المؤلفون: Valeria A. Sansone, Jeffrey Statland, Nicholas E. Johnson, Michael G. Hanna, Emma Ciafaloni, Fredric Cohen, Perry B Shieh, Robert C. Griggs

المصدر: Muscle & Nerve. 64:342-346

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Dichlorphenamide, Physiology, Placebo, Gastroenterology, Paralyses, Familial Periodic, Young Adult, Cellular and Molecular Neuroscience, Double-Blind Method, Physiology (medical), Internal medicine, Post-hoc analysis, medicine, Paralysis, Humans, Carbonic Anhydrase Inhibitors, Adverse effect, Aged, business.industry, Periodic paralysis, Middle Aged, medicine.disease, Discontinuation, Treatment Outcome, Tolerability, Female, Neurology (clinical), medicine.symptom, business

الوصف: INTRODUCTION/AIM Long-term efficacy and safety of dichlorphenamide (DCP) were characterized in patients with primary periodic paralysis (PPP). METHODS Patients with PPP in a double-blind, placebo-controlled study were randomly assigned to receive DCP 50 mg twice daily or placebo for 9 weeks, followed by a 52-week open-label DCP treatment phase (DCP/DCP and placebo/DCP populations). Efficacy (attack rate, severity-weighted attack rate) and safety were assessed in patients completing the study (61 weeks). In this post hoc analysis, efficacy and safety data were pooled from hyperkalemic and hypokalemic substudies. RESULTS Sixty-three adults (age, 19-76 years) completed the double-blind phase; 47 (74.6%) of these patients completed 61 weeks. There were median decreases in weekly attack and severity-weighted attack rates from baseline to week 61 (DCP/DCP [n = 25], -1.00 [P

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9fa010f2a4628a0d1c664cee4191269bTest
https://doi.org/10.1002/mus.27354Test

المؤلفون: Valeria A. Sansone, Andrea Barp, Christian Lunetta, Andrea Lizio, Luca Mauro, Francesca Gerardi, Claudia Tarlarini

المصدر: Clinical Neurophysiology. 132:1564-1571

مصطلحات موضوعية: Male, Oncology, Vital capacity, medicine.medical_specialty, Vital Capacity, Neural Conduction, 050105 experimental psychology, Cohort Studies, 03 medical and health sciences, FEV1/FVC ratio, 0302 clinical medicine, Physiology (medical), Internal medicine, Outcome Assessment, Health Care, medicine, Humans, 0501 psychology and cognitive sciences, In patient, Amyotrophic lateral sclerosis, Aged, medicine.diagnostic_test, Electromyography, business.industry, Amyotrophic Lateral Sclerosis, 05 social sciences, Disease progression, Outcome measures, Middle Aged, Neurophysiology, medicine.disease, Sensory Systems, Cross-Sectional Studies, Neurology, Disease Progression, Nerve conduction study, Female, Neurology (clinical), business, 030217 neurology & neurosurgery

الوصف: This study examined neurophysiological (NI), split-hand (SI) and split-leg (SLI) index in patients with amyotrophic lateral sclerosis (ALS), and their correlation with functional status, disease duration, staging and survival.Eighty-two patients underwent nerve conduction study to analyze NI, SI and SLI. Amyotrophic Lateral Sclerosis Functional Rating Scale-Revised (ALSFRS-R), disease progression rate (ΔFS), Milano-Torino (MiToS) and King's staging systems, Forced Vital Capacity (FVC), and survival data were collected.Both NI and SI indices were significantly associated with ALSFRS-R, MiToS, King's and FVC. Slow progressor patients (ΔFS 0.5) reported a significantly higher NI and SI values compared to both normal (0.5 ≤ ΔFS 1.00) and fast progressors (ΔFS ≥ 1.0). After dichotomizing patients in slow progressors (ΔFS 0.5) and not-slow progressors (ΔFS ≥ 0.5), a combination of SI index and disease duration revealed to be the best prediction model to discriminate patients in accordance with their disease progression (c-index: 0.92), leading to a new prognostic index: the 'Split-Hand prognostic index' (SHpi).SI and NI are correlated with functional status and FVC. SHpi index could represent an useful tool to discriminate patients in accordance with their disease progression.These data provide novel evidence of neurophysiological indices as promising biomarkers in ALS.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e13bde8be9467f93c88b275fa8aa6c2Test
https://doi.org/10.1016/j.clinph.2021.02.394Test

المؤلفون: Sonia Messina, Maria Sframeli, Jacqueline Montes, Simone Morando, John W. Day, Valeria A. Sansone, Matthew Civitello, Laura Antonaci, William B. Martens, Allan M. Glanzman, Enrico Bertini, Annemarie Rohwer, Marika Pane, Eugenio Mercuri, Adele D'Amico, Irene Mizzoni, Claudio Bruno, Katia Patanella, Roberto De Sanctis, Francesco Muntoni, Darryl C. De Vivo, Anna Lia Frongia, Francesca Bovis, Tina Duong, Maria Carmela Pera, Amy Pasternak, Giorgia Coratti, Francesca Salmin, Richard S. Finkel, Mariacristina Scoto, Basil T. Darras, Sally Dunaway Young

المصدر: Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Vol 8, Iss 8, Pp 1622-1634 (2021)

مصطلحات موضوعية: 0301 basic medicine, Male, Outcome Assessment, Oligonucleotides, Spinal Muscular Atrophies of Childhood, Severity of Illness Index, 0302 clinical medicine, Outcome Assessment, Health Care, Medicine, Adolescent, Adult, Aged, Child, Child, Preschool, Female, Humans, Longitudinal Studies, Middle Aged, Young Adult, Registries, Research Articles, media_common, Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, General Neuroscience, nusinersen, SMA, medicine.anatomical_structure, Cohort, Upper limb, Nusinersen, RC321-571, Research Article, medicine.medical_specialty, media_common.quotation_subject, Neurosciences. Biological psychiatry. Neuropsychiatry, 03 medical and health sciences, Text mining, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Internal medicine, Preschool, RC346-429, Selection bias, Adult patients, business.industry, Spinal muscular atrophy, medicine.disease, Health Care, 030104 developmental biology, Neurology (clinical), Neurology. Diseases of the nervous system, business, 030217 neurology & neurosurgery

الوصف: Objective We report longitudinal data from 144 type III SMA pediatric and adult patients treated with nusinersen as part of an international effort. Methods Patients were assessed using Hammersmith Functional Motor Scale Expanded (HFMSE), Revised Upper Limb Module (RULM), and 6‐Minute Walk Test (6MWT) with a mean follow‐up of 1.83 years after nusinersen treatment. Results Over 75% of the 144 patients had a 12‐month follow‐up. There was an increase in the mean scores from baseline to 12 months on both HFMSE (1.18 points, p = 0.004) and RULM scores (0.58 points, p = 0.014) but not on the 6MWT (mean difference = 6.65 m, p = 0.33). When the 12‐month HFMSE changes in the treated cohort were compared to an external cohort of untreated patients, in all untreated patients older than 7 years, the mean changes were always negative, while always positive in the treated ones. To reduce a selection bias, we also used a multivariable analysis. On the HFMSE scale, age, gender, baseline value, and functional status contributed significantly to the changes, while the number of SMN2 copies did not contribute. The effect of these variables was less obvious on the RULM and 6MWT. Interpretation Our results expand the available data on the effect of Nusinersen on type III patients, so far mostly limited to data from adult type III patients.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce733bf025ec593e1d29dfd1172ba332Test
http://europepmc.org/articles/PMC8351459Test

المؤلفون: Valeria A. Sansone, Andrea Barp, Emilio Albamonte, Elena Carraro, Stefania Bergamoni, Lorenzo Maggi, Valentina Duga, Alice Passarini

المصدر: Journal of Pediatric Neurology. 20:067-070

مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, business.industry, Sporadic hemiplegic migraine, 030105 genetics & heredity, Gastroenterology, Congenital ataxia, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), Single amino acid, business, 030217 neurology & neurosurgery

الوصف: Mutations in the CACNA1A gene have been classically related to three neurologic disorders: hemiplegic migraine type 1 (both familiar and sporadic FHM1/SHM1), episodic ataxia type 2 (EA2), and spinocerebellar ataxia type 6 (SCA6). More recently, pathogenic variants in CACNA1A have been recognized as causative of an early-onset cerebellar syndrome consistent with the definition of congenital ataxia (CA), variably associated with paroxysmal symptoms. Early recognition of congenital ataxia is challenging because the presenting symptoms, such as hypotonia, weak deep tendon reflexes, and delayed motor milestones, are unspecific while clear signs of a cerebellar syndrome which are usually not seen before the second or third year. Here, we report on a case of nonepisodic ataxia of congenital onset and severe SHM1 where the diagnosis of congenital ataxia was made retrospectively after the identification of the ΔF1502 pathogenic variant in CACNA1A by an hemiplegic migraine multigene panel, conducted for the onset of hemiplegic migraine attacks associated with hemispheric swelling. A significant reduction in migraine attacks frequency was achieved with acetazolamide.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::44098e4c7b718054d1f64432c041bb9cTest
https://doi.org/10.1055/s-0041-1725984Test

المؤلفون: Anne-Marie Childs, Robert Muni Lofra, Min Ong, Eugenio Mercuri, Chiara Marini-Bettolo, Richard S. Finkel, Giorgia Coratti, Federica Trucco, Elizabeth A. Kichula, Adele D'Amico, Valeria A. Sansone, Francesco Muntoni, Mariacristina Scoto, Aledie A. Navas Nazario, Tracey Willis, Darryl C. De Vivo, Marika Pane, J. Day, Marion Main, Vasantha Gowda, Oscar H. Mayer, Claudio Bruno, A. Mayhew, Deepak Parasuraman, Emilio Albamonte, Sonia Messina, Jacqueline Montes, Basil T. Darras, Deborah Ridout, Enrico Bertini

المصدر: Neurology
article-version (Version of Record) 3

مصطلحات موضوعية: Male, Vital capacity, medicine.medical_specialty, Internationality, Adolescent, Settore MED/10 - MALATTIE DELL'APPARATO RESPIRATORIO, Scoliosis, Spinal Muscular Atrophies of Childhood, Article, Cohort Studies, 03 medical and health sciences, FEV1/FVC ratio, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, 0302 clinical medicine, Internal medicine, Humans, Medicine, Respiratory function, Child, Retrospective Studies, Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, business.industry, Retrospective cohort study, Respiration Disorders, SMA, medicine.disease, 030228 respiratory system, Female, Nusinersen, Neurology (clinical), business, 030217 neurology & neurosurgery, Follow-Up Studies, Cohort study

الوصف: ObjectiveTo describe the respiratory trajectories and their correlation with motor function in an international pediatric cohort of patients with type 2 and nonambulant type 3 spinal muscular atrophy (SMA).MethodsThis was an 8-year retrospective observational study of patients in the International SMA Consortium (iSMAc) natural history study. We retrieved anthropometrics, forced vital capacity (FVC) absolute, FVC percent predicted (FVC%P), and noninvasive ventilation (NIV) requirement. Hammersmith Functional Motor Scale (HFMS) and revised Performance of Upper Limb (RULM) scores were correlated with respiratory function. We excluded patients in interventional clinical trials and on nusinersen commercial therapy.ResultsThere were 437 patients with SMA: 348 with type 2 and 89 with nonambulant type 3. Mean age at first visit was 6.9 (±4.4) and 11.1 (±4) years. In SMA type 2, FVC%P declined by 4.2%/y from 5 to 13 years, followed by a slower decline (1.0%/y). In type 3, FVC%P declined by 6.3%/y between 8 and 13 years, followed by a slower decline (0.9%/y). Thirty-nine percent with SMA type 2% and 9% with type 3 required NIV at a median age 5.0 (1.8–16.6) and 15.1 (13.8–16.3) years. Eighty-four percent with SMA type 2% and 80% with type 3 had scoliosis; 54% and 46% required surgery, which did not significantly affect respiratory decline. FVC%P positively correlated with HFMS and RULM scores in both subtypes.ConclusionsIn SMA type 2 and nonambulant type 3, lung function declines differently, with a common leveling after age 13 years. Lung and motor function correlated in both subtypes. Our data further define the milder SMA phenotypes and provide information to benchmark the long-term efficacy of new treatments for SMA.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eca983988c6c9fb647b81bac43f2cb61Test
https://doi.org/10.1212/wnl.0000000000011051Test

المؤلفون: Nicoletta Guanziroli, Philippe Fayemendy, Philippe Couratier, Nilo Riva, Ettore Corradi, Valeria A. Sansone, Philippe Corcia, Christian Lunetta, Andrea Lizio, Letizia Leocani, Massimo Filippi, Marina Cattaneo, Pierre Jésus

المساهمون: Cattaneo, M., Jesus, P., Lizio, A., Fayemendy, P., Guanziroli, N., Corradi, E., Sansone, V., Leocani, L., Filippi, M., Riva, N., Corcia, P., Couratier, P., Lunetta, C., ASST Grande Ospedale Metropolitano Niguarda, Neuroépidémiologie Tropicale (NET), Institut Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST), Université de Limoges (UNILIM)-Université de Limoges (UNILIM)-CHU Limoges-Institut d'Epidémiologie Neurologique et de Neurologie Tropicale-Institut National de la Santé et de la Recherche Médicale (INSERM), Service d'Hépato-Gastro-Entérologie et Nutrition [CHU Limoges], CHU Limoges, San Raffaele Hospital, Universita Vita Salute San Raffaele = Vita-Salute San Raffaele University [Milan, Italie] (UniSR), Imagerie et cerveau (iBrain - Inserm U1253 - UNIV Tours ), Université de Tours-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Neurologie [CHU Limoges], CHU Limoges-Institut d'Epidémiologie Neurologique et de Neurologie Tropicale-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST), Université de Limoges (UNILIM)-Université de Limoges (UNILIM), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)

المصدر: Journal of Neurology, Neurosurgery and Psychiatry
Journal of Neurology, Neurosurgery and Psychiatry, BMJ Publishing Group, 2021, jnnp-2021-326184. ⟨10.1136/jnnp-2021-326184⟩

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, 030309 nutrition & dietetics, medicine.medical_treatment, 03 medical and health sciences, 0302 clinical medicine, Weight loss, Internal medicine, Weight Loss, medicine, Humans, Amyotrophic lateral sclerosis, Aged, Retrospective Studies, 0303 health sciences, business.industry, Amyotrophic Lateral Sclerosis, Retrospective cohort study, Calorimetry, Indirect, Middle Aged, medicine.disease, Prognosis, Gastrostomy, 3. Good health, Psychiatry and Mental health, Malnutrition, Cohort, Breathing, Hypermetabolism, Body Composition, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, Surgery, Female, Neurology (clinical), medicine.symptom, business, Energy Metabolism, 030217 neurology & neurosurgery

الوصف: BackgroundMalnutrition and weight loss are negative prognostic factors for survival in patients with amyotrophic lateral sclerosis (ALS). However, energy expenditure at rest (REE) is still not included in clinical practice, and no data are available concerning hypometabolic state in ALS.ObjectiveTo evaluate in a referral cohort of patients with ALS the prevalence of hypometabolic state as compared with normometabolic and hypermetabolic states, and to correlate it with clinical phenotype, rate of progression and survival.DesignWe conducted a retrospective study examining REE measured by indirect calorimetry in patients with ALS referred to Milan, Limoges and Tours referral centres between January 2011 and December 2017. Hypometabolism and hypermetabolism states were defined when REE difference between measured and predictive values was ≤−10% and ≥10%, respectively. We evaluated the relationship between these metabolic alterations and measures of body composition, clinical characteristics and survival.ResultsEight hundred forty-seven patients with ALS were recruited. The median age at onset was 63.79 years (IQR 55.00–71.17). The male/female ratio was 1.26 (M/F: 472/375). Ten per cent of patients with ALS were hypometabolic whereas 40% were hypermetabolic. Hypometabolism was significantly associated with later need for gastrostomy, non-invasive ventilation and tracheostomy placement. Furthermore, hypometabolic patients with ALS significantly outlived normometabolic (HR=1.901 (95% CI 1.080 to 3.345), p=0.0259) and hypermetabolic (HR=2.138 (95% CI 1.154 to 3.958), p=0.0157) patients.ConclusionHypometabolism in ALS is not uncommon and is associated with slower disease progression and better survival than normometabolic and hypermetabolic subjects. Indirect calorimetry should be performed at least at time of diagnosis because alterations in metabolism are correlated with prognosis.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c076f52ad274d2cf85962555cb43c3fTest

المؤلفون: Valeria A. Sansone, Matthew Civitello, Mariacristina Scoto, Adele D'Amico, Emilio Albamonte, Irene Mizzoni, Anna Lia Frongia, Maria Carmela Pera, Basil T. Darras, John W. Day, Amy Pasternak, Francesca Bovis, Sally Dunaway Young, Giorgia Coratti, Laura Antonaci, Eugenio Mercuri, Maria Sframeli, Tina Duong, Claudio Bruno, Annemarie Rohwer, Jacqueline Montes, Richard S. Finkel, Marika Pane, Darryl C. De Vivo, Enrico Bertini, Giovanni Baranello, Evelin Milev, Roberto De Sanctis, Francesco Muntoni, Sonia Messina, Allan M. Glanzman, Elena S. Mazzone, Massimo Russo

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Spinal, Natural history, Spinal Muscular Atrophies of Childhood, Outcome measures, Cohort Studies, Muscular Atrophy, Spinal, Upper Extremity, Neuromuscular disorders, Revised upper limb module, Spinal muscular atrophy, Young Adult, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Internal medicine, medicine, Humans, Child, Child, Preschool, Disease Progression, Female, Longitudinal Studies, Middle Aged, Preschool, Genetics (clinical), business.industry, SMA, medicine.disease, Relative stability, Large cohort, Settore MED/26 - NEUROLOGIA, Muscular Atrophy, medicine.anatomical_structure, Neurology, Pediatrics, Perinatology and Child Health, Cardiology, Upper limb, Neurology (clinical), business, Real world data

الوصف: The aim of the study was to establish 24-month changes in a large cohort of type II and III spinal muscular atrophy (SMA) patients assessed with the Revised Upper Limb Module (RULM), a tool specifically developed to assess upper limb function in SMA. We included 107 patients (54 type II and 53 type III) with at least 24-months follow up. The overall RULM 24-month changes showed a mean decline of -0.79 points. The difference between baseline and 24 months was significant in type II but not in type III patients. There was also a difference among functional subgroups but not in relation to age. Most patients had 24-month mean changes within 2 points, with 23% decreasing more than 2 points and 7% improving by >2 points. Our results suggest an overall progressive decline in upper limb function over 24 months. The negative changes were most notable in type II, in non-ambulant type III and with a different pattern of progression, also in non-sitter type II. In contrast, ambulant type III showed relative stability within the 24-month follow up. These findings will help in the interpretation of the real world data collected following the availability of new therapeutic approaches.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::862b23e9e6b08e24fee4b1754d6d00fcTest
http://hdl.handle.net/10807/197786Test

المؤلفون: Carmelo Messina, Elena Passeri, G. Meola, Valeria A. Sansone, Luca Maria Sconfienza, Sabrina Corbetta

المصدر: Neuromuscular Disorders. 30:28-34

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Osteoporosis, Myotonic dystrophy, Body Mass Index, Fractures, Bone, 03 medical and health sciences, Absorptiometry, Photon, 0302 clinical medicine, Insulin resistance, Bone Density, Internal medicine, medicine, Humans, Myotonic Dystrophy, Testosterone, Mass index, Muscle, Skeletal, Pelvic Bones, Genetics (clinical), Bone mineral, business.industry, Skeletal muscle, Middle Aged, medicine.disease, Osteopenia, Bone Diseases, Metabolic, 030104 developmental biology, medicine.anatomical_structure, Endocrinology, Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), business, Body mass index, 030217 neurology & neurosurgery

الوصف: Myotonic dystrophy is a multisystemic disorder affecting skeletal muscle. Male patients have an increased risk of fractures and develop a number of endocrine/metabolic impairments known to adversely affect bone health. The aim of this study was primarily to determine the occurrence of fragility fractures and the bone mineralization status (lumbar spine, hip and total body by dual X-ray absorptiometry) in 36 male patients affected with type 1 myotonic dystrophy and 13 male patients affected with type 2 myotonic dystrophy. Fragility fractures occurred in 15 type 1 and 7 type 2 myotonic dystrophy in non-classical osteoporotic sites, such as metatarses. Hip osteopenia was the most frequent finding, particularly in type 2 (n = 6) than type 1 myotonic dystrophy patients (n = 1), while osteoporosis was rare. Patients with type 1 myotonic dystrophy presented higher total body bone mass density than patients with type 2 myotonic dystrophy and healthy controls and lumbar spine was associated positively with the severity of the disease. Gonadic failure, with low testosterone and reduced INSL3 levels, visceral adiposity and insulin resistance correlated with reduced body mass index in both type 1 and type 2 myotonic dystrophic patients. The independent determinant of fragility fractures were low total body mass index, low blood testosterone and low global muscle mass.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44f89558b3f08f80061fef61cb4c4dc0Test
https://doi.org/10.1016/j.nmd.2019.11.006Test

المؤلفون: Valeria A. Sansone, Francesca Bovis, Richard S. Finkel, Maria Carmela Pera, Eugenio Mercuri, Laura Antonaci, Giorgia Coratti, Fabrizia Chieppa, Marika Pane, Marta Ponzano, Costanza Cutrona

المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-12 (2021)

مصطلحات موضوعية: medicine.medical_specialty, Spinal, Oligonucleotides, Review, Critical review, Nusinersen, Spinal muscular atrophy, Child, Humans, Muscular Atrophy, Spinal, Spinal Muscular Atrophies of Childhood, Motor function, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Internal medicine, medicine, Pharmacology (medical), Time point, Genetics (clinical), business.industry, General Medicine, SMA, medicine.disease, Muscular Atrophy, Meta-analysis, Medicine, Functional status, business, Real world data

الوصف: Background There is an increasing number of papers reporting the real world use of Nusinersen in different cohorts of SMA patients. Main body The aim of this paper was to critically review the literature reporting real world data on motor function in type 2 and 3 patients treated with Nusinersen, subdividing the results according to SMA type, age and type of assessment and performing a meta-analysis of the available results. We also report the available data collected in untreated patients using the same measures. Of the 400 papers identified searching for Nusinersen and spinal muscular atrophy, 19 reported motor function in types 2 and 3: 13 in adults, 4 in children and 2 included both. Twelve papers reported untreated patients’ data. All studies reported positive changes on at least one of the functional measures and at every time point while all-untreated cohorts showed negative changes. Conclusion Our review suggests that Nusinersen provides a favorable benefit in motor function across a wide range of SMA type 2 and 3 patients over a 10–14 month observation period. Although a direct comparison with studies reporting data from untreated patients cannot be made, the longitudinal changes in the treated cohorts (consistently positive) are divergent from those observed in the untreated cohorts (consistently negative). The difference could be observed both in the global cohorts and in smaller groups subdivided according to age, type or functional status.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85a2896e190acd33d257649bc13b1f3dTest
https://doi.org/10.1186/s13023-021-02065-zTest

المؤلفون: Sonia Messina, Claudio Bruno, E. Mazzone, Eugenio Mercuri, Valeria A. Sansone, Claudia Brogna, Gianluca Vita, Francesco Muntoni, Marika Pane, Tiziana Mongini, Giovanni Baranello, Erik H. Niks, Mary Chesshyre, Francesca Magri, Volker Straub, Enrico Bertini, Elena Pegoraro, Luca Bello, Alice Donati, Silvana De Lucia, Stefano C. Previtali, Valeria Ricotti, Adele D'Amico, Jean-Yves Hogrel, Nathalie Goemans, Roberta Battini, Giacomo P. Comi, Laurent Servais, Giorgia Coratti, Federica Ricci, Imelda J. M. de Groot, Luisa Politano, Angela Berardinelli

المصدر: PLoS ONE, 16(6). PUBLIC LIBRARY SCIENCE
PLoS ONE
PLoS ONE, Vol 16, Iss 6, p e0253882 (2021)

مصطلحات موضوعية: Male, Heredity, Genetic Linkage, Epidemiology, Physiology, Duchenne muscular dystrophy, Walking, Duchenne Muscular Dystrophy, Severity of Illness Index, Muscular Dystrophies, Dystrophin, Exon, 0302 clinical medicine, Medical Conditions, Medicine and Health Sciences, 030212 general & internal medicine, Muscular Dystrophy, Longitudinal Studies, Child, Baseline values, Multidisciplinary, Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, Organic Compounds, Men, Exons, Multidisciplinary Sciences, Chemistry, Deletion Mutation, Neurology, X-Linked Traits, Sex Linkage, Ambulatory, Physical Sciences, Disease Progression, Medicine, Science & Technology - Other Topics, Steroids, exon skipping, Research Article, medicine.medical_specialty, Science, Natural history of disease, 03 medical and health sciences, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Internal medicine, medicine, Genetics, Humans, Clinical Genetics, Science & Technology, business.industry, Biological Locomotion, Organic Chemistry, Chemical Compounds, Biology and Life Sciences, Human Genetics, medicine.disease, Duchenne, Human genetics, Exon skipping, Follow-Up Studies, Muscular Dystrophy, Duchenne, Mutation, Clinical trial, Natural History of Disease, Medical Risk Factors, business, 030217 neurology & neurosurgery

الوصف: Introduction The aim of this study was to report 36-month longitudinal changes using the North Star Ambulatory Assessment (NSAA) in ambulant patients affected by Duchenne muscular dystrophy amenable to skip exons 44, 45, 51 or 53. Materials and methods We included 101 patients, 34 had deletions amenable to skip exon 44, 25 exon 45, 19 exon 51, and 28 exon 53, not recruited in any ongoing clinical trials. Five patients were counted to skip exon 51 and 53 since they had a single deletion of exon 52. Results The difference between subgroups (skip 44, 45, 51 and 53) was significant at 12 (p = 0.043), 24 (p = 0.005) and 36 months (p≤0.001). Discussion Mutations amenable to skip exons 53 and 51 had lower baseline values and more negative changes than the other subgroups while those amenable to skip exon 44 had higher scores both at baseline and at follow up. Conclusion Our results confirm different progression of disease in subgroups of patients with deletions amenable to skip different exons. This information is relevant as current long term clinical trials are using the NSAA in these subgroups of mutations.

وصف الملف: application/pdf; Electronic-eCollection

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de7208ef0a5c3984e1eb8d2853199ed7Test
http://hdl.handle.net/1887/3249481Test