A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG)
| Autor: | Luis González Gutiérrez-Solana, Alfons Macaya, Daniel Cuadras, Ana Felipe, L. López, Belén Pérez-Dueñas, Natalia Lourdes Serrano, Ramón Velázquez-Fragua, Antonio Martinez Monseny, Mercedes Serrano, Victor De Diego |
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| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: |
Male
0301 basic medicine congenital hereditary and neonatal diseases and abnormalities Pediatrics medicine.medical_specialty Cerebellum Adolescent lcsh:Medicine Neuroimaging 03 medical and health sciences 0302 clinical medicine Cerebellar Diseases Statistical significance medicine Quantitative assessment Humans Pharmacology (medical) Congenital disorders of glycosylation Pmm2 cdg Child Genetics (clinical) business.industry Research lcsh:R Developmental disorders General Medicine Gait ICARS 030104 developmental biology medicine.anatomical_structure nervous system Phosphotransferases (Phosphomutases) Child Preschool Female International Cooperative Ataxia Rating Scale Cerebellar atrophy business 030217 neurology & neurosurgery Phosphomannomutase Gait disorders/ataxia MRI |
| Zdroj: | Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid Consejería de Sanidad de la Comunidad de Madrid Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-6 (2017) Orphanet Journal of Rare Diseases Dipòsit Digital de Documents de la UAB Universitat Autònoma de Barcelona |
| Popis: | Background We aim to delineate the progression of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG) using the International Cooperative Ataxia Rating Scale (ICARS). We sought correlation between cerebellar volumetry and clinical situation. We prospectively evaluated PMM2-CDG patients aged from 5 to 18 years through ICARS at two different time points set apart by at least 20 months. We reviewed available MRIs and performed volumetric analysis when it was possible. Results From the eligible 24, four patients were excluded due to severe mental disability (n = 2) and supratentorial lesions (n = 2). Two different ICARS evaluations separated by more than 20 months were available for 14 patients showing an improvement in the cerebellar syndrome: ICARS1: 35.71 versus ICARS2: 30.07 (p |
| Databáze: | OpenAIRE |
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