Search results for "spinal muscular atrophy"
showing 6 items of 26 documents
A Spinal Muscular Atrophy Reporter System for in vivo Drug Discovery in Drosophila melanogaster
2018
Fondo La Atrofia Muscular Espinal es un desorden neuromuscular raro y fatal causado por la pérdida o reducción en los niveles de proteína de la Neurona Motor de Supervivencia (SMN). Los individuos afectados tienen el gen SMN1 mutado y la copia SMN2 específica de humanos no afectada, que se traduce solo parcialmente en una proteína SMN funcional. La activación farmacológica de la inclusión del exón 7 de SMN2 por moléculas pequeñas o oligonucleótidos antisentido modificados es un enfoque prometedor para tratar la SMA. Obtener nuevos compuestos potencialmente terapéuticos para los ensayos clínicos es un proceso largo y costoso. El enfoque de reposicionamiento de medicamentos puede reducir el t…
Nusinersen in adult patients with 5q spinal muscular atrophy: a multicenter observational cohorts’ study
2021
ABSTRACTObjectiveTo assess safety and efficacy of nusinersen in adult 5q spinal muscular atrophy (SMA) patients.MethodsPatients older than 15 years and followed at least for 6 months with one motor scale (Hammersmith Functional Motor Scale Expanded, HFMSE; Revised Upper Limb module, RULM) in five referral centers were included. Clinical and patients’ global impression of change (CGI-C and PGI-C) were recorded in treated patients at the last visit. Functional scales (Egen Klassification, EK2; Revised Amyotrophic Lateral Sclerosis Functional Rating Scale, ALSFRS-R) and the percent-predicted forced vital capacity were collected when available.ResultsSeventy-nine SMA patients (39 treated with n…
Acid Ceramidase Deficiency
2015
Abstract A deficiency of the lysosomal enzyme ceramidase leads to accumulation of the sphingolipid ceramide in several organs such as skin, liver, brain and other tissues, resulting in a broad spectrum of clinical manifestations. The most common form, called Farber lipogranulomatosis, is characterized by subcutaneous skin nodules and a progressive hoarseness, in many cases also the central nervous system is affected. A lethal hydrops fetalis represents the most severe form. A ceramidase deficiency was also found in a few patients in whom neurological symptoms such as spinal muscular atrophy and myoclonus epilepsy dominated the clinical picture. In the ceramidase gene, which has been mapped …
Neurodegenerative changes are prevented by Erythropoietin in the pmn model of motoneuron degeneration
2014
Motoneuron diseases are fatal neurodegenerative disorders characterized by a progressive loss of motoneurons, muscle weakness and premature death. The progressive motor neuronopathy (pmn) mutant mouse has been considered a good model for the autosomal recessive childhood form of spinal muscular atrophy (SMA). Here, we investigated the therapeutic potential of Erythropoietin (Epo) on this mutant mouse. Symptomatic or pre-symptomatic treatment with Epo significantly prolongs lifespan by 84.6% or 87.2% respectively. Epo preserves muscle strength and significantly attenuates behavioural motor deficits of mutant pmn mice. Histological and metabolic changes in the spinal cord evaluated by immunoh…
G.P.232
2014
Spinal muscular atrophy (SMA) and Pompe disease (PD) are common neuromuscular disorders during childhood causing progressive weakness of proximal muscles with gait disturbances, loss of ambulation and breathing difficulties. Whereas SMA is the result of a neurogenic atrophy caused by mutations in the SMN1 gene, PD is a lysosomal glycogen storage disease (type II) due to mutations of the GAA gene responsible for the enzyme activity of acid alpha-1,4-glucosidase. PD is treatable by enzyme replacement therapy, but in SMA there is no established curable therapy. We report on a child with genetically proven SMA type III and PD caused by mutations in the SMN1 and GAA genes. A 3 years old girl pre…
Validation of motor and functional scales for the evaluation of adult patients with 5q spinal muscular atrophy
2021
ABSTRACTObjectiveTo assess in adult spinal muscular atrophy (SMA) patients the construct validity and responsiveness of several outcome measures.MethodsPatients older than 15 years and followed-up at least for 6 months, between October 2015 and August 2020, with one motor function scale (Hammersmith Functional Motor Scale Expanded, HFMSE; Revised Upper Limb module, RULM) in five referral centers were included. Bedside functional scales (Egen Klassification, EK2; Revised Amyotrophic Lateral Sclerosis Functional Rating Scale, ALSFRS-R) were also collected when available. Correlations and regression models were performed to evaluate the construct validity. The monthly slopes of change were use…