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)
Article
Clinical Neurology
P. V. S. Souza, W. B. V. R. Pinto, A. Ricarte, B. M. L. Badia, D. D. Seneor, D. T. Teixeira, L. Caetano, E. A. Goncalves, M. A. T. Chieia, I. B. Farias, E. Bertini, A. S. B. Oliveira
Summary: This study identified a cohort of 20 patients with SMA type 4 in a Brazilian cohort of 227 SMA patients. The most common clinical symptom was limb-girdle muscle weakness, with absent tendon reflexes in 90% of patients and fasciculations in 45% of patients. The majority of patients (80%) had the homozygous deletion of exon 7 in the SMN1 gene, with 60% of them showing four copies of the SMN2 gene.
EUROPEAN JOURNAL OF NEUROLOGY
(2021)
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.
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
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
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
Clinical Neurology
Chaoping Hu, Xihua Li, Yiyun Shi, Xiaomei Zhu, Lei Zhao, Wenhui Li, Shuizhen Zhou, Yi Wang
Summary: This study provides insight into the comprehensive management and profile of different types of SMA patients in China, highlighting the importance of higher SMN2 copies for better survival and ambulation preservation. Patients receiving regular rehabilitation may have better joint function preservation.
FRONTIERS IN NEUROLOGY
(2022)
Article
Clinical Neurology
Angela Pereira, Nataliya Tkachenko, Ana Maria Fortuna, Isabel Alonso, Marcio Cardoso, Jorge Diogo Da Silva
Summary: This article describes a 68-year-old female patient with progressive muscular atrophy (PMA) who exhibited progressive and asymmetric upper-limb weakness, muscle atrophy, dysphagia, and slurring of speech over an 18-month period. Genetic testing revealed a pathogenic monoallelic variant c.1529C>T, p.(Ala510Val) in the SPG7 gene. This is the first reported case of PMA associated with a monoallelic SPG7 mutation.
NEUROLOGICAL SCIENCES
(2023)
Review
Biochemistry & Molecular Biology
Mar Costa-Roger, Laura Blasco-Perez, Ivon Cusco, Eduardo F. Tizzano
Summary: Comprehensive study of the SMN1 and SMN2 genes is crucial for better prediction of SMA in positive neonatal screening cases and early diagnosis to start treatments.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Neurosciences
Giulietta M. M. Riboldi, Irene Faravelli, Paola Rinchetti, Francesco Lotti
Summary: Since its identification as the gene responsible for SMA, the functions of the SMN protein have expanded to include roles in RNA processing pathways, mRNA trafficking and translation, axonal transport, endocytosis, and mitochondria metabolism. The SMN complex's activities are regulated by various processes, with post-translational modifications (PTMs) emerging as important regulators. PTMs, such as phosphorylation, methylation, ubiquitination, acetylation, and sumoylation, modulate the pleiotropic functions of the SMN complex. This overview focuses on the PTMs involved in regulating the SMN complex and their implications in SMA pathogenesis.
FRONTIERS IN CELLULAR NEUROSCIENCE
(2023)
Article
Biochemistry & Molecular Biology
Mengyao Dai, Yan Xu, Yu Sun, Bing Xiao, Xiaomin Ying, Yu Liu, Wenting Jiang, Jingmin Zhang, Xiaoqing Liu, Xing Ji
Summary: This study examined the alternative splicing patterns and transcript variants of the survival of motor neuron (SMN) genes using long-read sequencing. A total of 36 transcript variants were identified, including 18 novel variants. The study revealed that the structures of SMN transcripts are more complex and diverse than previously known, and identified differences in the distribution of transcripts between SMN1 and SMN2. The findings provide valuable information for studying low expression levels of SMN proteins and the pathogenesis of spinal muscular atrophy (SMA) at the transcript level.
MOLECULAR GENETICS AND GENOMICS
(2022)
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)
Article
Neurosciences
Emily J. Reedich, Martin Kalski, Nicholas Armijo, Gregory A. Cox, Christine J. DiDonato
Summary: Spinal muscular atrophy (SMA) is a neuromuscular disease caused by genetic deficiency of the SMN protein. Studies have shown activation of the p53 and p21 pathways in SMA mice, but they are not primary drivers of motor neuron death in milder SMA mouse models like Smn(2B/-).
EXPERIMENTAL NEUROLOGY
(2021)
Review
Biochemistry & Molecular Biology
Rachel James, Helena Chaytow, Leire M. Ledahawsky, Thomas H. Gillingwater
Summary: SMA is an autosomal recessive motor neuron disease caused by mutations in the SMN1 gene. The development of combinatorial therapies for SMA is necessary, with mitochondria being a relevant target for such therapies. Understanding mitochondrial dysfunction in SMA may lead to the development of targeted mitochondrial therapies with potential benefits for other motor neuron diseases and neurodegenerative disorders.
CELLULAR AND MOLECULAR LIFE SCIENCES
(2021)
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
Clinical Neurology
Magdalena Kuzma-Kozakiewicz, Peter M. Andersen, Elahe Elahi, Afagh Alavi, Peter C. Sapp, Mitsuya Morita, Cezary Zekanowski, Mariusz Berdynski
Summary: Mutations in the SOD1 gene account for a significant portion of familial and sporadic ALS cases. The L144S mutation is associated with diverse clinical presentations but is relatively common in Polish ALS patients. The study suggests a common founder for the L144S mutation in different populations, with high variability in penetrance.
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION
(2021)
Article
Clinical Neurology
Hilmi Uysal, Ugur Bilge, Nevruz Ilhanli, Marta Gromicho, Julian Grosskreutz, Magdalena Kuzma-Kozakiewicz, Susana Pinto, Susanne Petri, Katarzyna Szacka, Krzysztof Nieporecki, Mamede De Carvalho
Summary: The study shows that ALS does not negatively impact the fertility of patients. ALS patients had more children than controls, supporting the view that there is no negative selection pressure on the patient population's fertility.
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION
(2021)
Article
Clinical Neurology
Beata Chelstowska, Anna Baranczyk-Kuzma, Magdalena Kuzma-Kozakiewicz
Summary: The study analyzed the frequency and type of dyslipidemias in a large population of clinically characterized ALS patients. The results showed that dyslipidemia occurred more frequently in PALS compared to controls, with hypercholesterolemia being the most common, but lipid parameters did not show strong correlations with disease progression rate.
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION
(2021)
Article
Clinical Neurology
Peter M. Andersen, Magdalena Kuzma-Kozakiewicz, Juergen Keller, Anna Maksymowicz-Sliwinska, Krzysztof Barc, Krzysztof Nieporecki, Julia Finsel, Cynthia Vazquez, Olga Helczyk, Katharina Linse, Ann-Cristin Haggstrom, Erica Stenberg, Olof Semb, Katarzyna Ciecwierska, Natalia Szejko, Ingo Uttner, Andreas Herrmann, Susanne Petri, Thomas Meyer, Albert C. Ludolph, Dorothee Lule
Summary: The study found that caregivers significantly underestimated patients' well-being in Germany and Poland. In Sweden, there were just as many caregivers who underestimated and overestimated well-being. Despite cultural differences, there was a clear discrepancy between patients' and caregivers' perspectives on patients' well-being and preferences towards life.
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION
(2022)
Article
Clinical Neurology
Jan Sznajder, Krzysztof Barc, Magdalena Kuzma-Kozakiewicz
Summary: This study describes the prevalence and pattern of physical activity (PA) in ALS patients, and explores patients' attitude towards PA. The results show that the majority of patients perform regular exercise and find it positively influence their motor performance and mood. Bulbar disease onset is a negative prognostic factor for regular exercise.
NEUROREHABILITATION
(2022)
Article
Multidisciplinary Sciences
Mariusz Berdynski, Przemyslaw Miszta, Krzysztof Safranow, Peter M. Andersen, Mitsuya Morita, Slawomir Filipek, Cezary Zekanowski, Magdalena Kuzma-Kozakiewicz
Summary: The study investigated the relations between SOD1 mutations and clinical presentation in ALS patients, identifying significant correlations between SOD1 mutations and clinical phenotype as well as associations between different types of mutations and clinical outcomes.
SCIENTIFIC REPORTS
(2022)
Article
Clinical Neurology
Nora Hertel, Magdalena Kuzma-Kozakiewicz, Marta Gromicho, Julian Grosskreutz, Mamede de Carvalho, Hilmi Uysal, Reinhard Dengler, Susanne Petri, Sonja Koerner
Summary: This study aimed to investigate the correlations between routine blood parameters and disease severity, progression rate, and survival in ALS patients. The results suggest that CK, ALB, CREA, and HDL may serve as potential markers for disease severity or progression, and may provide insights into ALS pathogenesis.
FRONTIERS IN NEUROLOGY
(2022)
Review
Clinical Neurology
Edyta Maj, Milosz Jamrozy, Maksymilian Bielecki, Marta Bartoszek, Marek Golebiowski, Mikolaj Wojtaszek, Magdalena Kuzma-Kozakiewicz
Summary: The aim of this study was to identify the optimal set of DTI parameters to support the diagnosis of ALS that could be applied to everyday MRI and be used as a disease biomarker in daily practice. The study found that fractional anisotropy (FA) measured at the level of the brainstem was the most relevant parameter in differentiating ALS patients from healthy subjects.
NEUROLOGIA I NEUROCHIRURGIA POLSKA
(2022)
Article
Clinical Neurology
Anna Maksymowicz-Sliwinska, Dorothee Lule, Krzysztof Nieporecki, Katarzyna Ciecwierska, Albert C. C. Ludolph, Magdalena Kuzma-Kozakiewicz
Summary: This study analyzed the quality of life and frequency of depression in primary caregivers of patients with amyotrophic lateral sclerosis (ALS) in two neighboring European countries. The results showed that the caregivers' quality of life was influenced by the functional and behavioral status of the patient, disease duration, and caregivers' depression. The most affected domains of quality of life varied depending on the country of origin, cultural background, and social support of the caregivers. Depression was present in one-third of the caregivers, with a higher frequency in the Polish group. It was positively correlated with female gender, disease duration, sleep disturbances, and functional decline. Both quality of life and mood were significantly lower in caregivers with a heavier burden of functional care.
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION
(2023)
Article
Clinical Neurology
Catarina Falcao de Campos, Marta Gromicho, Hilmi Uysal, Julian Grosskreutz, Magdalena Kuzma-Kozakiewicz, Miguel Oliveira Santos, Susana Pinto, Susanne Petri, Michael Swash, Mamede de Carvalho
Summary: This study analyzed the diagnostic pathway of ALS patients from different countries to identify the major challenges. The results showed that early diagnosis of ALS is difficult, but patients who were evaluated by a neurologist earlier and underwent electromyography had a higher probability of being diagnosed with ALS.
FRONTIERS IN NEUROLOGY
(2023)
Article
Clinical Neurology
Krzysztof Barc, Dorothee Lule, Julia Finsel, Olga Helczyk, Susanne Baader, Helena Aho-Oezhan, Albert C. Ludolph, Magdalena Kuzma-Kozakiewicz
Summary: Neurologists' perception of well-being in ALS patients receiving medical interventions (MIs) such as PEG, NIV, and IV is influenced by demographic factors, professional experience, and potentially cultural background. This perception plays a role in the timing of MIs discussion and may influence decision-making process.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2022)
Article
Health Care Sciences & Services
Katarzyna Ciecwierska, Dorothee Lule, Olga Helczyk, Krzysztof Nieporecki, Maksymilian Bielecki, Susanne Baader, Albert C. Ludolph, Magdalena Kuzma-Kozakiewicz
Summary: This study aimed to analyze religiosity and its correlations with clinical, psychological, and socio-demographic factors in ALS patients and controls from two European countries with different cultural backgrounds. The results showed that religiosity was linked to cultural background rather than ALS and did not correlate with disease-associated factors.
QUALITY OF LIFE RESEARCH
(2023)
Article
Clinical Neurology
Julia Finsel, Ivar Winroth, Katarzyna Ciecwierska, Olga Helczyk, Erica A. Stenberg, Ann-Christin Haggstrom, Albert C. Ludolph, Ingo Uttner, Olof Semb, Beata Pilczuk, Natalia Szejko, Simona Rosentul, Dorothee Lule, Magdalena Kuzma-Kozakiewicz, Peter M. Andersen
Summary: This study evaluated cognitive performance on the national versions of the Swedish and Polish ECAS and compared it with three European translations of the test. The results showed that age and years of education were associated with performance on the ECAS, and there were differences in cognitive performance between populations from different countries. These findings highlight the importance of considering background factors when comparing cognition data across patient populations.
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION
(2023)
Article
Health Care Sciences & Services
Katarzyna Ciecwierska, Dorothee Lule, Maksymilian Bielecki, Olga Helczyk, Anna Maksymowicz-Sliwinska, Julia Finsel, Krzysztof Nieporecki, Peter M. M. Andersen, Albert C. C. Ludolph, Magdalena Kuzma-Kozakiewicz
Summary: This study aimed to assess the factors influencing the quality of life and depression in ALS patients compared to healthy controls. The results showed that ALS patients have lower quality of life and mood compared to healthy individuals. These findings suggest that clinical and demographic factors are influenced by the country of origin, which has implications for the design and interpretation of scientific and clinical studies.
BMC PALLIATIVE CARE
(2023)
Article
Veterinary Sciences
Joanna B. Finstad, Edward Cooper, Soscha C. Ten cate, Ten Cate, Page Yaxley, Jiwoong Her, Julien Guillaumin
Summary: This study utilized infrared thermography to evaluate local temperature differences in dogs with small intestinal foreign body obstruction. The results showed a significant decrease in surface temperature at the site of obstruction after surgical resolution, and different foreign body materials led to changes in the surface temperature of the oral small intestine segment. This study suggests that infrared thermography may be a useful diagnostic modality to assess temperature changes associated with small intestinal foreign body obstruction.
AMERICAN JOURNAL OF VETERINARY RESEARCH
(2023)
