Plastic Spinal Motor Circuits in Health and Disease
J Integr Neurosci. 2023 Nov 23;22(6):167. doi: 10.31083/j.jin2206167.ABSTRACTIn the past, the spinal cord was considered a hard-wired network responsible for spinal reflexes and a conduit for long-range connections. This view has changed dramatically over the past few decades. It is now recognized as a plastic structure that has the potential to adapt to changing environments. While such changes occur under physiological conditions, the most dramatic alterations take place in response to pathological events. Many of the changes that occur following such pathological events are maladaptive, but some appear to help adapt to ...
Source: Journal of Integrative Neuroscience - January 4, 2024 Category: Neuroscience Authors: Uwe Windhorst Payam Dibaj Source Type: research
Plastic Spinal Motor Circuits in Health and Disease
J Integr Neurosci. 2023 Nov 23;22(6):167. doi: 10.31083/j.jin2206167.ABSTRACTIn the past, the spinal cord was considered a hard-wired network responsible for spinal reflexes and a conduit for long-range connections. This view has changed dramatically over the past few decades. It is now recognized as a plastic structure that has the potential to adapt to changing environments. While such changes occur under physiological conditions, the most dramatic alterations take place in response to pathological events. Many of the changes that occur following such pathological events are maladaptive, but some appear to help adapt to ...
Source: Journal of Integrative Neuroscience - January 4, 2024 Category: Neuroscience Authors: Uwe Windhorst Payam Dibaj Source Type: research
Plastic Spinal Motor Circuits in Health and Disease
J Integr Neurosci. 2023 Nov 23;22(6):167. doi: 10.31083/j.jin2206167.ABSTRACTIn the past, the spinal cord was considered a hard-wired network responsible for spinal reflexes and a conduit for long-range connections. This view has changed dramatically over the past few decades. It is now recognized as a plastic structure that has the potential to adapt to changing environments. While such changes occur under physiological conditions, the most dramatic alterations take place in response to pathological events. Many of the changes that occur following such pathological events are maladaptive, but some appear to help adapt to ...
Source: Journal of Integrative Neuroscience - January 4, 2024 Category: Neuroscience Authors: Uwe Windhorst Payam Dibaj Source Type: research
Plastic Spinal Motor Circuits in Health and Disease
J Integr Neurosci. 2023 Nov 23;22(6):167. doi: 10.31083/j.jin2206167.ABSTRACTIn the past, the spinal cord was considered a hard-wired network responsible for spinal reflexes and a conduit for long-range connections. This view has changed dramatically over the past few decades. It is now recognized as a plastic structure that has the potential to adapt to changing environments. While such changes occur under physiological conditions, the most dramatic alterations take place in response to pathological events. Many of the changes that occur following such pathological events are maladaptive, but some appear to help adapt to ...
Source: Journal of Integrative Neuroscience - January 4, 2024 Category: Neuroscience Authors: Uwe Windhorst Payam Dibaj Source Type: research
Plastic Spinal Motor Circuits in Health and Disease
J Integr Neurosci. 2023 Nov 23;22(6):167. doi: 10.31083/j.jin2206167.ABSTRACTIn the past, the spinal cord was considered a hard-wired network responsible for spinal reflexes and a conduit for long-range connections. This view has changed dramatically over the past few decades. It is now recognized as a plastic structure that has the potential to adapt to changing environments. While such changes occur under physiological conditions, the most dramatic alterations take place in response to pathological events. Many of the changes that occur following such pathological events are maladaptive, but some appear to help adapt to ...
Source: Journal of Integrative Neuroscience - January 4, 2024 Category: Neuroscience Authors: Uwe Windhorst Payam Dibaj Source Type: research
Preconception or prenatal acceptance of SMN1 gene carrier screening and carrier rate of spinal muscular atrophy: a retrospective study in 18,818 reproductive age women in Wuhan area of China
ConclusionReproductive age women and their spouses in Wuhan area showed a positive attitude toward general screening for SMA carriers. Given the high early mortality of children with SMA, screening for SMA carriers in women of reproductive age is necessary and feasible. (Source: Journal of Assisted Reproduction and Genetics)
Source: Journal of Assisted Reproduction and Genetics - January 1, 2024 Category: Reproduction Medicine Source Type: research
571 Assessment of provider knowledge and recommendations for spinal muscular atrophy carrier testing
ACOG recommends that carrier screening (CS) for spinal muscular atrophy (SMA) be offered to women who are pregnant or considering pregnancy. Despite this, SMA CS practices are varied. The increasing number of conditions and variety of available CS panels has raised concerns regarding provider knowledge and proficiency in educating patients regarding CS options and test results. We sought to determine baseline provider knowledge of SMA and SMA CS patterns in a large academic OBGYN department. (Source: American Journal of Obstetrics and Gynecology)
Source: American Journal of Obstetrics and Gynecology - January 1, 2024 Category: OBGYN Authors: Melissa Riegel, Whitney Bender, Elizabeth Critchlow, Lorraine Dugoff Source Type: research
Complete genomic profiles of 1,496 Taiwanese reveal curated medical insights
CONCLUSION: Our study highlights the overall medical insights of a complete Taiwanese genomic profile.PMID:38159844 | DOI:10.1016/j.jare.2023.12.018 (Source: Adv Data)
Source: Adv Data - December 30, 2023 Category: Epidemiology Authors: Jacob Shujui Hsu Dung-Chi Wu Shang-Hung Shih Jen-Feng Liu Ya-Chen Tsai Tung-Lin Lee Wei-An Chen Yi-Hsuan Tseng Yi-Chung Lo Hong-Ye Lin Yi-Chieh Chen Jing-Yi Chen Ting-Hsuan Chou Darby Tienhao Chang Ming Wei Su Wei-Hong Guo Hsin-Hsiang Mao Chien-Yu Chen Pe Source Type: research
A high-fidelity long-read sequencing-based approach enables accurate and effective genetic diagnosis of spinal muscular atrophy
CONCLUSIONS: LRS represents a more comprehensive and accurate diagnosis approach that is beneficial to early treatment and effective management of SMA.PMID:38158006 | DOI:10.1016/j.cca.2023.117743 (Source: International Journal of Clinical Chemistry)
Source: International Journal of Clinical Chemistry - December 29, 2023 Category: Chemistry Authors: Jinli Bai Yujin Qu Wenshen Huang Wanli Meng Jiahan Zhan Hong Wang Wenqi Hou Yuwei Jin Aiping Mao Fang Song Source Type: research
Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype
Eur J Med Genet. 2023 Dec 21:104907. doi: 10.1016/j.ejmg.2023.104907. Online ahead of print.ABSTRACTGenetic variants in ATP7A are associated with a spectrum of X-linked disorders. In descending order of severity, these are Menkes disease, occipital horn syndrome, and X-linked distal spinal muscular atrophy. After 30 years of diagnostic investigation, we identified a deep intronic ATP7A variant in four males from a family affected to variable degrees by a predominantly skeletal phenotype, featuring bowing of long bones, elbow joints with restricted mobility which dislocate frequently, coarse curly hair, chronic diarrhoea, a...
Source: European Journal of Medical Genetics - December 23, 2023 Category: Genetics & Stem Cells Authors: J Robert Harkness Huw B Thomas Jill E Urquhart Peter Jamieson Genomics England Research Consortium Raymond T O'Keefe Helen M Kingston Charulata Deshpande William G Newman Source Type: research
Effect of nusinersen after 3 years of treatment in 57 young children with SMA in terms of SMN2 copy number or type
CONCLUSION: Children with SMA treated with nusinersen continue to make motor acquisitions at 3 years after initiation of treatment. Children with two SMN2 copies had worse motor, respiratory, and orthopedic outcomes after 3 years of treatment than children with three copies.PMID:38135619 | DOI:10.1016/j.arcped.2023.10.009 (Source: Archives de Pediatrie)
Source: Archives de Pediatrie - December 22, 2023 Category: Pediatrics Authors: Fr édérique Audic Sonia M Dubois Julien Durigneux Christine Barnerias Arnaud Isapof Marie-Christine Nougues Jean-Baptiste Davion Christian Richelme Carole Vuillerot Laure Legoff Pascal Sabouraud Claude Cances Vincent Laugel Juliette Ropars Caroline Espi Source Type: research
Effect of nusinersen after 3 years of treatment in 57 young children with SMA in terms of SMN2 copy number or type
CONCLUSION: Children with SMA treated with nusinersen continue to make motor acquisitions at 3 years after initiation of treatment. Children with two SMN2 copies had worse motor, respiratory, and orthopedic outcomes after 3 years of treatment than children with three copies.PMID:38135619 | DOI:10.1016/j.arcped.2023.10.009 (Source: Archives de Pediatrie)
Source: Archives de Pediatrie - December 22, 2023 Category: Pediatrics Authors: Fr édérique Audic Sonia M Dubois Julien Durigneux Christine Barnerias Arnaud Isapof Marie-Christine Nougues Jean-Baptiste Davion Christian Richelme Carole Vuillerot Laure Legoff Pascal Sabouraud Claude Cances Vincent Laugel Juliette Ropars Caroline Espi Source Type: research
Nusinersen demonstrates effectiveness in treating spinal muscular atrophy: findings from a three-year nationwide study in Korea
ConclusionNusinersen treatment for types 1–3 SMA is safe and effective in long-term follow-up. Early treatment initiation was a significant factor affecting long-term motor outcome. (Source: Frontiers in Neurology)
Source: Frontiers in Neurology - December 20, 2023 Category: Neurology Source Type: research
Nusinersen induces detectable changes in compound motor action potential response in spinal muscular atrophy type 1 patients with severe impairment of motor function
Most long-term affected spinal muscular atrophy (SMA) type 1 patients have severe impairment of motor function and are dependent on mechanical ventilation with tracheostomy. The efficacy and safety of nusinersen in these patients have not been established. (Source: Brain and Development)
Source: Brain and Development - December 15, 2023 Category: Neurology Authors: Yuki Ueda, Kiyoshi Egawa, Kentaro Kawamura, Noriki Ochi, Takeru Goto, Shuhei Kimura, Masashi Narugami, Sachiko Nakakubo, Midori Nakajima, Atsushi Manabe, Hideaki Shiraishi Tags: Original Article Source Type: research
Pregnancy in a Patient with Spinal Muscular Atrophy and Severe Restrictive Lung Disease
We present a case of a 24-year-old nullipara with a history of SMA type II complicated by surgically corrected kyphoscoliosis and severe restrictive lung disease. Her pregnancy was complicated by progressively worsening dyspnea resulting in increased use of noninvasive positive pressure ventilation, ultimately leading to indicated premature delivery at 28 weeks' gestation via cesarean section under general anesthesia.Women with SMA and severe restrictive lung disease are at high risk of premature delivery secondary to worsening respiratory status. A multidisciplinary approach is vital in treating these patients. [...] Thie...
Source: American Journal of Perinatology Reports - December 15, 2023 Category: Perinatology & Neonatology Authors: Alamri, Lamia A. Foxx, Alexandra M. Dwan, Robyn L. Sorabella, Laura E. Patel, Soha S. Tags: Case Report Source Type: research
