Comparison of the accuracy of multiplex digital PCR versus multiplex ligation-dependent probe amplification in quantification of the survival of motor neuron genes copy numbers
This study aimed to compare MLPA and dPCR in quantifying SMN1 and SMN2 CNs, identify reasons for observed discrepancies, and explore the clinical implications of false results. A total of 733 DNA samples, previously subjected to MLPA analysis, were tested using multiplex droplet dPCR assays. Samples exhibiting inconsistent results between the two methods underwent repeated dPCR assays. When inconsistencies persisted, a third method was employed for verification. Digital PCR yielded results consistent with those of MLPA in 94.4% (692/733) of samples. Forty-one cases exhibited quantitative disparities in SMN1 and/or SMN2 CNs...
Source: International Journal of Clinical Chemistry - December 14, 2023 Category: Chemistry Authors: Yu Jiang Zhongmin Xia Yulin Zhou Xingxiu Lu Xiaohan Du Qiwei Guo Source Type: research
Comparison of the accuracy of multiplex digital PCR versus multiplex ligation-dependent probe amplification in quantification of the survival of motor neuron genes copy numbers
This study aimed to compare MLPA and dPCR in quantifying SMN1 and SMN2 CNs, identify reasons for observed discrepancies, and explore the clinical implications of false results. A total of 733 DNA samples, previously subjected to MLPA analysis, were tested using multiplex droplet dPCR assays. Samples exhibiting inconsistent results between the two methods underwent repeated dPCR assays. When inconsistencies persisted, a third method was employed for verification. Digital PCR yielded results consistent with those of MLPA in 94.4% (692/733) of samples. Forty-one cases exhibited quantitative disparities in SMN1 and/or SMN2 CNs...
Source: International Journal of Clinical Chemistry - December 14, 2023 Category: Chemistry Authors: Yu Jiang Zhongmin Xia Yulin Zhou Xingxiu Lu Xiaohan Du Qiwei Guo Source Type: research
Genes, Vol. 14, Pages 2211: Newborn Screening for Spinal Muscular Atrophy: A 2.5-Year Experience in Hyogo Prefecture, Japan
We report the findings of the initial 2.5 years of a pilot SMA-NBS of approximately 16,000 infants conducted from February 2021 in Hyogo Prefecture, Japan. Clinical data of 17 infants who tested positive were retrospectively obtained from the NBS follow-up centers participating in this multicenter cohort observational study. Genetic testing revealed 14 false positives, and three infants were diagnosed with SMA. Case 1 had two copies of survival motor neuron (SMN) 2 and showed SMA-related symptoms at diagnosis. Case 2 was asymptomatic, with two copies of SMN2. Asymptomatic case 3 had four copies of SMN2 exon 7, including th...
Source: Genes - December 14, 2023 Category: Genetics & Stem Cells Authors: Shoko Sonehara Ryosuke Bo Yoshinori Nambu Kiiko Iketani Tomoko Lee Hideki Shimomura Masaaki Ueda Yasuhiro Takeshima Kazumoto Iijima Kandai Nozu Hisahide Nishio Hiroyuki Awano Tags: Article Source Type: research
Pregnancy experience in women with spinal muscular atrophy: a case series
This report shows that a successful pregnancy is possible in female patients with SMA. However, the ideal approach should involve a standardized multidisciplinary team capable of effectively addressing every possible scenario. For this reason, it is critically important that clinicians working with SMA patients gain more in-dept knowledge about this topic.PMID:38090543 | PMC:PMC10712658 | DOI:10.36185/2532-1900-316 (Source: Acta Myologica)
Source: Acta Myologica - December 13, 2023 Category: Neurology Authors: Roberta Piera Bencivenga Dario Zoppi Anna Russo Emanuele Cassano Stefano Tozza Rosa Iodice Raffaele Dubbioso Fiore Manganelli Lucia Ruggiero Source Type: research
Proposal of a new clinical protocol for evaluating fatigability in adult SMA patients
CONCLUSIONS: The endurance evaluation should integrate the standard clinical monitoring in the management and follow-up of SMA adult patients.PMID:38090548 | PMC:PMC10712654 | DOI:10.36185/2532-1900-330 (Source: Acta Myologica)
Source: Acta Myologica - December 13, 2023 Category: Neurology Authors: Giulia Ricci Francesca Torri Alessandra Govoni Roberto Chiappini Laura Manca Gabriele Vadi Stefano Roccella Francesca Magri Megi Meneri Federica Fassini Veria Vacchiano Silvia Tomassini Noemi Gironella Michela Coccia Giacomo Comi Rocco Liguori Gabriele Si Source Type: research
Brain-derived neurotrophic factor/tropomyosin receptor kinase B signaling in spinal muscular atrophy and amyotrophic lateral sclerosis
Neurobiol Dis. 2023 Dec 11:106377. doi: 10.1016/j.nbd.2023.106377. Online ahead of print.ABSTRACTTropomyosin receptor kinase B (TrkB) and its primary ligand brain-derived neurotrophic factor (BDNF) are expressed in the neuromuscular system, where they affect neuronal survival, differentiation, and functions. Changes in BDNF levels and full-length TrkB (TrkB-FL) signaling have been revealed in spinal muscular atrophy (SMA) and amyotrophic lateral sclerosis (ALS), two common forms of motor neuron diseases that are characterized by defective neuromuscular junctions in early disease stages and subsequently progressive muscle w...
Source: Neurobiology of Disease - December 13, 2023 Category: Neurology Authors: Chunchu Deng Hong Chen Source Type: research
Pregnancy experience in women with spinal muscular atrophy: a case series
This report shows that a successful pregnancy is possible in female patients with SMA. However, the ideal approach should involve a standardized multidisciplinary team capable of effectively addressing every possible scenario. For this reason, it is critically important that clinicians working with SMA patients gain more in-dept knowledge about this topic.PMID:38090543 | PMC:PMC10712658 | DOI:10.36185/2532-1900-316 (Source: Acta Myologica)
Source: Acta Myologica - December 13, 2023 Category: Neurology Authors: Roberta Piera Bencivenga Dario Zoppi Anna Russo Emanuele Cassano Stefano Tozza Rosa Iodice Raffaele Dubbioso Fiore Manganelli Lucia Ruggiero Source Type: research
Proposal of a new clinical protocol for evaluating fatigability in adult SMA patients
CONCLUSIONS: The endurance evaluation should integrate the standard clinical monitoring in the management and follow-up of SMA adult patients.PMID:38090548 | PMC:PMC10712654 | DOI:10.36185/2532-1900-330 (Source: Acta Myologica)
Source: Acta Myologica - December 13, 2023 Category: Neurology Authors: Giulia Ricci Francesca Torri Alessandra Govoni Roberto Chiappini Laura Manca Gabriele Vadi Stefano Roccella Francesca Magri Megi Meneri Federica Fassini Veria Vacchiano Silvia Tomassini Noemi Gironella Michela Coccia Giacomo Comi Rocco Liguori Gabriele Si Source Type: research
Brain-derived neurotrophic factor/tropomyosin receptor kinase B signaling in spinal muscular atrophy and amyotrophic lateral sclerosis
Neurobiol Dis. 2023 Dec 11:106377. doi: 10.1016/j.nbd.2023.106377. Online ahead of print.ABSTRACTTropomyosin receptor kinase B (TrkB) and its primary ligand brain-derived neurotrophic factor (BDNF) are expressed in the neuromuscular system, where they affect neuronal survival, differentiation, and functions. Changes in BDNF levels and full-length TrkB (TrkB-FL) signaling have been revealed in spinal muscular atrophy (SMA) and amyotrophic lateral sclerosis (ALS), two common forms of motor neuron diseases that are characterized by defective neuromuscular junctions in early disease stages and subsequently progressive muscle w...
Source: Neurobiology of Disease - December 13, 2023 Category: Neurology Authors: Chunchu Deng Hong Chen Source Type: research
Proposal of a new clinical protocol for evaluating fatigability in adult SMA patients
CONCLUSIONS: The endurance evaluation should integrate the standard clinical monitoring in the management and follow-up of SMA adult patients.PMID:38090548 | PMC:PMC10712654 | DOI:10.36185/2532-1900-330 (Source: Acta Myologica)
Source: Acta Myologica - December 13, 2023 Category: Neurology Authors: Giulia Ricci Francesca Torri Alessandra Govoni Roberto Chiappini Laura Manca Gabriele Vadi Stefano Roccella Francesca Magri Megi Meneri Federica Fassini Veria Vacchiano Silvia Tomassini Noemi Gironella Michela Coccia Giacomo Comi Rocco Liguori Gabriele Si Source Type: research
Pregnancy experience in women with spinal muscular atrophy: a case series
This report shows that a successful pregnancy is possible in female patients with SMA. However, the ideal approach should involve a standardized multidisciplinary team capable of effectively addressing every possible scenario. For this reason, it is critically important that clinicians working with SMA patients gain more in-dept knowledge about this topic.PMID:38090543 | PMC:PMC10712658 | DOI:10.36185/2532-1900-316 (Source: Acta Myologica)
Source: Acta Myologica - December 13, 2023 Category: Neurology Authors: Roberta Piera Bencivenga Dario Zoppi Anna Russo Emanuele Cassano Stefano Tozza Rosa Iodice Raffaele Dubbioso Fiore Manganelli Lucia Ruggiero Source Type: research
Proposal of a new clinical protocol for evaluating fatigability in adult SMA patients
CONCLUSIONS: The endurance evaluation should integrate the standard clinical monitoring in the management and follow-up of SMA adult patients.PMID:38090548 | PMC:PMC10712654 | DOI:10.36185/2532-1900-330 (Source: Acta Myologica)
Source: Acta Myologica - December 13, 2023 Category: Neurology Authors: Giulia Ricci Francesca Torri Alessandra Govoni Roberto Chiappini Laura Manca Gabriele Vadi Stefano Roccella Francesca Magri Megi Meneri Federica Fassini Veria Vacchiano Silvia Tomassini Noemi Gironella Michela Coccia Giacomo Comi Rocco Liguori Gabriele Si Source Type: research
Pregnancy experience in women with spinal muscular atrophy: a case series
This report shows that a successful pregnancy is possible in female patients with SMA. However, the ideal approach should involve a standardized multidisciplinary team capable of effectively addressing every possible scenario. For this reason, it is critically important that clinicians working with SMA patients gain more in-dept knowledge about this topic.PMID:38090543 | PMC:PMC10712658 | DOI:10.36185/2532-1900-316 (Source: Acta Myologica)
Source: Acta Myologica - December 13, 2023 Category: Neurology Authors: Roberta Piera Bencivenga Dario Zoppi Anna Russo Emanuele Cassano Stefano Tozza Rosa Iodice Raffaele Dubbioso Fiore Manganelli Lucia Ruggiero Source Type: research
