Paradoxical increase of neurofilaments in SMA patients treated with onasemnogene abeparvovec-xioi
ConclusionSerum NfL showed a paradoxical transient increase after GRT in both, pre-treated and naïve patients, which may reflect an immunological reaction in the CNS related to transfection of neuronal cells by AAV9. The clinical meaning of this increase should be assessed in future studies. Our findings encourage regular monitoring of NfL in OA treated patients. (Source: Frontiers in Neurology)
Source: Frontiers in Neurology - December 13, 2023 Category: Neurology Source Type: research
Case report: Prenatal diagnosis in the fetus of a couple with both thalassemia and deafness genes
Conclusion: Since both partners carried thalassemia and deafness genes, the couple required prenatal diagnosis for the respective mutations. Expanded carrier screening (ECS) is a more advanced technology that can detect multiple disease genes simultaneously. (Source: Frontiers in Genetics)
Source: Frontiers in Genetics - December 11, 2023 Category: Genetics & Stem Cells Source Type: research
ASAH1 Variants Causing Spinal Muscular Atrophy Phenotype
AbstractSpinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a rare autosomal recessive disorder due to mutations in theASAH1 gene. SMA-PME is characterized by progressive muscle weakness from three to seven years of age, drug refractory epilepsy, and variable degree of cognitive decline. Nearly 50 cases have been reported worldwide so far. Here the authors present a case of 9-y-old boy affected by SMA-PME characterized by progressive proximal weakness, and lower motor neuron disease, as proven by muscle biopsy, electro diagnostic studies and whole exome sequencing (WES). WES revealed compound heterozyg...
Source: Indian Journal of Pediatrics - December 11, 2023 Category: Pediatrics Source Type: research
Motor fiber function in spinal muscular atrophy —analysis of conduction velocity distribution
ObjectivesThe motor neuron survival protein, which is deficient in spinal muscular atrophy (SMA), performs numerous cellular functions. Currently, SMA is believed to be a multi-organ disease, including lesion of various structures of the central and peripheral nervous systems. Motor nerve damage, especially in milder SMA types, is controversial. This prompted the conduct of the electrophysiological studies in adults with SMA types 2 and 3 presented in this paper.MethodsThe study group consisted of 44 adult patients with SMA types 2 and 3. All patients underwent neurological examination with Hammersmith Functional Motor Sca...
Source: Frontiers in Neurology - December 7, 2023 Category: Neurology Source Type: research
Gene therapy in spinal muscular atrophy
Arch Pediatr. 2023 Nov;30(8S1):8S12-8S17. doi: 10.1016/S0929-693X(23)00222-1.ABSTRACTInfantile SMA is a neuromuscular disease caused by the motor neuron degeneration, depending on the age of appearance of clinical signs and the evolution of the disease, three types of decreasing severity have been defined. SMA is caused by mutations or deletions of the SMN1 gene and disease. Various therapies aimed at increasing SMN protein levels have been developed. Gene therapy is part of the therapeutic arsenal now available for the treatment of SMA under certain conditions. It uses the scAAV9 vector carrying a functional copy of SMN1 ...
Source: Archives de Pediatrie - December 3, 2023 Category: Pediatrics Authors: Fr édérique Audic Source Type: research
Gene therapy for neurodegenerative disorders in children: dreams and realities
Arch Pediatr. 2023 Nov;30(8S1):8S32-8S40. doi: 10.1016/S0929-693X(23)00225-7.ABSTRACTGene therapy encompasses the administration of biological medicinal products containing recombinant nucleic acids, mainly DNA, with the aim of treating or curing diseases. This represents a unique therapeutic strategy to reach the brain, in order to prevent or halt a neurodegenerative process. During the past decade, active multidisciplinary research has started to solve many issues for gene therapy in neurodegenerative disorders in terms of vectors, modes of administration, and expression of the therapeutic DNA. The engineering of hematop...
Source: Archives de Pediatrie - December 3, 2023 Category: Pediatrics Authors: Odile Boespflug-Tanguy Caroline Sevin Francoise Piguet Source Type: research
The emerging spectrum of neurodevelopmental comorbidities in early-onset Spinal Muscular Atrophy
Eur J Paediatr Neurol. 2023 Nov 23;48:67-68. doi: 10.1016/j.ejpn.2023.11.006. Online ahead of print.NO ABSTRACTPMID:38043384 | DOI:10.1016/j.ejpn.2023.11.006 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - December 3, 2023 Category: Neurology Authors: Giovanni Baranello Neurodevelopment in SMA Working Group Source Type: research
The emerging spectrum of neurodevelopmental comorbidities in early-onset Spinal Muscular Atrophy
Eur J Paediatr Neurol. 2023 Nov 23;48:67-68. doi: 10.1016/j.ejpn.2023.11.006. Online ahead of print.NO ABSTRACTPMID:38043384 | DOI:10.1016/j.ejpn.2023.11.006 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - December 3, 2023 Category: Neurology Authors: Giovanni Baranello Neurodevelopment in SMA Working Group Source Type: research
Gene therapy in spinal muscular atrophy
Arch Pediatr. 2023 Nov;30(8S1):8S12-8S17. doi: 10.1016/S0929-693X(23)00222-1.ABSTRACTInfantile SMA is a neuromuscular disease caused by the motor neuron degeneration, depending on the age of appearance of clinical signs and the evolution of the disease, three types of decreasing severity have been defined. SMA is caused by mutations or deletions of the SMN1 gene and disease. Various therapies aimed at increasing SMN protein levels have been developed. Gene therapy is part of the therapeutic arsenal now available for the treatment of SMA under certain conditions. It uses the scAAV9 vector carrying a functional copy of SMN1 ...
Source: Archives de Pediatrie - December 3, 2023 Category: Pediatrics Authors: Fr édérique Audic Source Type: research
Gene therapy for neurodegenerative disorders in children: dreams and realities
Arch Pediatr. 2023 Nov;30(8S1):8S32-8S40. doi: 10.1016/S0929-693X(23)00225-7.ABSTRACTGene therapy encompasses the administration of biological medicinal products containing recombinant nucleic acids, mainly DNA, with the aim of treating or curing diseases. This represents a unique therapeutic strategy to reach the brain, in order to prevent or halt a neurodegenerative process. During the past decade, active multidisciplinary research has started to solve many issues for gene therapy in neurodegenerative disorders in terms of vectors, modes of administration, and expression of the therapeutic DNA. The engineering of hematop...
Source: Archives de Pediatrie - December 3, 2023 Category: Pediatrics Authors: Odile Boespflug-Tanguy Caroline Sevin Francoise Piguet Source Type: research
Gene therapy for neurodegenerative disorders in children: dreams and realities
Arch Pediatr. 2023 Nov;30(8S1):8S32-8S40. doi: 10.1016/S0929-693X(23)00225-7.ABSTRACTGene therapy encompasses the administration of biological medicinal products containing recombinant nucleic acids, mainly DNA, with the aim of treating or curing diseases. This represents a unique therapeutic strategy to reach the brain, in order to prevent or halt a neurodegenerative process. During the past decade, active multidisciplinary research has started to solve many issues for gene therapy in neurodegenerative disorders in terms of vectors, modes of administration, and expression of the therapeutic DNA. The engineering of hematop...
Source: Archives de Pediatrie - December 3, 2023 Category: Pediatrics Authors: Odile Boespflug-Tanguy Caroline Sevin Francoise Piguet Source Type: research
Gene therapy in spinal muscular atrophy
Arch Pediatr. 2023 Nov;30(8S1):8S12-8S17. doi: 10.1016/S0929-693X(23)00222-1.ABSTRACTInfantile SMA is a neuromuscular disease caused by the motor neuron degeneration, depending on the age of appearance of clinical signs and the evolution of the disease, three types of decreasing severity have been defined. SMA is caused by mutations or deletions of the SMN1 gene and disease. Various therapies aimed at increasing SMN protein levels have been developed. Gene therapy is part of the therapeutic arsenal now available for the treatment of SMA under certain conditions. It uses the scAAV9 vector carrying a functional copy of SMN1 ...
Source: Archives de Pediatrie - December 3, 2023 Category: Pediatrics Authors: Fr édérique Audic Source Type: research
The emerging spectrum of neurodevelopmental comorbidities in early-onset Spinal Muscular Atrophy
Eur J Paediatr Neurol. 2023 Nov 23;48:67-68. doi: 10.1016/j.ejpn.2023.11.006. Online ahead of print.NO ABSTRACTPMID:38043384 | DOI:10.1016/j.ejpn.2023.11.006 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - December 3, 2023 Category: Neurology Authors: Giovanni Baranello Neurodevelopment in SMA Working Group Source Type: research
Gene therapy in spinal muscular atrophy
Arch Pediatr. 2023 Nov;30(8S1):8S12-8S17. doi: 10.1016/S0929-693X(23)00222-1.ABSTRACTInfantile SMA is a neuromuscular disease caused by the motor neuron degeneration, depending on the age of appearance of clinical signs and the evolution of the disease, three types of decreasing severity have been defined. SMA is caused by mutations or deletions of the SMN1 gene and disease. Various therapies aimed at increasing SMN protein levels have been developed. Gene therapy is part of the therapeutic arsenal now available for the treatment of SMA under certain conditions. It uses the scAAV9 vector carrying a functional copy of SMN1 ...
Source: Archives de Pediatrie - December 3, 2023 Category: Pediatrics Authors: Fr édérique Audic Source Type: research
Gene therapy for neurodegenerative disorders in children: dreams and realities
Arch Pediatr. 2023 Nov;30(8S1):8S32-8S40. doi: 10.1016/S0929-693X(23)00225-7.ABSTRACTGene therapy encompasses the administration of biological medicinal products containing recombinant nucleic acids, mainly DNA, with the aim of treating or curing diseases. This represents a unique therapeutic strategy to reach the brain, in order to prevent or halt a neurodegenerative process. During the past decade, active multidisciplinary research has started to solve many issues for gene therapy in neurodegenerative disorders in terms of vectors, modes of administration, and expression of the therapeutic DNA. The engineering of hematop...
Source: Archives de Pediatrie - December 3, 2023 Category: Pediatrics Authors: Odile Boespflug-Tanguy Caroline Sevin Francoise Piguet Source Type: research
