title: Cognitive profile and MRI findings in limb-girdle muscular dystrophy 2I.
abstract: 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 44 years, age range 19-69 years) 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.
authors.affiliation: Department of Neurosciences, University of Padua, Via Giustiniani 5, 35121 Padua, Italy. arianna.palmieri@unipd.it
authors.forename: A
authors.initials: A
authors.lastname: Palmieri
authors.forename: R
authors.initials: R
authors.lastname: Manara
authors.forename: L
authors.initials: L
authors.lastname: Bello
authors.forename: G
authors.initials: G
authors.lastname: Mento
authors.forename: L
authors.initials: L
authors.lastname: Lazzarini
authors.forename: C
authors.initials: C
authors.lastname: Borsato
authors.forename: L
authors.initials: L
authors.lastname: Bortolussi
authors.forename: C
authors.initials: C
authors.lastname: Angelini
authors.forename: E
authors.initials: E
authors.lastname: Pegoraro
mesh_terms: D000328:Adult; D000368:Aged; D001288:Attention / Q000502:physiology; D001931:Brain Mapping; D003072:Cognition Disorders / Q000175:diagnosis* / Q000209:etiology*; D004644:Emotions; D056344:Executive Function / Q000502:physiology; D005260:Female; D006801:Humans; D007361:Intelligence Tests; D007802:Language; D008279:Magnetic Resonance Imaging; D008297:Male; D008568:Memory; D008875:Middle Aged; D015999:Multivariate Analysis; D049288:Muscular Dystrophies, Limb-Girdle / Q000150:complications* / Q000473:pathology* / Q000523:psychology; D009460:Neurologic Examination; D009483:Neuropsychological Tests; D011788:Quality of Life; D055815:Young Adult