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Malformations of cortical development (MCDs) are neurodevelopmental disorders that result from abnormal development of the cerebral cortex in utero. MCDs place a substantial burden on affected individuals, their families and societies worldwide, as these individuals can experience lifelong drug-resistant epilepsy, cerebral palsy, feeding difficulties, intellectual disability and other neurological and behavioural anomalies. The diagnostic pathway for MCDs is complex owing to wide variations in presentation and aetiology, thereby hampering timely and adequate management. In this article, the international MCD network Neuro-MIG provides consensus recommendations to aid both expert and non-expert clinicians in the diagnostic work-up of MCDs with the aim of improving patient management worldwide. We reviewed the literature on clinical presentation, aetiology and diagnostic approaches for the main MCD subtypes and collected data on current practices and recommendations from clinicians and diagnostic laboratories within Neuro-MIG. We reached consensus by 42 professionals from 20 countries, using expert discussions and a Delphi consensus process. We present a diagnostic workflow that can be applied to any individual with MCD and a comprehensive list of MCD-related genes with their associated phenotypes. The workflow is designed to maximize the diagnostic yield and increase the number of patients receiving personalized care and counselling on prognosis and recurrence risk.
Renske Oegema; Tahsin Stefan Barakat; Martina Wilke; Katrien Stouffs; Dina Amrom; Eleonora Aronica; Nadia Bahi-Buisson; Valerio Conti; Andrew E. Fry; Tobias Geis; David Gomez Andres; Elena Parrini; Ivana Pogledic; Edith Said; Doriette Soler; Luis M. Valor; Maha S. Zaki; Ghayda Mirzaa; William B. Dobyns; Orly Reiner; Renzo Guerrini; Daniela T. Pilz; Ute Hehr; Richard J. Leventer; Anna C. Jansen; Grazia M. S. Mancini; Nataliya Di Donato. International consensus recommendations on the diagnostic work-up for malformations of cortical development. Nature Reviews Neurology 2020, 16, 618 -635.
AMA StyleRenske Oegema, Tahsin Stefan Barakat, Martina Wilke, Katrien Stouffs, Dina Amrom, Eleonora Aronica, Nadia Bahi-Buisson, Valerio Conti, Andrew E. Fry, Tobias Geis, David Gomez Andres, Elena Parrini, Ivana Pogledic, Edith Said, Doriette Soler, Luis M. Valor, Maha S. Zaki, Ghayda Mirzaa, William B. Dobyns, Orly Reiner, Renzo Guerrini, Daniela T. Pilz, Ute Hehr, Richard J. Leventer, Anna C. Jansen, Grazia M. S. Mancini, Nataliya Di Donato. International consensus recommendations on the diagnostic work-up for malformations of cortical development. Nature Reviews Neurology. 2020; 16 (11):618-635.
Chicago/Turabian StyleRenske Oegema; Tahsin Stefan Barakat; Martina Wilke; Katrien Stouffs; Dina Amrom; Eleonora Aronica; Nadia Bahi-Buisson; Valerio Conti; Andrew E. Fry; Tobias Geis; David Gomez Andres; Elena Parrini; Ivana Pogledic; Edith Said; Doriette Soler; Luis M. Valor; Maha S. Zaki; Ghayda Mirzaa; William B. Dobyns; Orly Reiner; Renzo Guerrini; Daniela T. Pilz; Ute Hehr; Richard J. Leventer; Anna C. Jansen; Grazia M. S. Mancini; Nataliya Di Donato. 2020. "International consensus recommendations on the diagnostic work-up for malformations of cortical development." Nature Reviews Neurology 16, no. 11: 618-635.
This study examines the value of a goat cheese naturally enriched in polyunsaturated fatty acids (PUFA) (n-3 PUFA and conjugated linolenic acid (CLA)) as means of improving cardiovascular and inflammatory health. Sixty-eight overweight and obese subjects (BMI ≥ 27 and
Cristina Santurino; Bricia López-Plaza; Javier Fontecha; María V. Calvo; Laura M. Bermejo; David Gómez-Andrés; Carmen Gómez-Candela. Consumption of Goat Cheese Naturally Rich in Omega-3 and Conjugated Linoleic Acid Improves the Cardiovascular and Inflammatory Biomarkers of Overweight and Obese Subjects: A Randomized Controlled Trial. Nutrients 2020, 12, 1315 .
AMA StyleCristina Santurino, Bricia López-Plaza, Javier Fontecha, María V. Calvo, Laura M. Bermejo, David Gómez-Andrés, Carmen Gómez-Candela. Consumption of Goat Cheese Naturally Rich in Omega-3 and Conjugated Linoleic Acid Improves the Cardiovascular and Inflammatory Biomarkers of Overweight and Obese Subjects: A Randomized Controlled Trial. Nutrients. 2020; 12 (5):1315.
Chicago/Turabian StyleCristina Santurino; Bricia López-Plaza; Javier Fontecha; María V. Calvo; Laura M. Bermejo; David Gómez-Andrés; Carmen Gómez-Candela. 2020. "Consumption of Goat Cheese Naturally Rich in Omega-3 and Conjugated Linoleic Acid Improves the Cardiovascular and Inflammatory Biomarkers of Overweight and Obese Subjects: A Randomized Controlled Trial." Nutrients 12, no. 5: 1315.
Gait is a basic cognitive purposeful action that has been shown to be altered in late stages of neurodegenerative dementias. Nevertheless, alterations are less clear in mild forms of dementia, and the potential use of gait analysis as a biomarker of initial cognitive decline has hitherto mostly been neglected. Herein, we report the results of a study of gait kinematic time series for two groups of patients (mild cognitive impairment and mild Alzheimer’s disease) and a group of matched control subjects. Two metrics based on permutation patterns are considered, respectively measuring the complexity and irreversibility of the time series. Results indicate that kinematic disorganisation is present in early phases of cognitive impairment; in addition, they depict a rich scenario, in which some joint movements display an increased complexity and irreversibility, while others a marked decrease. Beyond their potential use as biomarkers, complexity and irreversibility metrics can open a new door to the understanding of the role of the nervous system in gait, as well as its adaptation and compensatory mechanisms.
Juan-Andrés Martín-Gonzalo; Irene Pulido-Valdeolivas; Yu Wang; Ting Wang; Guadalupe Chiclana-Actis; Maria Del Carmen Algarra-Lucas; Itziar Palmí-Cortés; Jorge Fernández Travieso; Maria Dolores Torrecillas-Narváez; Ambrosio A. Miralles-Martinez; Estrella Rausell; David Gómez-Andrés; Massimiliano Zanin. Permutation Entropy and Irreversibility in Gait Kinematic Time Series from Patients with Mild Cognitive Decline and Early Alzheimer’s Dementia. Entropy 2019, 21, 868 .
AMA StyleJuan-Andrés Martín-Gonzalo, Irene Pulido-Valdeolivas, Yu Wang, Ting Wang, Guadalupe Chiclana-Actis, Maria Del Carmen Algarra-Lucas, Itziar Palmí-Cortés, Jorge Fernández Travieso, Maria Dolores Torrecillas-Narváez, Ambrosio A. Miralles-Martinez, Estrella Rausell, David Gómez-Andrés, Massimiliano Zanin. Permutation Entropy and Irreversibility in Gait Kinematic Time Series from Patients with Mild Cognitive Decline and Early Alzheimer’s Dementia. Entropy. 2019; 21 (9):868.
Chicago/Turabian StyleJuan-Andrés Martín-Gonzalo; Irene Pulido-Valdeolivas; Yu Wang; Ting Wang; Guadalupe Chiclana-Actis; Maria Del Carmen Algarra-Lucas; Itziar Palmí-Cortés; Jorge Fernández Travieso; Maria Dolores Torrecillas-Narváez; Ambrosio A. Miralles-Martinez; Estrella Rausell; David Gómez-Andrés; Massimiliano Zanin. 2019. "Permutation Entropy and Irreversibility in Gait Kinematic Time Series from Patients with Mild Cognitive Decline and Early Alzheimer’s Dementia." Entropy 21, no. 9: 868.
INTRODUCTION The manner in which imaging patterns change over the disease course and with increasing disability in dysferlinopathy is not fully understood. METHODS Fibroadipose infiltration of 61 muscles was scored based on whole‐body MRI of 33 patients with dysferlinopathy and represented in a heatmap. We trained random forests to predict disease duration, motor function measure dimension 1 (MFM‐D1) and modified Rankin scale (mRS) based on muscle scoring and selected the most important muscle for predictions. RESULTS Heatmap delineates positive and negative fingerprints in dysferlinopathy. Disease duration is related to infiltration of infraspinatus, teres major‐minor and supraspinatus muscles. MFM‐D1 decreases with higher infiltration of teres major‐minor, triceps and sartorius. mRS is related to infiltration of vastus medialis, gracilis, infraspinatus and sartorius. DISCUSSION Dysferlinopathy shows a recognizable muscle MRI pattern. Fibroadipose infiltration in specific muscles of the thigh and the upper limb appears to be an important marker for disease progression. This article is protected by copyright. All rights reserved.
David Gómez-Andrés; Jorge Díaz; Francina Munell Md; Ángel Sánchez-Montáñez; Irene Pulido‐Valdeolivas Md; Lionel Suazo; Cristián Garrido Mt; Susana Quijano-Roy; Jorge A. Bevilacqua Md. Disease duration and disability in dysfeRlinopathy can be described by muscle imaging using heatmaps and random forests. Muscle & Nerve 2018, 59, 436 -444.
AMA StyleDavid Gómez-Andrés, Jorge Díaz, Francina Munell Md, Ángel Sánchez-Montáñez, Irene Pulido‐Valdeolivas Md, Lionel Suazo, Cristián Garrido Mt, Susana Quijano-Roy, Jorge A. Bevilacqua Md. Disease duration and disability in dysfeRlinopathy can be described by muscle imaging using heatmaps and random forests. Muscle & Nerve. 2018; 59 (4):436-444.
Chicago/Turabian StyleDavid Gómez-Andrés; Jorge Díaz; Francina Munell Md; Ángel Sánchez-Montáñez; Irene Pulido‐Valdeolivas Md; Lionel Suazo; Cristián Garrido Mt; Susana Quijano-Roy; Jorge A. Bevilacqua Md. 2018. "Disease duration and disability in dysfeRlinopathy can be described by muscle imaging using heatmaps and random forests." Muscle & Nerve 59, no. 4: 436-444.
Introduction Particular fibroadipose infiltration patterns have been recently described by muscle imaging in congenital and later‐onset forms of LMNA‐related muscular dystrophies (LMNA‐RD). Methods Scores for fibroadipose infiltration of 23 lower limb muscles in 34 patients with LMNA‐RD were collected from heatmaps of two previous studies. Scoring systems were homogenized. Relationships between muscle infiltration and disease duration and age of onset were modeled with random forests. Results The pattern of infiltration differs according to disease duration, but not to age of disease onset. The muscles whose progression best predicts disease duration were semitendinosus, biceps femoris long head, gluteus medius and semimembranosus. Discussion In LMNA‐RD, synthetic analysis of lower limb muscle infiltration did not find major differences between forms with different ages of onset, but allowed the identification of muscles with characteristic infiltration during disease progression. Monitoring of these specific muscles by quantitative MRI may provide useful imaging biomarkers in LMNA‐RD. This article is protected by copyright. All rights reserved.
David Gómez-Andrés; Jordi Díaz-Manera; Aida Alejaldre Md; Irene Pulido-Valdeolivas; Laura González-Mera; Montse Olive; Juan José Vilchez Md; Adolfo López De Munain Md; Carmen Paradas; Nuria Muelas; Ángel Sánchez-Montáñez; Alicia Alonso-Jimenez; Marta Gómez García De La Banda; Ivana Dabaj; Gisèle Bonne; Francina Munell Md; Robert Y. Carlier; Susana Quijano-Roy. Muscle imaging in laminopathies: Synthesis study identifies meaningful muscles for follow-up. Muscle & Nerve 2018, 58, 812 -817.
AMA StyleDavid Gómez-Andrés, Jordi Díaz-Manera, Aida Alejaldre Md, Irene Pulido-Valdeolivas, Laura González-Mera, Montse Olive, Juan José Vilchez Md, Adolfo López De Munain Md, Carmen Paradas, Nuria Muelas, Ángel Sánchez-Montáñez, Alicia Alonso-Jimenez, Marta Gómez García De La Banda, Ivana Dabaj, Gisèle Bonne, Francina Munell Md, Robert Y. Carlier, Susana Quijano-Roy. Muscle imaging in laminopathies: Synthesis study identifies meaningful muscles for follow-up. Muscle & Nerve. 2018; 58 (6):812-817.
Chicago/Turabian StyleDavid Gómez-Andrés; Jordi Díaz-Manera; Aida Alejaldre Md; Irene Pulido-Valdeolivas; Laura González-Mera; Montse Olive; Juan José Vilchez Md; Adolfo López De Munain Md; Carmen Paradas; Nuria Muelas; Ángel Sánchez-Montáñez; Alicia Alonso-Jimenez; Marta Gómez García De La Banda; Ivana Dabaj; Gisèle Bonne; Francina Munell Md; Robert Y. Carlier; Susana Quijano-Roy. 2018. "Muscle imaging in laminopathies: Synthesis study identifies meaningful muscles for follow-up." Muscle & Nerve 58, no. 6: 812-817.
Las distrofias musculares congénitas (DMC) son enfermedades musculares hereditarias muy heterogéneas. Su diagnóstico se basa en criterios histológicos (signos distróficos en músculo) y clínicos (de inicio neonatal o durante la infancia precoz, antes de adquirir la marcha). Los lactantes presentan hipotonía, movilidad disminuida y retraso o estancamiento del desarrollo motor. Son enfermedades progresivas, con frecuente aparición de retracciones articulares, rigidez y deformidad de columna, insuficiencia respiratoria y, en algunas formas, afectación cardiaca. Por ello, necesitan un manejo multidisciplinario neuro-ortopédico, cardio-respiratorio y frecuentemente quirúrgico. Los valores de las enzimas musculares (CK) permiten orientar el diagnóstico. Formas con aumento marcado de CK guían hacia la DMC con déficit de merosina (gen LAMA2) y las distroglicanopatías, muy heterogéneas genéticamente. Ambas pueden asociar anomalías cerebrales y retraso mental (frecuente en las distroglicanopatías), o limitarse a la sustancia blanca cerebral, sin deterioro cognitivo (merosinopatías). La biopsia muscular ayuda en el diagnóstico detectando el déficit de merosina o la glicosilación anómala de distroglicano. Las formas de DMC sin aumento importante de CK no presentan afectación cerebral y se diagnostican frecuentemente gracias a la identificación de signos clínicos como hiperlaxitud distal en la DMC de Ullrich (genes COL6), rigidez espinal selectiva y fallo respiratorio en las selenopatías (gen SEPN1) o “drop-head” en las laminopatías (gen LMNA). La resonancia magnética muscular es muy útil para confirmar la sospecha clínica y orientar casos difíciles. La identificación genética y el desarrollo de modelos animales están ayudando a conocer mejor la fisiopatología de estas enfermedades, aumentando las posibilidades de encontrar terapias para el futuro. Congenital muscular dystrophies (CMDs) are inherited muscle disorders with a high clinical and genetic heterogeneity. Diagnostic criteria are histological (dystrophy in muscle biopsy) and clinical (onset at birth or before the age of walking). Affected infants typically appear “floppy” with low muscle tone and poor spontaneous movements. Patients may present with delay or arrest of gross motor development. CMDs show progressive weakness, joint contractures, spinal stiffness and deformities, respiratory compromise and certain types may develop cardiac symptoms. Multidisciplinary management is required, including neuro-orthopedic, cardio-respiratory and often surgical treatment. Dosage of muscle enzymes (CK) helps in the diagnostic pathway. Marked increase is observed in merosin deficient CMD (LAMA2 gene) and in the dystroglycanopathies, which are genetically very heterogeneous. Both disorders may show central nervous system abnormalities, being often associated with mental retardation in dystroglycanopathies, while merosinopathies show only striking white matter...
Susana Quijano-Roy; Marta Gómez-Garcia De La Banda. Distrofias musculares congénitas. Revista Médica Clínica Las Condes 2018, 29, 530 -543.
AMA StyleSusana Quijano-Roy, Marta Gómez-Garcia De La Banda. Distrofias musculares congénitas. Revista Médica Clínica Las Condes. 2018; 29 (5):530-543.
Chicago/Turabian StyleSusana Quijano-Roy; Marta Gómez-Garcia De La Banda. 2018. "Distrofias musculares congénitas." Revista Médica Clínica Las Condes 29, no. 5: 530-543.
Introduction: MYH7 gene mutations are related to a heterogeneous group of skeletal and cardiac myopathies. Methods: We evaluated clinical and muscle MRI changes in patients with mutations in the rod domain of MYH7, including 1 with mosaicism and 3 with novel missense mutations. Results: Patients presented in childhood with a distal and axial phenotype. Biopsy findings were variable. Half of the cases displaying some type of core pathology, including minicores and eccentric cores. Most patients demonstrated internal bands of infiltration (“inverted‐collagen‐VI sign”) in multiple muscles, particularly the soleus, and prominent atrophy and fatty infiltration of the tongue and the paraspinal, gluteus minimus, sartorius, gracilis, tibialis anterior, and extensor digitorum longus muscles. Discussion: Muscle imaging findings in patients with axial involvement provide significant clues permitting the distinction between MYH7‐related myopathies and other axial myopathies such as those related to SEPN1 and LMNA genes. Muscle Nerve 58: 224–234, 2018
Ivana Dabaj; Robert Y Carlier; David Gómez‐Andrés Md; Osório Abath Neto Md; Enrico Bertini; Adele D'Amico; Fabiana Fattori; Yann Péréon; Claudia Castiglioni; Eliana Rodillo; Michela Catteruccia; Júlio Brandão Guimarães Md; Acary Souza Bulle Oliveira Md; Umbertina Conti Reed Md; Lilia Mesrob; Doris Lechner; Anne Boland; Jean‐François Deleuze; Edoardo Malfatti; Carsten Bonnemann; Jocelyn Laporte; Norma Romero; Adrien Felter; Susana Quijano‐Roy Md; Cristiane De Araujo Martins Moreno; Edmar Zanoteli Md. Clinical and imaging hallmarks of the MYH7 ‐related myopathy with severe axial involvement. Muscle & Nerve 2018, 58, 224 -234.
AMA StyleIvana Dabaj, Robert Y Carlier, David Gómez‐Andrés Md, Osório Abath Neto Md, Enrico Bertini, Adele D'Amico, Fabiana Fattori, Yann Péréon, Claudia Castiglioni, Eliana Rodillo, Michela Catteruccia, Júlio Brandão Guimarães Md, Acary Souza Bulle Oliveira Md, Umbertina Conti Reed Md, Lilia Mesrob, Doris Lechner, Anne Boland, Jean‐François Deleuze, Edoardo Malfatti, Carsten Bonnemann, Jocelyn Laporte, Norma Romero, Adrien Felter, Susana Quijano‐Roy Md, Cristiane De Araujo Martins Moreno, Edmar Zanoteli Md. Clinical and imaging hallmarks of the MYH7 ‐related myopathy with severe axial involvement. Muscle & Nerve. 2018; 58 (2):224-234.
Chicago/Turabian StyleIvana Dabaj; Robert Y Carlier; David Gómez‐Andrés Md; Osório Abath Neto Md; Enrico Bertini; Adele D'Amico; Fabiana Fattori; Yann Péréon; Claudia Castiglioni; Eliana Rodillo; Michela Catteruccia; Júlio Brandão Guimarães Md; Acary Souza Bulle Oliveira Md; Umbertina Conti Reed Md; Lilia Mesrob; Doris Lechner; Anne Boland; Jean‐François Deleuze; Edoardo Malfatti; Carsten Bonnemann; Jocelyn Laporte; Norma Romero; Adrien Felter; Susana Quijano‐Roy Md; Cristiane De Araujo Martins Moreno; Edmar Zanoteli Md. 2018. "Clinical and imaging hallmarks of the MYH7 ‐related myopathy with severe axial involvement." Muscle & Nerve 58, no. 2: 224-234.
Cerebral palsy is a physical impairment stemming from a brain lesion at perinatal time, most of the time resulting in gait abnormalities: the first cause of severe disability in childhood. Gait study, and instrumental gait analysis in particular, has been receiving increasing attention in the last few years, for being the complex result of the interactions between different brain motor areas and thus a proxy in the understanding of the underlying neural dynamics. Yet, and in spite of its importance, little is still known about how the brain adapts to cerebral palsy and to its impaired gait and, consequently, about the best strategies for mitigating the disability. In this contribution, we present the hitherto first analysis of joint kinematics data using permutation entropy, comparing cerebral palsy children with a set of matched control subjects. We find a significant increase in the permutation entropy for the former group, thus indicating a more complex and erratic neural control of joints and a non-trivial relationship between the permutation entropy and the gait speed. We further show how this information theory measure can be used to train a data mining model able to forecast the child’s condition. We finally discuss the relevance of these results in clinical applications and specifically in the design of personalized medicine interventions.
Massimiliano Zanin; David Gómez-Andrés; Irene Pulido-Valdeolivas; Juan Andrés Martín-Gonzalo; Javier López-López; Samuel Ignacio Pascual-Pascual; Estrella Rausell. Characterizing Normal and Pathological Gait through Permutation Entropy. Entropy 2018, 20, 77 .
AMA StyleMassimiliano Zanin, David Gómez-Andrés, Irene Pulido-Valdeolivas, Juan Andrés Martín-Gonzalo, Javier López-López, Samuel Ignacio Pascual-Pascual, Estrella Rausell. Characterizing Normal and Pathological Gait through Permutation Entropy. Entropy. 2018; 20 (1):77.
Chicago/Turabian StyleMassimiliano Zanin; David Gómez-Andrés; Irene Pulido-Valdeolivas; Juan Andrés Martín-Gonzalo; Javier López-López; Samuel Ignacio Pascual-Pascual; Estrella Rausell. 2018. "Characterizing Normal and Pathological Gait through Permutation Entropy." Entropy 20, no. 1: 77.
Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disorder that affects the cerebellar system and other subcortical regions of the brain. As for other cerebellar diseases, the severity of this type of ataxia can be assessed with the Scale for Assessment and Rating of Ataxia (SARA) which gives a total score that reflects functional impairment out of 8 cerebellar function tests. SCA3 patients score profile is heterogeneous on at the start of follow up. This study investigates possible patterns in those profiles and analyses the impact of other usually concurrent signs of impairment of extracerebellar motor systems in that profile variability by means of multivariate statistical approaches. Seventeen patients with SCA3 underwent systematic anamnesis, neurological and SARA assessment, visual evaluation of (123)I-Ioflupane (DaTSCAN) single-photon emission computed tomography (SPECT) imaging and electrophysiological studies (nerve conduction and electromyography). Patterns in the profiles of SARA item scores were investigated by hierarchical clustering after multivariate correspondence analysis. A network analysis was used to represent relationships between SARA item scores, clinical, genetic and neurological examination parameters as well as abnormalities of DaTSCAN SPECT imaging and electrophysiological studies. The most frequently altered SARA items in all patients are gait and stance, and three profiles of SCA3 patients can be distinguished depending mainly on their degree of impairment in those two items. Other SARA items like the score on heel-shin slide contribute less to the classification. Network analysis shows that SARA item scores configure a single domain that is independent of the size of the mutated expanded allele and age of onset, which are, in turn closely and inversely correlated. The severity of cerebellar dysfunction is correlated with longer disease duration, altered visual evaluation of DaTSCAN SPECT imaging and decreased patellar reflexes. Neither the presence of pyramidal or extrapyramidal signs nor the intensity of polyneuropathy is correlated with the SARA items scores. Pattern recognition approaches are useful tools to describe clinical phenotypes of ataxias and to identify particular configurations of cerebellar signs.
Irene Pulido-Valdeolivas; David Gómez-Andrés; Irene Sanz-Gallego; Estrella Rausell; Javier Arpa. Patterns of motor signs in spinocerebellar ataxia type 3 at the start of follow-up in a reference unit. Cerebellum & Ataxias 2016, 3, 4 .
AMA StyleIrene Pulido-Valdeolivas, David Gómez-Andrés, Irene Sanz-Gallego, Estrella Rausell, Javier Arpa. Patterns of motor signs in spinocerebellar ataxia type 3 at the start of follow-up in a reference unit. Cerebellum & Ataxias. 2016; 3 (1):4.
Chicago/Turabian StyleIrene Pulido-Valdeolivas; David Gómez-Andrés; Irene Sanz-Gallego; Estrella Rausell; Javier Arpa. 2016. "Patterns of motor signs in spinocerebellar ataxia type 3 at the start of follow-up in a reference unit." Cerebellum & Ataxias 3, no. 1: 4.
Introduction We sought to define the whole‐body MRI (WB‐MRI) fingerprint of muscle involvement in pediatric LMNA‐related dystrophy (LMNA‐RD) and to compare it with SEPN1‐related myopathy (SEPN1‐RM). Methods Signal abnormality and atrophy in 109 muscles were scored by semiquantitative scales in 8 children with LMNA‐RD and represented by heatmaps. These features were compared with those from 9 SEPN1‐RM patients by random forests. Results LMNA‐RD showed predominant signal abnormalities in erector spinae, serratus anterior, subscapularis, gluteus medius and minimus, vastii, adductor magnus and longus, semimembranosus, medial gastrocnemius, and soleus muscles. Psoas, sternocleidomastoid, gracilis, and sartorius muscles often had normal signal but showed atrophy. Cranial, flexor digitorum longus, and tibialis posterior muscles were spared. According to random forests, atrophied semimembranosus in SEPN1‐RM was the most relevant feature to distinguish these patients from LMNA‐RD. Conclusions A selective pattern in WB‐MRI for pediatric LMNA‐RD exists and can be differentiated from SEPN1‐RM by machine learning. Muscle Nerve 54: 192–202, 2016
David Gómez-Andrés; Ivana Dabaj; Dominique Mompoint; Karolina Hankiewicz; Viviane Azzi; Christine Ioos; Norma B. Romero Md; Rabah BEN Yaou; Jean Bergounioux; Gisèle Bonne; Pascale Richard Md; Brigitte Estournet; Robert Yves-Carlier; Susana Quijano-Roy. Pediatric laminopathies: Whole-body magnetic resonance imaging fingerprint and comparison with Sepn1 myopathy. Muscle & Nerve 2015, 54, 192 -202.
AMA StyleDavid Gómez-Andrés, Ivana Dabaj, Dominique Mompoint, Karolina Hankiewicz, Viviane Azzi, Christine Ioos, Norma B. Romero Md, Rabah BEN Yaou, Jean Bergounioux, Gisèle Bonne, Pascale Richard Md, Brigitte Estournet, Robert Yves-Carlier, Susana Quijano-Roy. Pediatric laminopathies: Whole-body magnetic resonance imaging fingerprint and comparison with Sepn1 myopathy. Muscle & Nerve. 2015; 54 (2):192-202.
Chicago/Turabian StyleDavid Gómez-Andrés; Ivana Dabaj; Dominique Mompoint; Karolina Hankiewicz; Viviane Azzi; Christine Ioos; Norma B. Romero Md; Rabah BEN Yaou; Jean Bergounioux; Gisèle Bonne; Pascale Richard Md; Brigitte Estournet; Robert Yves-Carlier; Susana Quijano-Roy. 2015. "Pediatric laminopathies: Whole-body magnetic resonance imaging fingerprint and comparison with Sepn1 myopathy." Muscle & Nerve 54, no. 2: 192-202.
Identifying the mutated gene that produces a particular muscle dystrophy is difficult because different genotypes may share a phenotype and vice versa. Muscle MRI is a useful tool to recognize patterns of muscle involvement in patients with muscle dystrophies and to guide the diagnosis process. The radiologic pattern of muscle involvement in patients with mutations in the EMD and LMNA genes has not been completely established. Our objective is to describe the pattern of muscle fatty infiltration in patients with mutations in the EMD and in the LMNA genes and to search for differences between the two genotypes that could be helpful to guide the genetic tests. We conducted a national multicenter study in 42 patients, 10 with mutations in the EMD gene and 32 with mutations in the LMNA gene. MRI or CT was used to study the muscles from trunk to legs. Patients had a similar pattern of fatty infiltration regardless of whether they had the mutation in the EMD or LMNA gene. The main muscles involved were the paravertebral, glutei, quadriceps, biceps, semitendinosus, semimembranosus, adductor major, soleus, and gastrocnemius. Involvement of peroneus muscle, which was more frequently affected in patients with mutations in the EMD gene, was useful to differentiate between the two genotypes. Muscle MRI/CT identifies a similar pattern of muscle fatty infiltration in patients with mutations in the EMD or the LMNA genes. The involvement of peroneus muscles could be useful to conduct genetic analysis in patients with an EDMD phenotype.
Jordi Díaz-Manera; Aida Alejaldre; Lidia Gonzalez; Montse Olive; David Gómez-Andrés; Nuria Muelas; Juan J Vilchez; Jaume Llauger; Pilar Carbonell; Celedonio Marquez-Infante; Roberto Fernandez-Torron; Juan José Poza; Adolfo López de Munáin; Lidia González-Quereda; Sonia Mirabet; Jordi Clarimon; Pía Gallano; Ricard Rojas-García; Eduard Gallardo; Isabel Illa. Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes. Neuromuscular Disorders 2015, 26, 33 -40.
AMA StyleJordi Díaz-Manera, Aida Alejaldre, Lidia Gonzalez, Montse Olive, David Gómez-Andrés, Nuria Muelas, Juan J Vilchez, Jaume Llauger, Pilar Carbonell, Celedonio Marquez-Infante, Roberto Fernandez-Torron, Juan José Poza, Adolfo López de Munáin, Lidia González-Quereda, Sonia Mirabet, Jordi Clarimon, Pía Gallano, Ricard Rojas-García, Eduard Gallardo, Isabel Illa. Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes. Neuromuscular Disorders. 2015; 26 (1):33-40.
Chicago/Turabian StyleJordi Díaz-Manera; Aida Alejaldre; Lidia Gonzalez; Montse Olive; David Gómez-Andrés; Nuria Muelas; Juan J Vilchez; Jaume Llauger; Pilar Carbonell; Celedonio Marquez-Infante; Roberto Fernandez-Torron; Juan José Poza; Adolfo López de Munáin; Lidia González-Quereda; Sonia Mirabet; Jordi Clarimon; Pía Gallano; Ricard Rojas-García; Eduard Gallardo; Isabel Illa. 2015. "Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes." Neuromuscular Disorders 26, no. 1: 33-40.
I. Pulido-Valdeolivas; David Gómez-Andrés; I. Sanz-Gallego; J. Arpa-Gutiérrez. «SARAgrama»: una propuesta de representación gráfica en la evolución de las ataxias. Neurología 2015, 30, 387 -388.
AMA StyleI. Pulido-Valdeolivas, David Gómez-Andrés, I. Sanz-Gallego, J. Arpa-Gutiérrez. «SARAgrama»: una propuesta de representación gráfica en la evolución de las ataxias. Neurología. 2015; 30 (6):387-388.
Chicago/Turabian StyleI. Pulido-Valdeolivas; David Gómez-Andrés; I. Sanz-Gallego; J. Arpa-Gutiérrez. 2015. "«SARAgrama»: una propuesta de representación gráfica en la evolución de las ataxias." Neurología 30, no. 6: 387-388.
Introduction: The aim of this study was to delineate the spectrum of muscle involvement in patients with a myopathy due to mutations in SEPN1 (SEPN1‐RM). Methods: Whole‐body magnetic resonance imaging (WBMRI) was used in 9 patients using T1‐weighted turbo spin–echo (T1‐TSE) sequences and short tau inversion recovery (STIR) in 5 patients. Results: Analysis of signal and volume abnormalities by T1‐TSE sequences in 109 muscles showed a homogeneous pattern characterized by a recognizable combination of atrophy and signal abnormalities in selected muscles of the neck, trunk, pelvic girdle, and lower limbs. Severe wasting of sternocleidomastoid muscle and atrophy of semimembranosus were detected. Selective paraspinal, gluteus maximus, and thigh muscle involvement was also observed. The lower leg was less constantly affected. Conclusions: WBMRI scoring of altered signal and atrophy in muscle can be represented by heatmaps and is associated with a homogeneous, recognizable pattern in SEPN1‐RM, distinct from other genetic muscle diseases. Muscle Nerve 52: 728–735, 2015
Karolina Hankiewicz; Robert Y. Carlier; Leila Lazaro; Javier Linzoain; Christine Barnerias; David Gómez-Andrés; Daniela Avila-Smirnow; Ana Ferreiro; Brigitte Estournet; Pascale Guicheney; Dominique P. Germain Md; Pascale Richard Md; Sebastian Bulacio; Dominique Mompoint; Susana Quijano-Roy. Whole-body muscle magnetic resonance imaging inSEPN1-related myopathy shows a homogeneous and recognizable pattern. Muscle & Nerve 2015, 52, 728 -735.
AMA StyleKarolina Hankiewicz, Robert Y. Carlier, Leila Lazaro, Javier Linzoain, Christine Barnerias, David Gómez-Andrés, Daniela Avila-Smirnow, Ana Ferreiro, Brigitte Estournet, Pascale Guicheney, Dominique P. Germain Md, Pascale Richard Md, Sebastian Bulacio, Dominique Mompoint, Susana Quijano-Roy. Whole-body muscle magnetic resonance imaging inSEPN1-related myopathy shows a homogeneous and recognizable pattern. Muscle & Nerve. 2015; 52 (5):728-735.
Chicago/Turabian StyleKarolina Hankiewicz; Robert Y. Carlier; Leila Lazaro; Javier Linzoain; Christine Barnerias; David Gómez-Andrés; Daniela Avila-Smirnow; Ana Ferreiro; Brigitte Estournet; Pascale Guicheney; Dominique P. Germain Md; Pascale Richard Md; Sebastian Bulacio; Dominique Mompoint; Susana Quijano-Roy. 2015. "Whole-body muscle magnetic resonance imaging inSEPN1-related myopathy shows a homogeneous and recognizable pattern." Muscle & Nerve 52, no. 5: 728-735.
Thyroid hormones have a key role in both the developing and adult central nervous system and skeletal muscle. The thyroid gland produces mainly thyroxine (T4) but the intracellular concentrations of 3,5,3′-triiodothyronine (T3; the transcriptionally active hormone) in the central nervous system and skeletal muscle are modulated by the activity of type 2 deiodinase (D2). To date no neurological syndrome has been associated with mutations in the DIO2 gene and previous studies in young and juvenile D2-knockout mice (D2KO) did not find gross neurological alterations, possibly due to compensatory mechanisms. This study aims to analyze the motor phenotype of 3-and-6-month-old D2KO mice to evaluate the role of D2 on the motor system at adult stages in which compensatory mechanisms could have failed. Motor abilities were explored by validated tests. In the footprint test, D2KO showed an altered global gait pattern (mice walked slower, with shorter strides and with a hindlimb wider base of support than wild-type mice). No differences were detected in the balance beam test. However, a reduced latency to fall was found in the rotarod, coat-hanger and four limb hanging wire tests indicating impairment on coordination and prehensile reflex and a reduction of muscle strength. In histological analyses of cerebellum and skeletal muscle, D2KO mice did not present gross structural abnormalities. Thyroid hormones levels and deiodinases activities were also determined. In D2KO mice, despite euthyroid T3 and high T4 plasma levels, T3 levels were significantly reduced in cerebral cortex (48% reduction) and skeletal muscle (33% reduction), but not in the cerebellum where other deiodinase (type 1) is expressed. The motor alterations observed in D2KO mice indicate an important role for D2 in T3 availability to maintain motor function and muscle strength. Our results suggest a possible implication of D2 in motor disorders.
Soledad Bárez-López; Daniel Bosch-García; David Gómez-Andrés; Irene Pulido-Valdeolivas; Ana Montero-Pedrazuela; Maria Jesus Obregon; Ana Guadaño-Ferraz. Abnormal Motor Phenotype at Adult Stages in Mice Lacking Type 2 Deiodinase. PLOS ONE 2014, 9, e103857 .
AMA StyleSoledad Bárez-López, Daniel Bosch-García, David Gómez-Andrés, Irene Pulido-Valdeolivas, Ana Montero-Pedrazuela, Maria Jesus Obregon, Ana Guadaño-Ferraz. Abnormal Motor Phenotype at Adult Stages in Mice Lacking Type 2 Deiodinase. PLOS ONE. 2014; 9 (8):e103857.
Chicago/Turabian StyleSoledad Bárez-López; Daniel Bosch-García; David Gómez-Andrés; Irene Pulido-Valdeolivas; Ana Montero-Pedrazuela; Maria Jesus Obregon; Ana Guadaño-Ferraz. 2014. "Abnormal Motor Phenotype at Adult Stages in Mice Lacking Type 2 Deiodinase." PLOS ONE 9, no. 8: e103857.
David Gómez-Andrés; Irene Pulido-Valdeolivas; Juan Andrés Martín-Gonzalo; Javier López-López; Ignacio Martínez-Caballero; Enrique Gómez-Barrena; Estrella Rausell. [External evaluation of gait and functional changes after a single-session multiple myofibrotenotomy in school-aged children with spastic diplegia]. Revista de Neurología 2014, 58, 1 .
AMA StyleDavid Gómez-Andrés, Irene Pulido-Valdeolivas, Juan Andrés Martín-Gonzalo, Javier López-López, Ignacio Martínez-Caballero, Enrique Gómez-Barrena, Estrella Rausell. [External evaluation of gait and functional changes after a single-session multiple myofibrotenotomy in school-aged children with spastic diplegia]. Revista de Neurología. 2014; 58 (6):1.
Chicago/Turabian StyleDavid Gómez-Andrés; Irene Pulido-Valdeolivas; Juan Andrés Martín-Gonzalo; Javier López-López; Ignacio Martínez-Caballero; Enrique Gómez-Barrena; Estrella Rausell. 2014. "[External evaluation of gait and functional changes after a single-session multiple myofibrotenotomy in school-aged children with spastic diplegia]." Revista de Neurología 58, no. 6: 1.
David Gómez Andrés; Irene Pulido Valdeolivas; Juan Andrés Martín; Javier Lopez; Estrella Rausell Tamayo. Relationship among Gillette Gait Index parameters and GMFCS. Gait & Posture 2013, 38, S10 -S11.
AMA StyleDavid Gómez Andrés, Irene Pulido Valdeolivas, Juan Andrés Martín, Javier Lopez, Estrella Rausell Tamayo. Relationship among Gillette Gait Index parameters and GMFCS. Gait & Posture. 2013; 38 ():S10-S11.
Chicago/Turabian StyleDavid Gómez Andrés; Irene Pulido Valdeolivas; Juan Andrés Martín; Javier Lopez; Estrella Rausell Tamayo. 2013. "Relationship among Gillette Gait Index parameters and GMFCS." Gait & Posture 38, no. : S10-S11.
Irene Pulido-Valdeolivas; David Gómez-Andrés; Aitor Cinza; Gabriel Liaño; Lorena Martín-Román; Javier Lopez; Samuel Ignacio Pascual-Pascual; Estrella Rausell. Prediction of site of botulinum toxin multilevel based on gait parameters: A pilot study. Gait & Posture 2013, 38, S68 -S69.
AMA StyleIrene Pulido-Valdeolivas, David Gómez-Andrés, Aitor Cinza, Gabriel Liaño, Lorena Martín-Román, Javier Lopez, Samuel Ignacio Pascual-Pascual, Estrella Rausell. Prediction of site of botulinum toxin multilevel based on gait parameters: A pilot study. Gait & Posture. 2013; 38 ():S68-S69.
Chicago/Turabian StyleIrene Pulido-Valdeolivas; David Gómez-Andrés; Aitor Cinza; Gabriel Liaño; Lorena Martín-Román; Javier Lopez; Samuel Ignacio Pascual-Pascual; Estrella Rausell. 2013. "Prediction of site of botulinum toxin multilevel based on gait parameters: A pilot study." Gait & Posture 38, no. : S68-S69.
David Gómez-Andrés; Irene Pulido-Valdeolivas; Juan Andrés Martín; Javier Lopez; Estrella Rausell. Influence of anthropometric variables in pediatric gait parameters. Gait & Posture 2013, 38, S58 -S59.
AMA StyleDavid Gómez-Andrés, Irene Pulido-Valdeolivas, Juan Andrés Martín, Javier Lopez, Estrella Rausell. Influence of anthropometric variables in pediatric gait parameters. Gait & Posture. 2013; 38 ():S58-S59.
Chicago/Turabian StyleDavid Gómez-Andrés; Irene Pulido-Valdeolivas; Juan Andrés Martín; Javier Lopez; Estrella Rausell. 2013. "Influence of anthropometric variables in pediatric gait parameters." Gait & Posture 38, no. : S58-S59.
Instrumental gait analysis is an emerging technology used increasingly to evaluate motor disorders in children. Normal reference data is necessary in order to evaluate patients, but there are few reference resources for the Spanish paediatric population. We aim to describe the values of 16 clinically relevant gait variables in healthy Spanish schoolchildren, and identify any linear associations or left-right asymmetries. The values of 16 gait variables were determined in schoolchildren (n=27, aged 5-13 years) using instrumental gait analysis. We analysed asymmetries for each variable (Student's t-test for dependent samples) and calculated their confidence intervals (95% of the standardised difference in right and left means [SMD]). Values and associations between variables were represented using a heat map. Our project presents normal values tables for 16 variables in the gait cycle. Significant asymmetries were detected in the mean values for minimum hip flexion (SMD: 0.25 95% CI, 0.11-0.39) and peak hip abduction in swing (SMD: -1.05 95% CI: -1.71--0.27). Functional associations among gait variables are present. We present a reference dataset for Spanish school-aged children in which left-right asymmetries and functional associations may be observed for different variables.
I. Pulido-Valdeolivas; D. Gómez-Andrés; J.A. Martín-Gonzalo; J. López-López; E. Gómez-Barrena; J.J. Sánchez Hernández; E. Rausell. Parámetros de marcha en una muestra de referencia de escolares sanos españoles: descripción multivariante y asimetrías entre ciclos izquierdos y derechos. Neurología 2013, 28, 145 -152.
AMA StyleI. Pulido-Valdeolivas, D. Gómez-Andrés, J.A. Martín-Gonzalo, J. López-López, E. Gómez-Barrena, J.J. Sánchez Hernández, E. Rausell. Parámetros de marcha en una muestra de referencia de escolares sanos españoles: descripción multivariante y asimetrías entre ciclos izquierdos y derechos. Neurología. 2013; 28 (3):145-152.
Chicago/Turabian StyleI. Pulido-Valdeolivas; D. Gómez-Andrés; J.A. Martín-Gonzalo; J. López-López; E. Gómez-Barrena; J.J. Sánchez Hernández; E. Rausell. 2013. "Parámetros de marcha en una muestra de referencia de escolares sanos españoles: descripción multivariante y asimetrías entre ciclos izquierdos y derechos." Neurología 28, no. 3: 145-152.