title: Brain MRI abnormalities in muscular dystrophy due to FKRP mutations.
abstract: BACKGROUND
  FKRP mutations cause a muscular dystrophy which may present in the neonatal period (MDC1C) or later in life (LGMD2I). Intelligence and brain imaging have been previously reported as being normal in FKRP-associated muscular dystrophy, except in rare cases presenting with mental retardation associated with structural brain abnormalities.
  
  
  METHODS
  We studied cerebral MRIs in twelve patients with FKRP-associated muscular dystrophy presenting in infancy or early childhood, at ages between 14 months and 43 years. Two patients had severe cognitive deficits, four had mild-moderate mental retardation and the rest were considered to have normal intelligence. All, but one were wheelchair-bound and 7 were mechanically ventilated.
  
  
  RESULTS
  Brain MRI was abnormal in 9 of 12 patients. Brain atrophy was seen in 8 patients. One child had isolated ventricular enlargement at 4 years. Cortical atrophy involved predominantly temporal and frontal lobes and was most important at later ages. In two cases with serial images this atrophy seemed progressive. Three patients, two with severe and one with moderate mental retardation, showed structural abnormalities of the posterior fossa with hypoplasia of the vermis and pons, and cerebellar hemispheric cysts. These abnormalities were stable with time. Two of these three patients also showed diffuse white matter abnormalities in early childhood, which regressed with time.
  
  
  CONCLUSIONS
  MRI abnormalities are common in patients with FKRP-associated muscular dystrophy presenting at birth or in early childhood. Progressive brain atrophy is the most frequent finding. Posterior fossa malformations and transient white matter changes may be seen in patients with associated mental retardation.
authors.affiliation: Unité de Neurologie Pédiatrique, Service de Pédiatrie, Rééducation et Réanimation Neurorespiratoire, Hôpital Raymond Poincaré, 92380, Garches, France. susana.quijano-roy@rpc.aphp.fr
authors.forename: Susana
authors.initials: S
authors.lastname: Quijano-Roy
authors.forename: Itxaso
authors.initials: I
authors.lastname: Martí-Carrera
authors.forename: Samira
authors.initials: S
authors.lastname: Makri
authors.forename: Michèle
authors.initials: M
authors.lastname: Mayer
authors.forename: Svetlana
authors.initials: S
authors.lastname: Maugenre
authors.forename: Pascale
authors.initials: P
authors.lastname: Richard
authors.forename: Carole
authors.initials: C
authors.lastname: Berard
authors.forename: Louis
authors.initials: L
authors.lastname: Viollet
authors.forename: Bruno
authors.initials: B
authors.lastname: Leheup
authors.forename: Pascale
authors.initials: P
authors.lastname: Guicheney
authors.forename: Jean-Marc
authors.initials: JM
authors.lastname: Pinard
authors.forename: Brigitte
authors.initials: B
authors.lastname: Estournet
authors.forename: Robert Y
authors.initials: RY
authors.lastname: Carlier
mesh_terms: D000293:Adolescent; D000328:Adult; D001284:Atrophy / Q000235:genetics / Q000473:pathology; D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D009136:Muscular Dystrophies / Q000150:complications* / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009421:Nervous System Malformations / Q000235:genetics*; D010430:Pentosyltransferases; D011506:Proteins / Q000235:genetics*
chemical_list: D011506:Proteins; C443107:FKRP protein, human; D010430:Pentosyltransferases