caa a22 4500 445808284 CHVBK 20180317145203.0 cr unu---uuuuu 170323e20110701xx s 000 0 eng 10.1007/s00415-011-5930-3 doi (NATIONALLICENCE)springer-10.1007/s00415-011-5930-3 Cognitive profile and MRI findings in limb-girdle muscular dystrophy 2I [Elektronische Daten] [A. Palmieri, R. Manara, L. Bello, G. Mento, L. Lazzarini, C. Borsato, L. Bortolussi, C. Angelini, E. Pegoraro] Limb-girdle muscular dystrophy 2I (LGMD2I) is a neuromuscular disorder with a heterogeneous phenotype. It is caused by mutations in the Fukutin Related Protein (FKRP) gene, which is ubiquitously expressed in human tissues. FKRP functions in CNS are largely unknown. To investigate possible cognitive impairment in LGMD2I and to describe brain MRI features. Ten LGMD2I patients (four males and six females, mean age 44years, age range 19-69years) were assessed with an extensive neuropsychological battery, psychopathological tests and neuromuscular specific quality-of-life questionnaire. Adults were compared with ten matched healthy controls. All patients underwent complete neurological examination, and nine underwent brain MRI scanning. Patients showed a fairly specific cognitive profile with mild impairment in executive functions and visuo-spatial planning without substantial impairment in global and logic IQ. MRI findings were heterogeneous: four patients showed non-specific white matter abnormalities; two patients showed moderate ventriculomegaly; three patients showed mild enlargement of subarachnoid spaces, without a specific pattern. Cerebellar atrophy was marked in one patient. Abnormal glycosylation of α-dystroglycan in LGMD2I may interfere with brain development and cognitive performances involving the frontal and posterior parietal regions, but does not result in specific brain MRI abnormalities. Springer-Verlag, 2011 FKRP nationallicence LGMD2I nationallicence α-Dystroglycan nationallicence Cognitive profile nationallicence Brain MRI nationallicence Muscular dystrophy nationallicence Palmieri A. Department of Neurosciences, University of Padua, Via Giustiniani 5, 35121, Padua, Italy aut Manara R. Neuroradiologic Unit, University Hospital of Padua, Padua, Italy aut Bello L. Department of Neurosciences, University of Padua, Via Giustiniani 5, 35121, Padua, Italy aut Mento G. Department of General Psychology, University of Padua, Padua, Italy aut Lazzarini L. Department of Neurosciences, University of Padua, Via Giustiniani 5, 35121, Padua, Italy aut Borsato C. Department of Neurosciences, University of Padua, Via Giustiniani 5, 35121, Padua, Italy aut Bortolussi L. Department of Neurosciences, University of Padua, Via Giustiniani 5, 35121, Padua, Italy aut Angelini C. Department of Neurosciences, University of Padua, Via Giustiniani 5, 35121, Padua, Italy aut Pegoraro E. Department of Neurosciences, University of Padua, Via Giustiniani 5, 35121, Padua, Italy aut Journal of Neurology Springer-Verlag 258/7(2011-07-01), 1312-1320 0340-5354 258:7<1312 2011 258 415 https://doi.org/10.1007/s00415-011-5930-3 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00415-011-5930-3 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Palmieri A. Department of Neurosciences, University of Padua, Via Giustiniani 5, 35121, Padua, Italy aut NATIONALLICENCE 700 1- Manara R. Neuroradiologic Unit, University Hospital of Padua, Padua, Italy aut NATIONALLICENCE 700 1- Bello L. Department of Neurosciences, University of Padua, Via Giustiniani 5, 35121, Padua, Italy aut NATIONALLICENCE 700 1- Mento G. Department of General Psychology, University of Padua, Padua, Italy aut NATIONALLICENCE 700 1- Lazzarini L. Department of Neurosciences, University of Padua, Via Giustiniani 5, 35121, Padua, Italy aut NATIONALLICENCE 700 1- Borsato C. Department of Neurosciences, University of Padua, Via Giustiniani 5, 35121, Padua, Italy aut NATIONALLICENCE 700 1- Bortolussi L. Department of Neurosciences, University of Padua, Via Giustiniani 5, 35121, Padua, Italy aut NATIONALLICENCE 700 1- Angelini C. Department of Neurosciences, University of Padua, Via Giustiniani 5, 35121, Padua, Italy aut NATIONALLICENCE 700 1- Pegoraro E. Department of Neurosciences, University of Padua, Via Giustiniani 5, 35121, Padua, Italy aut NATIONALLICENCE 773 0- Journal of Neurology Springer-Verlag 258/7(2011-07-01), 1312-1320 0340-5354 258:7<1312 2011 258 415 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer