier frequency in Qatar was found to be comparable to Saudi Arabia and Caucasians. The pathogenic risk variant rs121909192 was significantly higher in our study compared to others. Testing for the variant rs143838139 may enhance the precision of evaluating the likelihood of a patient having an affected child.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2023)
Article
Multidisciplinary Sciences
Lisa Belter, Allison Mazzella, Shannon O'Brien, Jill Jarecki
Summary: Spinal muscular atrophy (SMA) is a progressive genetic disease. Knowledge of survival motor neuron (SMN) 2 copy number is important for disease severity assessment. However, a survey showed that the majority of SMA patients and caregivers were not aware of their SMN2 copy numbers. Factors such as engagement with the SMA community, ability to walk, and current age at the time of survey predicted knowledge of SMN2 copy number.
Review
Biochemistry & Molecular Biology
Hisahide Nishio, Emma Tabe Eko Niba, Toshio Saito, Kentaro Okamoto, Yasuhiro Takeshima, Hiroyuki Awano
Summary: Spinal muscular atrophy (SMA) is an autosomal recessive lower motor neuron disease. The genetic homogeneity of SMA was proved in 1990, five years after the identification of the responsible gene, SMN1. Genetic testing has revealed that SMA occurs in 1 of 10,000 to 20,000 live births and more than 95% of affected patients have SMN1 deletion. Nusinersen, onasemnogene abeparvovec, and risdiplam have been approved for SMA treatment, and clinical trials have shown that pre-symptomatic SMA patients can achieve developmental milestones with these drugs.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biotechnology & Applied Microbiology
Mateusz Sypniewski, Dominika Kresa, Paula Dobosz, Piotr Topolski, Lidia Kotula, Pawel Sztromwasser, Magdalena Mroczek
Summary: Spinal muscular atrophy is a severe neuromuscular disorder characterized by autosomal recessive inheritance. The genes SMN1 and SMN2 in the genomic region show high sequence identity and crossing over rate. Traditional methods may not be suitable for analyzing this specific genomic region, but novel bioinformatic algorithms have been developed for this purpose.
JOURNAL OF APPLIED GENETICS
(2023)
Article
Biochemical Research Methods
Zheng Li, Xingye Li, Jianxiong Shen, Haining Tan, Tianhua Rong, Youxi Lin, Erwei Feng, Zhengguang Chen, Yang Jiao, Gang Liu, Lin Zhang, Matthew Tak Vai Chan, William Ka Kei Wu
Summary: Patients with spinal muscular atrophy (SMA) who contract COVID-19 may exhibit mild-to-moderate pneumonia symptoms, which can be relieved by antiviral and supportive treatment. Within a cohort of SMA patients residing in Hubei province, there was a low rate of COVID-19 diagnoses, suggesting a potential genetic influence.
BRIEFINGS IN BIOINFORMATICS
(2021)
Review
Biochemistry & Molecular Biology
Eleonora Zilio, Valentina Piano, Brunhilde Wirth
Summary: This review discusses the impact of spinal muscular atrophy (SMA) on mitochondrial functions in the neuronal and muscular systems, highlighting the potential contribution of mitochondrial defects to disease progression and the potential of restoring mitochondrial functionality as a therapeutic approach. The study also provides a list of transcripts encoding mitochondrial proteins affected in various SMA models and speculates that age-related mitochondrial deterioration may play a crucial role in adult SMA.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Medicine, Research & Experimental
Audrey M. Winkelsas, Christopher Grunseich, George G. Harmison, Katarzyna Chwalenia, Carlo Rinaldi, Suzan M. Hammond, Kory Johnson, Melissa Bowerman, Sukrat Arya, Kevin Talbot, Matthew J. Wood, Kenneth H. Fischbeck
Summary: Research shows that ASOs targeting the 50 end of SMN2 can increase SMN mRNA and protein levels by inhibiting SMN2 mRNA decay. Combining 50 UTR ASO with SSO can elevate SMN levels beyond those achieved with SSO alone, offering a new therapeutic target for SMA.
MOLECULAR THERAPY-NUCLEIC ACIDS
(2021)
Review
Cell Biology
Tejal Aslesh, Toshifumi Yokota
Summary: Spinal muscular atrophy (SMA) is a common genetic neurodegenerative disorder characterized by progressive muscle weakness. The disease is caused by the loss or mutation of the SMN1 gene, with the severity inversely correlated with the number of SMN2 gene copies. Current FDA-approved treatment strategies for SMA aim to increase functional SMN production from the SMN2 gene. Additionally, gene replacement therapy using Onasemnogene abeparvovec has also been approved.
Article
Genetics & Heredity
Bennett O. V. Shum, Ilya Henner, Anita Cairns, Carel Pretorius, Urs Wilgen, Paulette Barahona, Jacobus P. J. Ungerer, Glenn Bennett
Summary: Newborn screening for spinal muscular atrophy (SMA) usually relies on PCR-based assays to detect individuals with homozygous deletion in exon 7 of the SMN1 gene. Previous difficulties in accurately mapping short reads from NGS to SMN1 have hindered the use of NGS for SMA screening. In this study, we integrated an NGS assay with a custom bioinformatics algorithm and reporting software into an existing NBS program, demonstrating high sensitivity and specificity for SMA screening.
FRONTIERS IN GENETICS
(2023)
Article
Pharmacology & Pharmacy
Theodora Markati, Gemma Fisher, Sithara Ramdas, Laurent Servais
Summary: In this review, the authors critically evaluate the role of risdiplam in the treatment of spinal muscular atrophy (SMA). They provide an overview of the current market for SMA, discuss the mechanism of action and pharmacological properties of risdiplam, and present the results from phase 2/3 clinical trials. The authors conclude that risdiplam has shown efficacy and a satisfactory safety profile in pivotal trials for different types of SMA.
EXPERT OPINION ON INVESTIGATIONAL DRUGS
(2022)
Article
Genetics & Heredity
Biruta Kierdaszuk, Magdalena Kaliszewska, Joanna Rusecka, Joanna Kosinska, Ewa Bartnik, Katarzyna Tonska, Anna M. Kaminska, Anna Kostera-Pruszczyk
Summary: This study presented the clinical and genetic characteristics of Polish patients with PEO, analyzing data of 84 patients. Genetic studies of mtDNA and nDNA revealed pathogenic variants in different genes, emphasizing the importance of detailed patients' history and thorough family assessment in the diagnostic process.
Article
Clinical Neurology
Ewa Sobieszczuk, Lukasz Napiorkowski, Piotr Szczudlik, Anna Kostera-Pruszczyk
Summary: This study reveals the significant healthcare burden of MG in Poland, providing valuable insights for resource planning for MG patients.
ACTA NEUROLOGICA SCANDINAVICA
(2022)
Article
Clinical Neurology
Eugenio Mercuri, Nicolas Deconinck, Elena S. Mazzone, Andres Nascimento, Maryam Oskoui, Kayoko Saito, Carole Vuillerot, Giovanni Baranello, Odile Boespflug-Tanguy, Nathalie Goemans, Janbernd Kirschner, Anna Kostera-Pruszczyk, Laurent Servais, Marianne Gerber, Ksenija Gorni, Omar Khwaja, Heidemarie Kletzl, Renata S. Scalco, Hannah Staunton, Wai Yin Yeung, Carmen Martin, Paulo Fontoura, John W. Day
Summary: Risdiplam has shown significant improvement in motor function compared to placebo in patients with type 2 or non-ambulant type 3 spinal muscular atrophy. Motor function generally improved in younger patients and stabilized in older patients.
Article
Computer Science, Information Systems
Jacek Jakubowski, Anna Potulska-Chromik, Kamila Bialek, Monika Nojszewska, Anna Kostera-Pruszczyk
Summary: Facial masking, facial bradykinesia or hypomimia are symptoms of Parkinson's disease that can be used for diagnosis. A study aimed to build an automatic recognition system for Parkinson's disease based on face images, using convolutional networks and image fusion. The results, assessed quantitatively, show promise for early diagnosis, particularly in remote medical examinations.
Article
Clinical Neurology
Sarah P. Sherlock, Jeffrey Palmer, Kathryn R. Wagner, Hoda Z. Abdel-Hamid, Enrico Bertini, Cuixia Tian, Jean K. Mah, Anna Kostera-Pruszczyk, Francesco Muntoni, Michela Guglieri, John F. Brandsema, Eugenio Mercuri, Russell J. Butterfield, Craig M. McDonald, Lawrence Charnas, Shannon Marraffino
Summary: Quantitative MRI measurements can serve as sensitive and objective biomarkers for evaluating disease progression and functional changes in boys with DMD.
JOURNAL OF NEUROLOGY
(2022)
Article
Clinical Neurology
Arnaud Jacquier, Valerie Risson, Thomas Simonet, Florine Roussange, Nicolas Lacoste, Shams Ribault, Julien Carras, Julian Theuriet, Emmanuelle Girard, Isabelle Grosjean, Laure Le Goff, Stephan Kroger, Julia Meltoranta, Stephanie Bauche, Damien Sternberg, Emmanuel Fournier, Anna Kostera-Pruszczyk, Emily O'Connor, Bruno Eymard, Hanns Lochmuller, Cecile Martinat, Laurent Schaeffer
Summary: This study identified mutations in the AGRN gene that lead to the accumulation of agrin in motoneurons and result in congenital myasthenic syndromes. Interestingly, mutant agrin is still able to trigger the formation of AChR clusters when secreted.
ACTA NEUROPATHOLOGICA
(2022)
Article
Clinical Neurology
Katarzyna Kotulska, Dariusz Chmielewski, Maria Mazurkiewicz-Beldzinska, Katarzyna Tomaszek, Katarzyna Pierzchlewicz, Daniel Rabczenko, Lukasz Przyslo, Agnieszka Biedro, Elzbieta Czyzyk, Barbara Steinborn, Jerzy Pietruszewski, Leszek Bockowski, Dorota Cichosz, Magdalena Dudzinska, Elzbieta Gadowska, Elzbieta Mlynarczyk, Miroslaw Jasinski, Anna Masztalerz, Agnieszka Kempisty, Anna Kostera-Pruszczyk
Summary: This study reviewed the safety, tolerability, and efficacy data of a nusinersen treatment program in Polish children with spinal muscular atrophy (SMA). The results showed that nusinersen treatment was effective and well tolerated by patients regardless of their age, baseline functional status, or the number of SMN2 gene copies.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
(2022)
Article
Clinical Neurology
Marianela Schiava, Chiseko Ikenaga, Rocio Nur Villar-Quiles, Marta Caballero-Avila, Ana Topf, Ichizo Nishino, Virginia Kimonis, Bjarne Udd, Benedikt Schoser, Edmar Zanoteli, Paulo Victor Sgobbi Souza, Giorgio Tasca, Thomas Lloyd, Adolfo Lopez-de Munain, Carmen Paradas, Elena Pegoraro, Aleksandra Nadaj-Pakleza, Jan De Bleecker, Umesh Badrising, Alicia Alonso-Jimenez, Anna Kostera-Pruszczyk, Francesc Miralles, Jin-Hong Shin, Jorge Alfredo Bevilacqua, Montse Olive, Matthias Vorgerd, Rudi Kley, Stefen Brady, Timothy Williams, Cristina Dominguez-Gonzalez, George K. Papadimas, Jodi Warman, Kristl G. Claeys, Marianne de Visser, Nuria Muelas, Pascal LaForet, Edoardo Malfatti, Lindsay N. Alfano, Sruthi S. Nair, Georgios Manousakis, Hani A. Kushlaf, Matthew B. Harms, Christopher Nance, Alba Ramos-Fransi, Carmelo Rodolico, Channa Hewamadduma, Hakan Cetin, Jorge Garcia-Garcia, Endre Pal, Maria Elena Farrugia, Phillipa J. Lamont, Colin Quinn, Velina Nedkova-Hristova, Stojan Peric, Sushan Luo, Anders Oldfors, Kate Taylor, Stuart Ralston, Tanya Stojkovic, Conrad Weihl, Jordi Diaz-Manera
Summary: This study characterized patients with VCP gene mutations and investigated genotype-phenotype correlations, finding common symptoms and genetic variants. Specific genetic variants showed trends in affecting age of onset and severity. Additionally, the study provided valuable information on disease progression risk factors.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2022)
Review
Clinical Neurology
Andreas Meisel, Fulvio Baggi, Anthony Behin, Amelia Evoli, Anna Kostera-Pruszczyk, Renato Mantegazza, Raul Juntas Morales, Anna Rostedt Punga, Sabrina Sacconi, Michael Schroeter, Jan Verschuuren, Louise Crathorne, Kris Holmes, Maria-Isabel Leite
Summary: This study examined the relationship between autoantibody levels and disease activity in patients with myasthenia gravis (MG). The results indicated a potential positive correlation, which could have clinical implications in guiding treatment decisions. However, due to limited and variable evidence, routine clinical use of autoantibody level testing is not currently recommended.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Vera Bril, Andrzej Szczudlik, Antanas Vaitkus, Csilla Rozsa, Anna Kostera-Pruszczyk, Petr Hon, Josef Bednarik, Michaela Tyblova, Wolfgang Koehler, Toomas Toomsoo, Richard J. Nowak, Tahseen Mozaffar, Miriam L. Freimer, Michael W. Nicolle, Tim Magnus, Michael T. Pulley, Michael Rivner, Mazen M. Dimachkie, B. Jane Distad, Robert M. Pascuzzi, Donna Babiar, Jiang Lin, Montse Querolt Coll, Rhonda Griffin, Elsa Mondou
Summary: This study aimed to determine whether immune globulin (human), 10% caprylate/chromatography purified (IGIV-C) could facilitate corticosteroid (CS) dose reduction in CS dependent patients with myasthenia gravis (MG). The results showed that IGIV-C was not more effective than placebo in reducing daily CS dose.
Review
Clinical Neurology
Aleksandra Jastrzebska, Anna Kostera-Pruszczyk
Summary: Pompe disease is a rare genetic disorder characterized by glycogen accumulation in body tissues. Late onset Pompe disease (LOPD) typically manifests after 12 months of age and is underdiagnosed in the Polish population. Early diagnosis and a multidisciplinary approach are crucial in reducing complications and improving prognosis for LOPD patients.
NEUROLOGIA I NEUROCHIRURGIA POLSKA
(2023)
Article
Neurosciences
Aleksandra Golenia, Antoni Ferens, Anna Kolasa, Aleksandra Ignatiuk, Anna Kostera-Pruszczyk
Summary: Transient global amnesia is a benign syndrome characterized by sudden onset anterograde amnesia with complete recovery. Magnetic resonance imaging of the brain has revealed the presence of punctate hyperintense signal abnormalities in the hippocampus of patients with transient global amnesia. This study analyzed the presence of hippocampal lesions in 38 patients with transient global amnesia and evaluated the influence of additional factors. The results showed that about 50% of patients had hippocampal lesions, with most lesions located in the CA1 subfield.
JOURNAL OF STROKE & CEREBROVASCULAR DISEASES
(2023)
Article
Health Care Sciences & Services
Dominika Krupa, Marcin Czech, Ewa Chudzynska, Beata Kon, Anna Kostera-Pruszczyk
Summary: This study compares patient cohorts born in 2014 and 2019 and finds that the introduction of Nusinersen in Poland has significantly reduced mortality in SMA patients born in 2019 during the early years. Additionally, the study describes the patient population treated with Nusinersen and the costs incurred by the public payer.
Article
Clinical Neurology
Edyta Maj, Tomasz Wolak, Joanna de Meulder, Katarzyna Janiszewska, Mikolaj Wojtaszek, Anna Kostera-Pruszczyk, Marek Golebiowski, Anna Lusakowska
Summary: This study aimed to compare DTI parameters in patients with DM1 and DM2, and the results revealed diffuse disintegration of white matter pathways in DM patients, especially in the DM1 group. These findings provide a better understanding of brain structural changes in DM patients and may contribute to the development of more effective treatments for the disorder.
NEUROLOGIA I NEUROCHIRURGIA POLSKA
(2023)
Article
Genetics & Heredity
Anna Lusakowska, Adrianna Wojcik, Anna Fraczek, Karolina Aragon-Gawinska, Anna Potulska-Chromik, Pawel Baranowski, Ryszard Nowak, Grzegorz Rosiak, Krzysztof Milczarek, Dariusz Konecki, Zuzanna Gierlak-Wojcicka, Malgorzata Burlewicz, Anna Kostera-Pruszczyk
Summary: This study reports on the effectiveness and safety of Nusinersen treatment in 120 adults and older children with SMA types 1c-3. The results showed continuous functional improvement over a 30-month follow-up, indicating the potential of Nusinersen as a treatment for SMA.
ORPHANET JOURNAL OF RARE DISEASES
(2023)
