Serrano M, de Diego V, Muchart J, Cuadras D, Felipe A, Macaya A, et al
. Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment. Orphanet J Rare Dis. 2015;10:138 pubmed publisher
..For the first a correlation between ICARS, neuroimaging and IQ in PMM2-CDG patients has been demonstrated. ..
Serrano M. Epigenetic cerebellar diseases. Handb Clin Neurol. 2018;155:227-244 pubmed publisher
..However, such understanding will lead to promising new therapeutic possibilities as is already occurring in other areas of medicine. ..
Izquierdo Serra M, Martinez Monseny A, Lopez L, Carrillo Garcia J, Edo A, Ortigoza Escobar J, et al
. Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy. Int J Mol Sci. 2018;19: pubmed publisher
..1 channel. CaV2.1 hypoglycosylation may cause ataxia and SLEs in PMM2-CDG patients. Aberrant CaV2.1 N-glycosylation as a novel pathomechanism in PMM2-CDG opens new therapeutic possibilities. ..
Serrano M, Lizarraga I, Reiss J, Dias A, Perez Duenas B, Vilaseca M, et al
. Cranial ultrasound and chronological changes in molybdenum cofactor deficiency. Pediatr Radiol. 2007;37:1043-6 pubmed
..Our report supports the utility of cranial US, a noninvasive bed-side technique, in the detection and follow-up of these rapidly changing lesions. ..
de Diego V, Martinez Monseny A, Muchart J, Cuadras D, Montero R, Artuch R, et al
. Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG). J Inherit Metab Dis. 2017;40:709-713 pubmed publisher
..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. ..
Serrano N, de Diego V, Cuadras D, Martinez Monseny A, Velázquez Fragua R, Lopez L, et al
. A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG). Orphanet J Rare Dis. 2017;12:155 pubmed publisher
..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. ..