A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG)
Serrano, Natalia Lourdes (Hospital Garrahan)
De Diego, Victor (Centro de Investigación Biomédica en Red de Enfermedades Raras)
Cuadras, Daniel (Fundació Sant Joan de Déu)
Martinez Monseny, Antonio F. (Hospital Sant Joan de Déu (Manresa))
Velázquez-Fragua, Ramón (Hospital Universitario La Paz (Madrid))
López, Laura (Hospital Infantil Universitario Niño Jesús (Madrid))
Felipe-Rucián, Ana (Hospital Universitari Vall d'Hebron. Institut de Recerca)
González Gutiérrez-Solana, Luis (Hospital Infantil Universitario Niño Jesús (Madrid))
Macaya Ruiz, Alfons (Hospital Universitari Vall d'Hebron. Institut de Recerca)
Pérez-Dueñas, Belén (Centro de Investigación Biomédica en Red de Enfermedades Raras)
Serrano, Mercedes (Hospital Sant Joan de Déu (Barcelona, Catalunya))
Universitat Autònoma de Barcelona

Data:	2017
Resum:	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. 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. 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. The online version of this article (10. 1186/s13023-017-0707-0) contains supplementary material, which is available to authorized users.
Ajuts:	Ministerio de Economía, Industria y Competitividad PI14/00021 Ministerio de Ciencia e Innovación PI11/01096 Instituto de Salud Carlos III PI11/01250 Instituto de Salud Carlos III PI10/00455 Ministerio de Economía, Industria y Competitividad PT-2012-0561-010000
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Llengua:	Anglès
Document:	Article ; recerca ; Versió publicada
Matèria:	Cerebellum ; Congenital disorders of glycosylation ; Developmental disorders ; Gait disorders/ataxia ; ICARS ; MRI
Publicat a:	Orphanet Journal of Rare Diseases, Vol. 12 (september 2017) , ISSN 1750-1172

DOI: 10.1186/s13023-017-0707-0
PMID: 28915903

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