Results 71 to 80 of about 1,998 (153)

Glymphatic Dysfunction in Children With Type 2 and 3 Spinal Muscular Atrophy

CNS Neuroscience &Therapeutics, Volume 32, Issue 8, August 2026.
This study reveals glymphatic dysfunction in children with spinal muscular atrophy (SMA), characterized by increased cerebrospinal fluid volume and reduced ALPS index. These alterations correlate with clinical severity, identifying glymphatic dysfunction as a previously unrecognized feature of SMA pathophysiology.
Shasha Lan, Pei Xiang, Cui Yan, Huirong Nie, Huan Wang, Boyan Xu, Zhiyun Yang, Wen Tang, Yijuan Li, Yujian Liang, Yingqian Chen   +10 more
wiley   +1 more source

Outcomes for patients in the RESTORE registry with spinal muscular atrophy and four or more SMN2 gene copies treated with onasemnogene abeparvovec [PDF]

Onasemnogene abeparvovec; Spinal muscular atrophy; Survival motor neuron 2 geneOnasemnogene abeparvovec; Atròfia muscular espinal; Gen de la neurona motora 2 de supervivènciaOnasemnogene abeparvovec; Atrofia muscular espinal; Gen de la neurona motora 2 ...
Aharoni, Sharon, Quijano-Roy, Susana, Parsons, Julie, TIZZANO, EDUARDO F., Servais, Laurent, Lakhotia, Arpita   +5 more
core   +1 more source

Improved gene therapy for spinal muscular atrophy in mice using codon-optimized hSMN1 transgene and hSMN1 gene-derived promotor

EMBO Molecular Medicine
Physiological regulation of transgene expression is a major challenge in gene therapy. Onasemnogene abeparvovec (Zolgensma®) is an approved adeno-associated virus (AAV) vector gene therapy for infants with spinal muscular atrophy (SMA), however, adverse ...
Qing Xie, Xiupeng Chen, Hong Ma, Yunxiang Zhu, Yijie Ma, Leila Jalinous, Gerald F Cox, Fiona Weaver, Jun Yang, Zachary Kennedy, Alisha Gruntman, Ailing Du, Qin Su, Ran He, Phillip WL Tai, Guangping Gao, Jun Xie   +16 more
doaj   +1 more source

Recent Advance in Disease Modifying Therapies for Spinal Muscular Atrophy

Acta Neurologica Taiwanica
Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease characterized by progressive weakness and atrophy of skeletal muscles. With homozygous survival motor neuron 1 (SMN1) gene mutation, all SMA patients have at least one copy of ...
Li-Kai Tsai, Chen-Hung Ting, Yo-Tsen Liu, Cheng-Tsung Hsiao, Wen-Chin Weng, Society for Neurological Rare Disorders-Taiwan   +5 more
doaj   +1 more source

Impact of Intermittent Positive Pressure Breathing on Thoracic Growth in Children With Type 1 Spinal Muscular Atrophy

Pediatric Pulmonology, Volume 61, Issue 8, August 2026.
ABSTRACT Introduction The emergence of new disease‐modifying treatments for type I spinal muscular atrophy (SMA I) has led to a paradigm shift in the respiratory management of these patients. Accompanying pulmonary and thoracic growth appears to be a key factor in their morbidity and mortality. The role of Intermittent Positive Pressure Breathing (IPPB)
Charlotte Thébault, Sophie Denamur, Gilles Thomas, Audrey Barzic, Elsa Schwartz, Maëlle Dupuis, Marie‐Christine Nougues, Arnaud Isapof, Guillaume Aubertin, Jessica Taytard   +9 more
wiley   +1 more source

CASE REPORT: Liver Failure in a 4-month-old male with SMA type 2 after gene therapy/Onasemnogene abeparvovec (Zolgensma) [PDF]

, 2023
Introduction: Spinal muscular atrophy (SMA) is characterized by muscle weakness and atrophy resulting from progressive degeneration of the anterior horn cells in the spinal cord and the brain stem nuclei. The onset of weakness ranges from before birth to
Hager, Juliana, Paul, Dustin J.
core   +1 more source

Promoting expression in gene therapy: more is not always better

EMBO Molecular Medicine
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease caused by loss-of-function of SMN1. SMA is characterized by degeneration of motor neurons in the spinal cord, leading to progressive muscle weakness and atrophy.
Maria M Zwartkruis, Ewout JN Groen
doaj   +1 more source

Systematic Review of Presymptomatic Treatment for Spinal Muscular Atrophy

International Journal of Neonatal Screening
Spinal muscular atrophy (SMA) causes the degeneration of motor neurons in the spinal cord. Treatments including nusinersen, risdiplam, and onasemnogene abeparvovec have been shown to be effective in reducing symptoms, with recent studies suggesting ...
Katy Cooper, Gamze Nalbant, Anthea Sutton, Sue Harnan, Praveen Thokala, Jim Chilcott, Alisdair McNeill, Alice Bessey   +7 more
doaj   +1 more source

A consensus survey of neurologists and clinical geneticists on spinal muscular atrophy treatment in Singapore

Annals, Academy of Medicine, Singapore
Just a decade ago, spinal muscular atrophy (SMA) was considered a debilitating, progressive neuromuscular disease that inevitably led to chronic disability and a shortened lifespan.
Jocelyn Yi Xiu Lim, Furene Sijia Wang, Simon Robert Ling, Stacey Kiat Hong Tay   +3 more
doaj   +1 more source

Disease Modifying Therapies for the Management of Children with Spinal Muscular Atrophy (5q SMA): An Update on the Emerging Evidence

Drug Design, Development and Therapy, 2022
Helgi Thor Hjartarson,1 Kristofer Nathorst-Böös,1 Thomas Sejersen1,2 1Department of Neuropediatrics, Astrid Lindgren Children´s Hospital, Karolinska University Hospital, Stockholm, Sweden; 2Department of Women’s and Children’s Health, Karolinska ...
Hjartarson HT, Nathorst-Böös K, Sejersen T   +2 more
doaj