The genetic etiology in cerebral palsy mimics: The results from a Greek tertiary care center
| العنوان: | The genetic etiology in cerebral palsy mimics: The results from a Greek tertiary care center |
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| المؤلفون: | Roser Pons, Christalena Sofocleus, Belén Pérez-Dueñas, Danae Veltra, Katerina Anagnostopoulou, Vasiliki Zouvelou, Helen Fryssira, Rafael Artuch, Elissavet Kollia, Anna Marcé-Grau, Manolis Bilanakis, Xaralabos Kokkinis, Loukia Apostolakopoulou, Filippo M. Santorelli, Judith Amstrong, Kiriaki Kekou, Rosa J. Torres, Eleftheria Kokkinou, Delia Yubero, Antonis Voutetakis, Ioannis Nikas, Zoi Dalivigka, Alfons Macaya |
| المصدر: | EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu Fundació Sant Joan de Déu European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu instname |
| سنة النشر: | 2018 |
| مصطلحات موضوعية: | Male, Microcephaly, Pediatrics, medicine.medical_specialty, Ataxia, Hereditary spastic paraplegia, Genetic counseling, Motor Disorders, Cerebral palsy, Diagnosis, Differential, Tertiary Care Centers, 03 medical and health sciences, 0302 clinical medicine, Chorea, 030225 pediatrics, medicine, Spastic, Humans, Spasticity, Child, Retrospective Studies, Greece, business.industry, Cerebral Palsy, Precision medicine, General Medicine, medicine.disease, Dystonia, Pediatrics, Perinatology and Child Health, Etiology, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery |
| الوصف: | Objective: Non-progressive genetic disorders may present with motor dysfunction resembling cerebral palsy (CP). Such patients are often characterized as CP mimics. The purpose of this work was to delineate the clinical manifestations and molecular findings of CP mimic patients, with the ultimate goal to offer specific disease-modifying therapy and genetic counseling. Methods: Retrospective study of 47 patients diagnosed with CP and no acquired etiology. Chart review of clinical, neuroradiological, biochemical and molecular data was performed. Results: 31,91% of patients manifested with features resembling dyskinetic CP, 19,14% spastic CP, 10,63% ataxic CP and 38,30% mixed CP. In 23 patients molecular diagnosis was reached and included 5 hereditary spastic paraplegia genes (SPG) in spastic CP mimics; HPRT1, TH, QDPR, DDC in dystonic CP mimics; ADCY5 and NIKX2-1 in choreic CP mimics; CANA1A in ataxic CP mimics; and SPG, PDHA1, NIKX2-1, AT, SLC2A1 and SPR in mixed CP mimics. In 14 patients, the etiological diagnosis led to specific treatment. Conclusions: CP mimics show a number of features that differ from classic CP and can be used as diagnostic clues, including presence of mixed motor features, minor dysmorphic features, oculogyric movements, multiple features of autonomic dysfunction, and acquired microcephaly. A more stringent use of the concept of CP focused on acquired lesions during the perinatal and infancy periods, and excluding disorders that could be of genetic origin, could contribute to a purer use of the term. Identification of a specific genetic cause for CP mimics may in certain cases lead to etiologic treatment. (C) 2019 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved. |
| تدمد: | 1532-2130 1090-3798 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::061e66e282afea246d40f68d5994afbb https://pubmed.ncbi.nlm.nih.gov/30799092 |
| Rights: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....061e66e282afea246d40f68d5994afbb |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15322130 10903798 |
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