22 results on '"Correa Vela, Marta"'
Search Results
2. Delineating the motor phenotype of SGCE-myoclonus dystonia syndrome
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Vanegas, Maria I., Marcé-Grau, Anna, Martí-Sánchez, Laura, Mellid, Sara, Baide-Mairena, Heidy, Correa-Vela, Marta, Cazurro, Anna, Rodríguez, Carla, Toledo, Laura, Fernández-Ramos, Joaquín Alejandro, Pons, Roser, Aguilera-Albesa, Sergio, Martí, Maria José, Eiris, Jesús, Iglesias, Gema, De Fabregues, Oriol, Maqueda, Elena, Garriz-Luis, Maite, Madruga, Marcos, Espinós, Carmen, Macaya, Alfons, Cabrera, José Carlos, and Pérez-Dueñas, Belén
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- 2020
- Full Text
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3. Tic disorders and premonitory urges: validation of the Spanish-language version of the Premonitory Urge for Tics Scale in children and adolescents
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Forcadell, E., García-Delgar, Blanca, Nicolau, R., Pérez-Vigil, A., Cordovilla, C., Lázaro, Luisa, Ibáñez, Laura, Mir, Pablo, Madruga, Marcos, Correa-Vela, Marta, Morer, Astrid, Forcadell, E., García-Delgar, Blanca, Nicolau, R., Pérez-Vigil, A., Cordovilla, C., Lázaro, Luisa, Ibáñez, Laura, Mir, Pablo, Madruga, Marcos, Correa-Vela, Marta, and Morer, Astrid
- Abstract
[Introduction] Most people with persistent tics report an unpleasant sensation (premonitory urge) before the tic. In recent years, interest in these sensory phenomena has increased due to their important role in behavioural therapy. However, instruments for assessing these sensations remain scarce. Among the available instruments, the Premonitory Urge for Tics Scale (PUTS) is the most widely used., [Methods] We examined the psychometric properties and factor structure of the Spanish-language version of the PUTS in a sample of 72 children and adolescents with Tourette syndrome or persistent tic disorders. We analysed data from the total sample and by age group (children up to 10 years old and children/adolescents over 10)., [Results] The PUTS presented good internal consistency and moderate correlations between items on the scale (except for item one). Divergent validity was good, test-retest reliability was adequate, and a bifactorial structure was identified (one dimension related to mental phenomena reported in obsessive-compulsive disorder, and another related to the quality and frequency of premonitory urges). These results were replicated in both age groups, with lower divergent validity and test-retest reliability in the younger group., [Conclusions] The Spanish-language version of the PUTS is a valid, reliable tool for assessing premonitory urges in both children and adolescents, especially after the age of 10., [Introducción] La mayoría de personas con tics persistentes refiere notar una sensación desagradable (impulso premonitorio) antes de sufrir un tic. En los últimos años, el interés hacia estos fenómenos sensoriales ha aumentado debido al importante papel que tienen en la terapia de conducta. Sin embargo, los instrumentos para evaluarlos aún son escasos. Entre ellos, la Escala para el Impulso Premonitorio al Tic (Premonitory Urge for Tics Scale, PUTS) es el más utilizado., [Métodos] Examinamos las propiedades psicométricas y la estructura factorial de la versión española de la PUTS en una muestra de 72 niños y adolescentes con síndrome de Tourette o trastorno de tics persistentes. Analizamos los datos para el total de la muestra y por grupos de edad (niños hasta los 10 años y mayores de 10 años)., [Resultados] La PUTS obtuvo una buena consistencia interna y correlaciones moderadas entre ítems de la escala (excepto en el ítem uno). Se encontró una buena validez divergente, una adecuada fiabilidad test-retest y una estructura bifactorial (con una dimensión de fenómenos mentales relacionados con el trastorno obsesivo-compulsivo y otra sobre las cualidades y frecuencia de los impulsos premonitorios). Estos resultados se replicaron para ambos grupos de edad, excepto la validez divergente y la fiabilidad test-retest que fueron inferiores en el grupo de menor edad., [Conclusiones] La versión española de la PUTS es una herramienta válida y fiable para evaluar los impulsos premonitorios en población infanto-juvenil, especialmente después de los 10 años.
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- 2023
4. Early recognition of SGCE ‐myoclonus–dystonia in children
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Correa‐Vela, Marta, primary, Carvalho, Joao, additional, Ferrero‐Turrion, Julia, additional, Cazurro‐Gutiérrez, Ana, additional, Vanegas, Maria, additional, Gonzalez, Victoria, additional, Alvárez, Ramiro, additional, Marcé‐Grau, Anna, additional, Moreno, Antonio, additional, Macaya‐Ruiz, Alfons, additional, and Pérez‐Dueñas, Belén, additional
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- 2022
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5. Early recognition of SGCE‐myoclonus–dystonia in children.
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Correa‐Vela, Marta, Carvalho, Joao, Ferrero‐Turrion, Julia, Cazurro‐Gutiérrez, Ana, Vanegas, Maria, Gonzalez, Victoria, Alvárez, Ramiro, Marcé‐Grau, Anna, Moreno, Antonio, Macaya‐Ruiz, Alfons, and Pérez‐Dueñas, Belén
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FOCAL dystonia , *THERAPEUTICS , *DYSTONIA - Abstract
Aim: To evaluate early dystonic features in children and adolescents with SGCE‐myoclonus–dystonia. Method: In this cross‐sectional study, 49 patients (26 females and 23 males) with SGCE‐myoclonus–dystonia (aged 15y 2mo, SD 12y) with childhood‐onset (2y 10mo, SD 1y 10mo) dystonia were examined using a standardized video recorded protocol. Dystonia was rated using the Writer's Cramp and Gait Dystonia Rating Scales. Disability and impairment for handwriting and walking were also rated. Results: Dystonia was present at rest (n=1), posture (n=12), and during specific motor tasks (n=45) such as writing (n=35), walking (n=23), and running (n=20). Most children reported disability while performing these tasks. Early dystonic patterns were identified for writer's cramp and gait dystonia, the latter named the 'circular shaking leg', 'dragging leg', and 'hobby‐horse gait' patterns. Sensory tricks were used by five and eight children to improve dystonia and myoclonus during writing and walking respectively. The rating scales accurately measured the severity of action dystonia and correlated with self‐reported disability. Interpretation: Children with SGCE‐myoclonus–dystonia show recognizable dystonic patterns and sensory tricks that may lead to an early diagnosis and timely therapeutic approach. Isolated writer's cramp is a key feature in childhood and should prompt SCGE analysis. The proposed action dystonia scales could be used to monitor disease course and response to treatment. What this paper adds: Most children with SGCE‐myoclonus–dystonia got writer's cramp and had walking and running dystonia.Writer's cramp was a key feature and should prompt SGCE genetic investigation.'Circular shaking leg', 'dragging leg', and 'hobby‐horse gait' were recognized as early gait patterns.Children used sensory tricks to improve myoclonus and dystonia, suggesting common pathophysiological mechanisms.Action dystonia rating scales are valid tools to assess severity in children. [ABSTRACT FROM AUTHOR]
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- 2023
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6. Generation of three human iPSC lines from PLAN (PLA2G6-associated neurodegeneration) patients
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Machuca, Candela, primary, Correa-Vela, Marta, additional, García-Navas, Deyanira, additional, Darling, Alejandra, additional, Villalón-García, Irene, additional, Sánchez-Alcázar, José Antonio, additional, Pérez-Dueñas, Belén, additional, Erceg, Slaven, additional, and Espinós, Carmen, additional
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- 2021
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7. Generation of three human iPSC lines from PLAN (PLA2G6-associated neurodegeneration) patients
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Instituto de Salud Carlos III, Generalitat Valenciana, Machuca, Candela, Correa-Vela, Marta, García-Navas, Deyanira, Darling, Alejandra, Villalón-García, Irene, Sánchez-Alcázar, José Antonio, Pérez-Dueñas, Belén, Erceg, Slaven, Espinós, Carmen, Instituto de Salud Carlos III, Generalitat Valenciana, Machuca, Candela, Correa-Vela, Marta, García-Navas, Deyanira, Darling, Alejandra, Villalón-García, Irene, Sánchez-Alcázar, José Antonio, Pérez-Dueñas, Belén, Erceg, Slaven, and Espinós, Carmen
- Abstract
The human iPSC cell lines, PLANFiPS1-Sv4F-1 (RCPFi004-A), PLANFiPS2-Sv4F-1 (RCPFi005-A), PLANFiPS3-Sv4F-1 RCPFi006-A), derived from dermal fibroblast from three patients suffering PLAN (PLA2G6-associated neurodegeneration; MIM 256600) caused by mutations in the PLA2G6 gene, was generated by non-integrative reprogramming technology using OCT3/4, SOX2, CMYC and KLF4 reprogramming factors. The pluripotency was assessed by immunocytochemistry and RT-PCR. Differentiation capacity was verified in vitro. This iPSC line can be further differentiated toward affected cells to better understand molecular mechanisms of disease and pathophysiology.
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- 2021
8. PRKRA ‐Related Disorders: Bilateral Striatal Degeneration in Addition to DYT16 Spectrum
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Masnada, Silvia, primary, Martinelli, Diego, additional, Correa‐Vela, Marta, additional, Agolini, Emanuele, additional, Baide‐Mairena, Heidy, additional, Marcé‐Grau, Anna, additional, Parazzini, Cecilia, additional, Veggiotti, Pierangelo, additional, Perez‐Duenas, Belen, additional, and Tonduti, Davide, additional
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- 2021
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9. Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect
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Correa-Vela, Marta, Lupo, Vincenzo, Montpeyó Garcia-Moreno, Marta, Sancho, Paula, Marcé-Grau, Anna, Hernández-Vara, Jorge, Darling, Alejandra, Jenkins, Alison, Fernández-Rodríguez, Sandra, Tello, Cristina, Ramírez-Jiménez, Laura, Pérez, Belén, Sánchez-Montáñez, Ángel, Macaya Ruiz, Alfons, Sobrido, María J., Martinez-Vicente, Marta, Pérez-Dueñas, Belén, Espinós, Carmen, Universitat Autònoma de Barcelona, Fundació La Marató de TV3, Instituto de Salud Carlos III, Generalitat Valenciana, Fundació per Amor a L'Art, and Ministerio de Educación, Cultura y Deporte (España)
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0301 basic medicine ,Adult ,medicine.medical_specialty ,Levodopa ,Proteasome Endopeptidase Complex ,Neurodegeneration with brain iron accumulation ,Neuroaxonal Dystrophies ,Neurosciences. Biological psychiatry. Neuropsychiatry ,medicine.disease_cause ,Brief Communication ,03 medical and health sciences ,Epilepsy ,Consanguinity ,Young Adult ,0302 clinical medicine ,Parkinsonian Disorders ,Internal medicine ,Mitophagy ,medicine ,Cerebellar Degeneration ,Humans ,RC346-429 ,health care economics and organizations ,Spinocerebellar Degenerations ,Paraplegia ,Mutation ,business.industry ,General Neuroscience ,Parkinsonism ,F-Box Proteins ,Syndrome ,medicine.disease ,Phenotype ,Iron Metabolism Disorders ,nervous system diseases ,030104 developmental biology ,Endocrinology ,Female ,Neurology (clinical) ,Neurology. Diseases of the nervous system ,business ,030217 neurology & neurosurgery ,medicine.drug ,RC321-571 - Abstract
FBXO7 is implicated in the ubiquitin–proteasome system and parkin-mediated mitophagy. FBXO7defects cause a levodopa-responsive parkinsonian-pyramidal syndrome(PPS). Methods: We investigated the disease molecular bases in a child with PPS and brain iron accumulation. Results: A novel homozygous c.368C>G (p.S123*) FBXO7 mutation was identified in a child with spastic paraplegia, epilepsy, cerebellar degeneration, levodopa nonresponsive parkinsonism, and brain iron deposition. Patient’s fibroblasts assays demonstrated an absence of FBXO7 RNA expression leading to impaired proteasome degradation and accumulation of poly-ubiquitinated proteins. Conclusion: This novel FBXO7 phenotype associated with impaired proteasome activity overlaps with neurodegeneration with brain iron accumulation disorders., Fundacio La Marato de TV3 [Grants 20143130 to BPD, and 20143131 to CE], by the Instituto de Salud Carlos III (ISCIII) - Subdireccion General de Evaluacion y Fomento de la Investigacion within the framework of the National R + D+I Plan cofunded with ERDF funds [Grants PI18/01319 to BPD and PI18/00147 to CE], and by the Generalitat Valenciana [Grant PROMETEO/2018/ 135 to CE]. Part of the equipment employed in this work has been funded by Generalitat Valenciana and cofinanced with ERDF funds (OP ERDF of Comunitat Valenciana 2014-2020). SFR had a contract funded by the Spanish Foundation Per Amor a l’Art (FPAA). PS had a FPU-PhD fellowship funded by the Spanish Ministry of Education, Culture and Sport Inmunoterapia
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- 2020
10. The Premonitory Urge for Tics Scale in a large sample of children and adolescents:psychometric properties in a developmental context. An EMTICS study
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Openneer, Thaïra J.C., Tárnok, Zsanett, Bognar, Emese, Benaroya-Milshtein, Noa, Garcia-Delgar, Blanca, Morer, Astrid, Steinberg, Tamar, Hoekstra, Pieter J., Dietrich, Andrea, Apter, Alan, Baglioni, Valentina, Ball, Juliane, Bodmer, Benjamin, Burger, Bianka, Buse, Judith, Cardona, Francesco, Correa Vela, Marta, Debes, Nanette M., Ferro, Maria Cristina, Fremer, Carolin, Gulisano, Mariangela, Hagen, Annelieke, Hagstrøm, Julie, Hedderly, Tammy J., Heyman, Isobel, Huyser, Chaim, Madruga-Garrido, Marcos, Marotta, Anna, Mir, Pablo, Müller, Norbert, Müller-Vahl, Kirsten, Münchau, Alexander, Nagy, Peter, Neri, Valeria, Pellico, Alessandra, Plessen, Kerstin J., Porcelli, Cesare, Redondo, Marina, Rizzo, Renata, Roessner, Veit, Ruhrman, Daphna, Schnell, Jaana M.L., Silvestri, Paola Rosaria, Skov, Liselotte, Tagwerker Gloor, Friederike, Tübing, Jennifer, Turner, Victoria L., Visscher, Frank, and the EMTICS collaborative group, Apter, A., Baglioni, V., Ball, J., Benaroya-Milshtein, N., Bodmer, B., Bognar, E., Burger, B., Buse, J., Cardona, F., Correa Vela, M., Debes, N.M., Dietrich, A., Ferro, M.C., Fremer, C., Garcia-Delgar, B., Gulisano, M., Hagen, A., Hagstrøm, J., Hedderly, T.J., Heyman, I., Hoekstra, P.J., Huyser, C., Madruga-Garrido, M., Marotta, A., Mir, P., Morer, A., Müller, N., Müller-Vahl, K., Münchau, A., Nagy, P., Neri, V., Openneer, TJC, Pellico, A., Plessen, K.J., Porcelli, C., Redondo, M., Rizzo, R., Roessner, V., Ruhrman, D., Schnell, JML, Silvestri, P.R., Skov, L., Steinberg, T., Tagwerker Gloor, F., Tárnok, Z., Tübing, J., Turner, V.L., Visscher, F., ANS - Cellular & Molecular Mechanisms, Child Psychiatry, ANS - Amsterdam Neuroscience, and Clinical Cognitive Neuropsychiatry Research Program (CCNP)
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Sensory phenomena ,Male ,Tourette syndrome ,THERAPY ,Severity of Illness Index ,Obsessive-compulsive symptoms ,0302 clinical medicine ,Quality of life ,QUALITY-OF-LIFE ,Developmental and Educational Psychology ,Child and adolescent psychiatry ,030212 general & internal medicine ,ADULT PATIENTS ,Child ,Premonitory Urge for Tics Scale (PUTS) ,Obsessive–compulsive symptoms ,Premonitory urges ,Psychometric properties ,General Medicine ,Original Contribution ,Psychiatry and Mental health ,Child, Preschool ,Female ,medicine.symptom ,Psychology ,Clinical psychology ,medicine.medical_specialty ,Tics ,Adolescent ,Psychometrics ,DISORDERS ,QUESTIONNAIRE ,Context (language use) ,03 medical and health sciences ,OBSESSIVE-COMPULSIVE SCALE ,medicine ,SENSORY PHENOMENA ,Humans ,TOURETTE-SYNDROME ,HABIT REVERSAL ,Reproducibility of Results ,medicine.disease ,SEVERITY ,Sample size determination ,Tic Disorders ,Pediatrics, Perinatology and Child Health ,Chronic Tic Disorder ,030217 neurology & neurosurgery - Abstract
Premonitory urges are uncomfortable physical sensations preceding tics that occur in most individuals with a chronic tic disorder. The Premonitory Urge for Tics Scale (PUTS) is the most frequently used self-report measure to assess the severity of premonitory urges. We aimed to evaluate the psychometric properties of the PUTS in the largest sample size to date (n = 656), in children aged 3–16 years, from the baseline measurement of the longitudinal European Multicenter Tics in Children Study (EMTICS). Our psychometric evaluation was done in three age-groups: children aged 3–7 years (n = 103), children between 8 and 10 years (n = 253), and children aged 11–16 years (n = 300). The PUTS exhibited good internal reliability in children and adolescents, also under the age of 10, which is younger than previously thought. We observed significant but small correlations between the severity of urges and severity of tics and obsessive–compulsive symptoms, and between severity of urges and ratings of attention-deficit/hyperactivity disorder and internalizing and externalizing behaviors, however, only in children of 8–10 years. Consistent with previous results, the 10th item of the PUTS correlated less with the rest of the scale compared to the other items and, therefore, should not be used as part of the questionnaire. We found a two-factor structure of the PUTS in children of 11 years and older, distinguishing between sensory phenomena related to tics, and mental phenomena as often found in obsessive–compulsive disorder. The age-related differences observed in this study may indicate the need for the development of an age-specific questionnaire to assess premonitory urges. Electronic supplementary material The online version of this article (10.1007/s00787-019-01450-1) contains supplementary material, which is available to authorized users.
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- 2020
11. Anti-dopamine D2 receptor antibodies in chronic tic disorders
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Addabbo, Francesco, Baglioni, Valentina, Schrag, Anette, Schwarz, Markus J., Dietrich, Andrea, Hoekstra, Pieter J., Martino, Davide, Buttiglione, Maura, Anastasiou, Zacharias, Apter, Alan, Ball, Juliane, Bartolini, Erika, Benaroya-Milshtein, Noa, Bodmer, Benjamin, Bognar, Emese, Burger, Bianka, Buse, Judith, Cardona, Francesco, Correa Vela, Marta, Creti, Roberta, Debes, Nanette M., Efstratiou, Androulla, Ferro, Maria Cristina, Fremer, Carolin, Garcia-Delgar, Blanca, Gariup, Maria, Georgitsi, Marianthi, Gulisano, Mariangela, Hagen, Annelieke, Hagstrøm, Julie, Hedderly, Tammy J., Heyman, Isobel, Huyser, Chaim, Imperi, Monica, Karagiannidis, Iordanis, Laviola, Giovanni, Macri, Simone, Madruga-Garrido, Marcos, Margarit, Immaculada, Marotta, Anna, Meier, Ute C., Mir, Pablo, Moll, Natalie, Morer, Astrid, Müller-Vahl, Kirsten, Münchau, Alexander, Nagy, Peter, Neri, Valeria, Openneer, Thaïra J.C., Plessen, Kerstin, Addabbo, Francesco, Baglioni, Valentina, Schrag, Anette, Schwarz, Markus J., Dietrich, Andrea, Hoekstra, Pieter J., Martino, Davide, Buttiglione, Maura, Anastasiou, Zacharias, Apter, Alan, Ball, Juliane, Bartolini, Erika, Benaroya-Milshtein, Noa, Bodmer, Benjamin, Bognar, Emese, Burger, Bianka, Buse, Judith, Cardona, Francesco, Correa Vela, Marta, Creti, Roberta, Debes, Nanette M., Efstratiou, Androulla, Ferro, Maria Cristina, Fremer, Carolin, Garcia-Delgar, Blanca, Gariup, Maria, Georgitsi, Marianthi, Gulisano, Mariangela, Hagen, Annelieke, Hagstrøm, Julie, Hedderly, Tammy J., Heyman, Isobel, Huyser, Chaim, Imperi, Monica, Karagiannidis, Iordanis, Laviola, Giovanni, Macri, Simone, Madruga-Garrido, Marcos, Margarit, Immaculada, Marotta, Anna, Meier, Ute C., Mir, Pablo, Moll, Natalie, Morer, Astrid, Müller-Vahl, Kirsten, Münchau, Alexander, Nagy, Peter, Neri, Valeria, Openneer, Thaïra J.C., and Plessen, Kerstin
- Abstract
Aim: To investigate the association between circulating anti-dopamine D2 receptor (D2R) autoantibodies and the exacerbation of tics in children with chronic tic disorders (CTDs). Method: One hundred and thirty-seven children with CTDs (108 males, 29 females; mean age [SD] 10y 0mo [2y 7mo], range 4–16y) were recruited over 18 months. Patients were assessed at baseline, at tic exacerbation, and at 2 months after exacerbation. Serum anti-D2R antibodies were evaluated using a cell-based assay and blinded immunofluorescence microscopy scoring was performed by two raters. The association between visit type and presence of anti-D2R antibodies was measured with McNemar’s test and repeated-measure logistic regression models, adjusting for potential demographic and clinical confounders. Results: At exacerbation, 11 (8%) participants became anti-D2R-positive (‘early peri-exacerbation seroconverters’), and nine (6.6%) became anti-D2R-positive at post-exacerbation (‘late peri-exacerbation seroconverters’). The anti-D2R antibodies were significantly associated with exacerbations when compared to baseline (McNemar’s odds ratio=11, p=0.003) and conditional logistic regression confirmed this association (Z=3.49, p<0.001) after adjustment for demographic and clinical data and use of psychotropic drugs. Interpretation: There is a potential association between immune mechanisms and the severity course of tics in adolescents with CTDs.
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- 2020
12. Delineating the motor phenotype of SGCE-myoclonus dystonia syndrome
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Asociación ALUDME, Ministerio de Educación y Formación Profesional (España), Vanegas, María I., Marcé-Grau, Anna, Martí-Sánchez, Laura, Mellid, Sara, Baide-Mairen, Heidy, Correa-Vela, Marta, Cazurro, Anna, Rodríguez, Carla, Toledo, Laura, Fernández-Ramos, Joaquín Alejandro, Pons, Roser, Aguilera-Albesa, Sergio, Martí, María-José, Eiris, Jesús, Iglesias Escalera, G., Fábregues-Boixar, Oriol de, Maqueda, Elena, Garriz-Luis, Maite, Madruga, Marcos, Espinós, Carmen, Macaya, Alfons, Cabrera, José Carlos, Pérez-Dueñas, Belén, Asociación ALUDME, Ministerio de Educación y Formación Profesional (España), Vanegas, María I., Marcé-Grau, Anna, Martí-Sánchez, Laura, Mellid, Sara, Baide-Mairen, Heidy, Correa-Vela, Marta, Cazurro, Anna, Rodríguez, Carla, Toledo, Laura, Fernández-Ramos, Joaquín Alejandro, Pons, Roser, Aguilera-Albesa, Sergio, Martí, María-José, Eiris, Jesús, Iglesias Escalera, G., Fábregues-Boixar, Oriol de, Maqueda, Elena, Garriz-Luis, Maite, Madruga, Marcos, Espinós, Carmen, Macaya, Alfons, Cabrera, José Carlos, and Pérez-Dueñas, Belén
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Objective To perform phenotype and genotype characterization in myoclonus-dystonia patients and to validate clinical rating tools. Method Two movement disorders experts rated patients with the Burke-Fahn-Marsden and Unified-Myoclonus rating scales using a video-recording protocol. Clinimetric analysis was performed. SGCE mutations were screened by Sanger sequencing and multiplex ligation-dependent probe amplification. Results 48 patients were included and 43/48 rated. Mean age at assessment was 12.9±10.5 years (range 3–51) and 88% were ≤18 years of age. Myoclonus was a universal sign with a rostro-caudal severity-gradient. Myoclonus increased in severity and spread to lower limbs during action tests. Stimulus-evoked myoclonus was observed in 86.8% cases. Dystonia was common but mild. It had a focal distribution and was action-induced, causing writer's cramp (69%) and gait dystonia (34%). The severity of both myoclonus and dystonia had a strong impact on hand writing and walking difficulties. The Unified Myoclonus Rating scale showed the best clinimetric properties for the questionnaire, action myoclonus and functional subscales, and exceeded the Burke-Fahn-Marsden scale in its utility in assessing functional impairment in MDS patients. Twenty-one different SGCE mutations were identified in 45/48 patients, eleven being novel (most prevalent p. Val187*, founder mutation in Canary Islands). Conclusion This study quantifies the severity of the motor phenotype in SGCE-myoclonus dystonia syndrome, with a special focus on children, and identifies disabilities in gross and fine motor tasks that are essential for childhood development. Our results contribute to the knowledge of SGCE-related MDS in the early stage of evolution, where disease-modifying therapies could be initiated in order to prevent long-term social and physical burdens.
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- 2020
13. Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect
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Fundació La Marató de TV3, Instituto de Salud Carlos III, Generalitat Valenciana, Fundació per Amor a L'Art, Ministerio de Educación, Cultura y Deporte (España), Correa-Vela, Marta, Lupo, Vincenzo, Montpeyó, Marta, Sancho, Paula, Marcé-Grau, Anna, Hernández-Vara, Jorge, Darling, Alejandra, Jenkins, Alison, Fernández-Rodríguez, Sandra, Tello, Cristina, Ramírez-Jiménez, Laura, Pérez, Belén, Sánchez-Montáñez, Angel, Macaya, Alfons, Sobrido, Marıa J., Martinez-Vicente, Marta, Pérez-Dueñas, Belén, Espinós, Carmen, Fundació La Marató de TV3, Instituto de Salud Carlos III, Generalitat Valenciana, Fundació per Amor a L'Art, Ministerio de Educación, Cultura y Deporte (España), Correa-Vela, Marta, Lupo, Vincenzo, Montpeyó, Marta, Sancho, Paula, Marcé-Grau, Anna, Hernández-Vara, Jorge, Darling, Alejandra, Jenkins, Alison, Fernández-Rodríguez, Sandra, Tello, Cristina, Ramírez-Jiménez, Laura, Pérez, Belén, Sánchez-Montáñez, Angel, Macaya, Alfons, Sobrido, Marıa J., Martinez-Vicente, Marta, Pérez-Dueñas, Belén, and Espinós, Carmen
- Abstract
FBXO7 is implicated in the ubiquitin–proteasome system and parkin-mediated mitophagy. FBXO7defects cause a levodopa-responsive parkinsonian-pyramidal syndrome(PPS). Methods: We investigated the disease molecular bases in a child with PPS and brain iron accumulation. Results: A novel homozygous c.368C>G (p.S123*) FBXO7 mutation was identified in a child with spastic paraplegia, epilepsy, cerebellar degeneration, levodopa nonresponsive parkinsonism, and brain iron deposition. Patient’s fibroblasts assays demonstrated an absence of FBXO7 RNA expression leading to impaired proteasome degradation and accumulation of poly-ubiquitinated proteins. Conclusion: This novel FBXO7 phenotype associated with impaired proteasome activity overlaps with neurodegeneration with brain iron accumulation disorders.
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- 2020
14. Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase–Associated Neurodegeneration
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Klopstock, Thomas, primary, Videnovic, Aleksandar, additional, Bischoff, Almut Turid, additional, Bonnet, Cecilia, additional, Cif, Laura, additional, Comella, Cynthia, additional, Correa‐Vela, Marta, additional, Escolar, Maria L., additional, Fraser, Jamie L., additional, Gonzalez, Victoria, additional, Hermanowicz, Neal, additional, Jech, Robert, additional, Jinnah, Hyder A., additional, Kmiec, Tomasz, additional, Lang, Anthony, additional, Martí, Maria J., additional, Mercimek‐Andrews, Saadet, additional, Monduy, Migvis, additional, Nimmo, Graeme A.M., additional, Perez‐Dueñas, Belen, additional, Pfeiffer, Helle Cecilie Viekilde, additional, Planellas, Lluis, additional, Roze, Emmanuel, additional, Thakur, Nivedita, additional, Tochen, Laura, additional, Vanegas‐Arroyave, Nora, additional, Zorzi, Giovanna, additional, Burns, Colleen, additional, and Greblikas, Feriandas, additional
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- 2020
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15. Antibodies to neuronal surface proteins in Tourette Syndrome: Lack of evidence in a European paediatric cohort
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Anastasiou, Zacharias, Apter, Alan, Bartolini, Erika, Benaroya-Milshtein, Noa, Bodmer, Benjamin, Bognar, Emese, Burger, Bianka, Correa Vela, Marta, Creti, Roberta, Dietrich, Andrea, Debes, Nanette M., Efstratiou, Androulla, Cristina Ferro, Maria, Fremer, Carolin, Garcia-Delgar, Blanca, Gariup, Maria, Georgitsi, Marianthi, Gulisano, Mariangela, Hagen, Annelieke, Hagstrøm, Julie, Hedderly, Tammy J., Heyman, Isobel, Hoekstra, Pieter J., Huyser, Chaim, Imperi, Monica, Karagiannidis, Iordanis, Laviola, Giovanni, Macri, Simone, Madruga-Garrido, Marcos, Margarit, Immaculada, Marotta, Anna, Martino, Davide, Meier, Ute C., Mir, Pablo, Moll, Natalie, Morer, Astrid, Müller-Vahl, Kirsten, Münchau, Alexander, Nagy, Peter, Neri, Valeria, Openneer, Thaïra J.C., Orefici, Graziella, Paschou, Peristera, Pellico, Alessandra, Porcelli, Cesare, Redondo, Marina, Rizzo, Renata, Roazzi, Paolo, Roessner, Veit, Ruhrman, Daphna, Schnell, Jaana M.L., Schrag, Anette, Schütze, Gregor A., Schwarz, Markus J., Rosaria Silvestri, Paola, Skov, Liselotte, Steinberg, Tamar, Stöber, Sara, Tallon, Marco, Tarnok, Zsanett, Baglioni, V., Coutinho, E., Menassa, D.A., Giannoccaro, M.P., Jacobson, L., Buttiglione, M., Petruzzelli, O., Cardona, F., and Vincent, A.
- Published
- 2019
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16. Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene
- Author
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Marti‐Sanchez, Laura, primary, Baide‐Mairena, Heidy, additional, Marcé‐Grau, Anna, additional, Pons, Roser, additional, Skouma, Anastasia, additional, López‐Laso, Eduardo, additional, Sigatullina, Maria, additional, Rizzo, Cristiano, additional, Semeraro, Michela, additional, Martinelli, Diego, additional, Carrozzo, Rosalba, additional, Dionisi‐Vici, Carlo, additional, González‐Gutiérrez‐Solana, Luis, additional, Correa‐Vela, Marta, additional, Ortigoza‐Escobar, Juan Dario, additional, Sánchez‐Montañez, Ángel, additional, Vazquez, Élida, additional, Delgado, Ignacio, additional, Aguilera‐Albesa, Sergio, additional, Yoldi, María Eugenia, additional, Ribes, Antonia, additional, Tort, Frederic, additional, Pollini, Luca, additional, Galosi, Serena, additional, Leuzzi, Vincenzo, additional, Tolve, Manuela, additional, Pérez‐Gay, Laura, additional, Aldamiz‐Echevarría, Luis, additional, Del Toro, Mireia, additional, Arranz, Antonio, additional, Roelens, Filip, additional, Urreizti, Roser, additional, Artuch, Rafael, additional, Macaya, Alfons, additional, and Pérez‐Dueñas, Belén, additional
- Published
- 2020
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17. Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase–Associated Neurodegeneration.
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Klopstock, Thomas, Videnovic, Aleksandar, Bischoff, Almut Turid, Bonnet, Cecilia, Cif, Laura, Comella, Cynthia, Correa‐Vela, Marta, Escolar, Maria L., Fraser, Jamie L., Gonzalez, Victoria, Hermanowicz, Neal, Jech, Robert, Jinnah, Hyder A., Kmiec, Tomasz, Lang, Anthony, Martí, Maria J., Mercimek‐Andrews, Saadet, Monduy, Migvis, Nimmo, Graeme A.M., and Perez‐Dueñas, Belen
- Abstract
Background: Pantothenate kinase–associated neurodegeneration (PKAN) currently has no approved treatments. Objectives: The Fosmetpantotenate Replacement Therapy pivotal trial examined whether treatment with fosmetpantotenate improves PKAN symptoms and stabilizes disease progression. Methods: This randomized, double‐blind, placebo‐controlled, multicenter study evaluated fosmetpantotenate, 300 mg oral dose three times daily, versus placebo over a 24‐week double‐blind period. Patients with pathogenic variants of PANK2, aged 6 to 65 years, with a score ≥6 on the PKAN‐Activities of Daily Living (PKAN‐ADL) scale were enrolled. Patients were randomized to active (fosmetpantotenate) or placebo treatment, stratified by weight and age. The primary efficacy endpoint was change from baseline at week 24 in PKAN‐ADL. Results: Between July 23, 2017, and December 18, 2018, 84 patients were randomized (fosmetpantotenate: n = 41; placebo: n = 43); all 84 patients were included in the analyses. Six patients in the placebo group discontinued treatment; two had worsening dystonia, two had poor compliance, and two died of PKAN‐related complications (aspiration during feeding and disease progression with respiratory failure, respectively). Fosmetpantotenate and placebo group PKAN‐ADL mean (standard deviation) scores were 28.2 (11.4) and 27.4 (11.5) at baseline, respectively, and were 26.9 (12.5) and 24.5 (11.8) at week 24, respectively. The difference in least square mean (95% confidence interval) at week 24 between fosmetpantotenate and placebo was −0.09 (−1.69 to 1.51; P = 0.9115). The overall incidence of treatment‐emergent serious adverse events was similar in the fosmetpantotenate (8/41; 19.5%) and placebo (6/43; 14.0%) groups. Conclusions: Treatment with fosmetpantotenate was safe but did not improve function assessed by the PKAN‐ADL in patients with PKAN. © 2020 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. [ABSTRACT FROM AUTHOR]
- Published
- 2021
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18. Antibodies to neuronal surface proteins in Tourette Syndrome: Lack of evidence in a European paediatric cohort
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Baglioni, V., primary, Coutinho, E., additional, Menassa, D.A., additional, Giannoccaro, M.P., additional, Jacobson, L., additional, Buttiglione, M., additional, Petruzzelli, O., additional, Cardona, F., additional, Vincent, A., additional, Anastasiou, Zacharias, additional, Apter, Alan, additional, Bartolini, Erika, additional, Benaroya-Milshtein, Noa, additional, Bodmer, Benjamin, additional, Bognar, Emese, additional, Burger, Bianka, additional, Correa Vela, Marta, additional, Creti, Roberta, additional, Dietrich, Andrea, additional, Debes, Nanette M., additional, Efstratiou, Androulla, additional, Cristina Ferro, Maria, additional, Fremer, Carolin, additional, Garcia-Delgar, Blanca, additional, Gariup, Maria, additional, Georgitsi, Marianthi, additional, Gulisano, Mariangela, additional, Hagen, Annelieke, additional, Hagstrøm, Julie, additional, Hedderly, Tammy J., additional, Heyman, Isobel, additional, Hoekstra, Pieter J., additional, Huyser, Chaim, additional, Imperi, Monica, additional, Karagiannidis, Iordanis, additional, Laviola, Giovanni, additional, Macri, Simone, additional, Madruga-Garrido, Marcos, additional, Margarit, Immaculada, additional, Marotta, Anna, additional, Martino, Davide, additional, Meier, Ute C., additional, Mir, Pablo, additional, Moll, Natalie, additional, Morer, Astrid, additional, Müller-Vahl, Kirsten, additional, Münchau, Alexander, additional, Nagy, Peter, additional, Neri, Valeria, additional, Openneer, Thaïra J.C., additional, Orefici, Graziella, additional, Paschou, Peristera, additional, Pellico, Alessandra, additional, Porcelli, Cesare, additional, Redondo, Marina, additional, Rizzo, Renata, additional, Roazzi, Paolo, additional, Roessner, Veit, additional, Ruhrman, Daphna, additional, Schnell, Jaana M.L., additional, Schrag, Anette, additional, Schütze, Gregor A., additional, Schwarz, Markus J., additional, Rosaria Silvestri, Paola, additional, Skov, Liselotte, additional, Steinberg, Tamar, additional, Stöber, Sara, additional, Tallon, Marco, additional, and Tarnok, Zsanett, additional
- Published
- 2019
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19. Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.
- Author
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Marti‐Sanchez, Laura, Baide‐Mairena, Heidy, Marcé‐Grau, Anna, Pons, Roser, Skouma, Anastasia, López‐Laso, Eduardo, Sigatullina, Maria, Rizzo, Cristiano, Semeraro, Michela, Martinelli, Diego, Carrozzo, Rosalba, Dionisi‐Vici, Carlo, González‐Gutiérrez‐Solana, Luis, Correa‐Vela, Marta, Ortigoza‐Escobar, Juan Dario, Sánchez‐Montañez, Ángel, Vazquez, Élida, Delgado, Ignacio, Aguilera‐Albesa, Sergio, and Yoldi, María Eugenia
- Abstract
The neurological phenotype of 3‐hydroxyisobutyryl‐CoA hydrolase (HIBCH) and short‐chain enoyl‐CoA hydratase (SCEH) defects is expanding and natural history studies are necessary to improve clinical management. From 42 patients with Leigh syndrome studied by massive parallel sequencing, we identified five patients with SCEH and HIBCH deficiency. Fourteen additional patients were recruited through collaborations with other centres. In total, we analysed the neurological features and mutation spectrum in 19 new SCEH/HIBCH patients. For natural history studies and phenotype to genotype associations we also included 70 previously reported patients. The 19 newly identified cases presented with Leigh syndrome (SCEH, n = 11; HIBCH, n = 6) and paroxysmal dystonia (SCEH, n = 2). Basal ganglia lesions (18 patients) were associated with small cysts in the putamen/pallidum in half of the cases, a characteristic hallmark for diagnosis. Eighteen pathogenic variants were identified, 11 were novel. Among all 89 cases, we observed a longer survival in HIBCH compared to SCEH patients, and in HIBCH patients carrying homozygous mutations on the protein surface compared to those with variants inside/near the catalytic region. The SCEH p.(Ala173Val) change was associated with a milder form of paroxysmal dystonia triggered by increased energy demands. In a child harbouring SCEH p.(Ala173Val) and the novel p.(Leu123Phe) change, an 83.6% reduction of the protein was observed in fibroblasts. The SCEH and HIBCH defects in the catabolic valine pathway were a frequent cause of Leigh syndrome in our cohort. We identified phenotype and genotype associations that may help predict outcome and improve clinical management. [ABSTRACT FROM AUTHOR]
- Published
- 2021
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20. Yale Global Tic Severity Scale (YGTSS): Psychometric Quality of the Gold Standard for Tic Assessment Based on the Large-Scale EMTICS Study.
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Haas, Martina, Jakubovski, Ewgeni, Fremer, Carolin, Dietrich, Andrea, Hoekstra, Pieter J., Jäger, Burkard, Müller-Vahl, Kirsten R., Apter, Alan, Baglioni, Valentina, Ball, Juliane, Benaroya-Milshtein, Noa, Bodmer, Benjamin, Bognar, Emese, Burger, Bianka, Buse, Judith, Cardona, Francesco, Correa Vela, Marta, Debes, Nanette M., Cristina Ferro, Maria, and Garcia-Delgar, Blanca
- Subjects
TIC disorders ,TOURETTE syndrome ,STANDARD deviations ,PSYCHOMETRICS ,CONFIRMATORY factor analysis ,QUALITY standards - Abstract
The Yale Global Tic Severity Scale (YGTSS) is a clinician-rated instrument considered as the gold standard for assessing tics in patients with Tourette's Syndrome and other tic disorders. Previous psychometric investigations of the YGTSS exhibit different limitations such as small sample sizes and insufficient methods. To overcome these shortcomings, we used a subsample of the large-scale "European Multicentre Tics in Children Study" (EMTICS) including 706 children and adolescents with a chronic tic disorder and investigated convergent, discriminant and factorial validity, as well as internal consistency of the YGTSS. Our results confirm acceptable convergent and good to very good discriminant validity, respectively, indicated by a sufficiently high correlation of the YGTSS total tic score with the Clinical Global Impression Scale for tics (r
s = 0.65) and only low to medium correlations with clinical severity ratings of attention deficit/hyperactivity symptoms (rs = 0.24), obsessive–compulsive symptoms (rs = 27) as well as internalizing symptoms (rs = 0.27). Internal consistency was found to be acceptable (Ω = 0.58 for YGTSS total tic score). A confirmatory factor analysis supports the concept of the two factors "motor tics" and "phonic tics," but still demonstrated just a marginal model fit (root mean square error of approximation = 0.09 [0.08; 0.10], comparative fit index = 0.90, and Tucker Lewis index = 0.87). A subsequent analysis of local misspecifications revealed correlated measurement errors, suggesting opportunities for improvement regarding the item wording. In conclusion, our results indicate acceptable psychometric quality of the YGTSS. However, taking the wide use and importance of the YGTSS into account, our results suggest the need for further investigations and improvements of the YGTSS. In addition, our results show limitations of the global severity score as a sum score indicating that the separate use of the total tic score and the impairment rating is more beneficial. [ABSTRACT FROM AUTHOR]- Published
- 2021
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21. The Premonitory Urge for Tics Scale in a large sample of children and adolescents: psychometric properties in a developmental context. An EMTICS study.
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Openneer, Thaïra J. C., Tárnok, Zsanett, Bognar, Emese, Benaroya-Milshtein, Noa, Garcia-Delgar, Blanca, Morer, Astrid, Steinberg, Tamar, Hoekstra, Pieter J., Dietrich, Andrea, and the EMTICS collaborative group, Apter, Alan, Baglioni, Valentina, Ball, Juliane, Bodmer, Benjamin, Burger, Bianka, Buse, Judith, Cardona, Francesco, Correa Vela, Marta, Debes, Nanette M., and Ferro, Maria Cristina
- Subjects
ADOLESCENCE ,CHILD development ,PSYCHOMETRICS ,TIC disorders - Abstract
Premonitory urges are uncomfortable physical sensations preceding tics that occur in most individuals with a chronic tic disorder. The Premonitory Urge for Tics Scale (PUTS) is the most frequently used self-report measure to assess the severity of premonitory urges. We aimed to evaluate the psychometric properties of the PUTS in the largest sample size to date (n = 656), in children aged 3–16 years, from the baseline measurement of the longitudinal European Multicenter Tics in Children Study (EMTICS). Our psychometric evaluation was done in three age-groups: children aged 3–7 years (n = 103), children between 8 and 10 years (n = 253), and children aged 11–16 years (n = 300). The PUTS exhibited good internal reliability in children and adolescents, also under the age of 10, which is younger than previously thought. We observed significant but small correlations between the severity of urges and severity of tics and obsessive–compulsive symptoms, and between severity of urges and ratings of attention-deficit/hyperactivity disorder and internalizing and externalizing behaviors, however, only in children of 8–10 years. Consistent with previous results, the 10th item of the PUTS correlated less with the rest of the scale compared to the other items and, therefore, should not be used as part of the questionnaire. We found a two-factor structure of the PUTS in children of 11 years and older, distinguishing between sensory phenomena related to tics, and mental phenomena as often found in obsessive–compulsive disorder. The age-related differences observed in this study may indicate the need for the development of an age-specific questionnaire to assess premonitory urges. [ABSTRACT FROM AUTHOR]
- Published
- 2020
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22. Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect.
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Correa-Vela M, Lupo V, Montpeyó M, Sancho P, Marcé-Grau A, Hernández-Vara J, Darling A, Jenkins A, Fernández-Rodríguez S, Tello C, Ramírez-Jiménez L, Pérez B, Sánchez-Montáñez Á, Macaya A, Sobrido MJ, Martinez-Vicente M, Pérez-Dueñas B, and Espinós C
- Subjects
- Adult, Consanguinity, Epilepsy enzymology, Epilepsy genetics, Epilepsy pathology, Epilepsy physiopathology, Female, Humans, Paraplegia enzymology, Paraplegia genetics, Paraplegia pathology, Paraplegia physiopathology, Spinocerebellar Degenerations enzymology, Spinocerebellar Degenerations genetics, Spinocerebellar Degenerations pathology, Spinocerebellar Degenerations physiopathology, Syndrome, Young Adult, F-Box Proteins genetics, Iron Metabolism Disorders enzymology, Iron Metabolism Disorders genetics, Iron Metabolism Disorders pathology, Iron Metabolism Disorders physiopathology, Neuroaxonal Dystrophies enzymology, Neuroaxonal Dystrophies genetics, Neuroaxonal Dystrophies pathology, Neuroaxonal Dystrophies physiopathology, Parkinsonian Disorders enzymology, Parkinsonian Disorders genetics, Parkinsonian Disorders pathology, Parkinsonian Disorders physiopathology, Proteasome Endopeptidase Complex metabolism
- Abstract
FBXO7 is implicated in the ubiquitin-proteasome system and parkin-mediated mitophagy. FBXO7defects cause a levodopa-responsive parkinsonian-pyramidal syndrome(PPS)., Methods: We investigated the disease molecular bases in a child with PPS and brain iron accumulation., Results: A novel homozygous c.368C>G (p.S123*) FBXO7 mutation was identified in a child with spastic paraplegia, epilepsy, cerebellar degeneration, levodopa nonresponsive parkinsonism, and brain iron deposition. Patient's fibroblasts assays demonstrated an absence of FBXO7 RNA expression leading to impaired proteasome degradation and accumulation of poly-ubiquitinated proteins., Conclusion: This novel FBXO7 phenotype associated with impaired proteasome activity overlaps with neurodegeneration with brain iron accumulation disorders., (© 2020 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.)
- Published
- 2020
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