TY - JOUR
T1 - Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)
AU - Collaborators Of The Cdg Spanish-Consortium
AU - de Diego, Víctor
AU - Martínez-Monseny, Antonio F.
AU - Muchart, Jordi
AU - Cuadras, Daniel
AU - Montero, Raquel
AU - Artuch, Rafael
AU - Pérez-Cerdá, Celia
AU - Pérez, Belén
AU - Pérez-Dueñas, Belén
AU - Poretti, Andrea
AU - Serrano, Mercedes
AU - Aguilera-Albesa, Sergio
AU - Candela, Ramón Cancho
AU - Marina, Ma Llanos Carrasco
AU - Carratalá, Francisco
AU - Couce, Ma Luz
AU - Felipe, Ana
AU - García, Óscar
AU - García-Silva, Ma Teresa
AU - Gutiérrez-Solana, Luis G.
AU - Macaya, Alfons
AU - Miranda, Ma Concepción
AU - López, Laura
AU - López-Laso, Eduardo
AU - Póo, M. Pilar
AU - Quijada-Fraile, Pilar
AU - Robles, Bernabé
AU - Sierra-Córcoles, Concepción
AU - Velázquez-Fragua, Ramón
N1 - Publisher Copyright:
© 2017, SSIEM.
PY - 2017/9/1
Y1 - 2017/9/1
N2 - Objective: We aim to delineate the progression of cerebellar atrophy (the primary neuroimaging finding) in children with phosphomannomutase-deficiency (PMM2-CDG) by analyzing longitudinal MRI studies and performing cerebellar volumetric analysis and a 2D cerebellar measurement. Methods: Statistical analysis was used to compare MRI measurements [midsagittal vermis relative diameter (MVRD) and volume] of children with PMM2-CDG and sex- and age-matched controls, and to determine the rate of progression of cerebellar atrophy at different ages. Results: Fifty MRI studies of 33 PMM2-CDG patients were used for 2D evaluation, and 19 MRI studies were available for volumetric analysis. Results from a linear regression model showed that patients have a significantly lower MVRD and cerebellar volume compared to controls (p < 0.001 and p < 0.001 respectively). There was a significant negative correlation between age and MVRD for patients (p = 0.014). The rate of cerebellar atrophy measured by the loss of MVRD and cerebellar volume per year was higher at early ages (r = −0.578, p = 0.012 and r = −0.323, p = 0.48 respectively), particularly in patients under 11 years (p = 0.004). There was a significant positive correlation between MVRD and cerebellar volume in PMM2-CDG patients (r = 0.669, p = 0.001). Conclusions: Our study quantifies a progression of cerebellar atrophy in PMM2-CDG patients, particularly during the first decade of life, and suggests a simple and reliable measure, the MVRD, to monitor cerebellar atrophy. Quantitative measurement of MVRD and cerebellar volume are essential for correlation with phenotype and outcome, natural follow-up, and monitoring in view of potential therapies in children with PMM2-CDG.
AB - Objective: We aim to delineate the progression of cerebellar atrophy (the primary neuroimaging finding) in children with phosphomannomutase-deficiency (PMM2-CDG) by analyzing longitudinal MRI studies and performing cerebellar volumetric analysis and a 2D cerebellar measurement. Methods: Statistical analysis was used to compare MRI measurements [midsagittal vermis relative diameter (MVRD) and volume] of children with PMM2-CDG and sex- and age-matched controls, and to determine the rate of progression of cerebellar atrophy at different ages. Results: Fifty MRI studies of 33 PMM2-CDG patients were used for 2D evaluation, and 19 MRI studies were available for volumetric analysis. Results from a linear regression model showed that patients have a significantly lower MVRD and cerebellar volume compared to controls (p < 0.001 and p < 0.001 respectively). There was a significant negative correlation between age and MVRD for patients (p = 0.014). The rate of cerebellar atrophy measured by the loss of MVRD and cerebellar volume per year was higher at early ages (r = −0.578, p = 0.012 and r = −0.323, p = 0.48 respectively), particularly in patients under 11 years (p = 0.004). There was a significant positive correlation between MVRD and cerebellar volume in PMM2-CDG patients (r = 0.669, p = 0.001). Conclusions: Our study quantifies a progression of cerebellar atrophy in PMM2-CDG patients, particularly during the first decade of life, and suggests a simple and reliable measure, the MVRD, to monitor cerebellar atrophy. Quantitative measurement of MVRD and cerebellar volume are essential for correlation with phenotype and outcome, natural follow-up, and monitoring in view of potential therapies in children with PMM2-CDG.
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U2 - 10.1007/s10545-017-0028-4
DO - 10.1007/s10545-017-0028-4
M3 - Article
C2 - 28341975
AN - SCOPUS:85016178366
SN - 0141-8955
VL - 40
SP - 709
EP - 713
JO - Journal of Inherited Metabolic Disease
JF - Journal of Inherited Metabolic Disease
IS - 5
ER -