التفاصيل البيبلوغرافية
| العنوان: |
A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG). |
| المؤلفون: |
Serrano, Natalia Lourdes, De Diego, Victor, Cuadras, Daniel, Monseny, Antonio F. Martinez, Velázquez-Fragua, Ramón, López, Laura, Felipe, Ana, Gutiérrez-Solana, Luis G., Macaya, Alfons, Pérez-Dueñas, Belén, Serrano, Mercedes, Martinez Monseny, Antonio F, CDG Spanish-Consortium |
| المصدر: |
Orphanet Journal of Rare Diseases; 9/15/2017, Vol. 12, p1-6, 6p |
| مصطلحات موضوعية: |
CEREBELLAR ataxia, BIOLOGICAL evolution, PHOSPHOMANNOMUTASE, SUPRATENTORIAL brain tumors in children, INTELLECTUAL disabilities, CEREBELLUM diseases, NEURORADIOLOGY, TRANSFERASES, DIAGNOSIS |
| مستخلص: |
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 < 0.001). When we considered time, we saw an improvement of 2.64 points in the ICARS per year with an SD of 1.97 points (p < 0.001). The ICARS subscales results improved with time, reaching statistical significance in "Posture and gait" (p < 0.001), "Kinetic functions" (p = 0.04) and "Speech abnormalities" (p = 0.045). We found a negative correlation between the ICARS results and total cerebellar volume (r = -0.9, p = 0.037) in a group of five patients with available volumetric study, meaning that the higher the ICARS score, the more severe was the cerebellar atrophy.Conclusions: Our study shows a stabilization or mild improvement in the cerebellar functions of paediatric PMM2-CDG patients despite cerebellar volume loss. ICARS is a valid scale to quantify the evolution of cerebellar syndrome in PMM2-CDG patients. The availability of ICARS and other reliable and sensitive follow-up tools may prove essential for the evaluation of potential therapies. [ABSTRACT FROM AUTHOR] |
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| قاعدة البيانات: |
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