title: Autosomal recessive congenital cerebellar atrophy. A clinical and neuropsychological study.
abstract: Congenital cerebellar atrophy associated with a non-progressive cerebellar syndrome and mild cognitive retardation is described in seven cases, four of them familial. Their occurrence is consistent with an autosomal recessive inheritance. Clinical and neuroimaging data seem to exclude supratentorial changes. Even though it is not possible to definitely rule out a possible role of the forebrain in determining the mental defect, the neuropsychological study supplies arguments stressing the relationship between cerebellar defect and cognitive development.
authors.affiliation: Unit of Child Neuropsychiatry, School of Medicine, University of Messina, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Guzzetta
authors.forename: E
authors.initials: E
authors.lastname: Mercuri
authors.forename: S
authors.initials: S
authors.lastname: Bonanno
authors.forename: M
authors.initials: M
authors.lastname: Longo
authors.forename: M
authors.initials: M
authors.lastname: Spanò
mesh_terms: D000161:Acoustic Stimulation; D001284:Atrophy; D002526:Cerebellar Diseases / Q000151:congenital / Q000235:genetics / Q000523:psychology*; D002531:Cerebellum / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D003071:Cognition / Q000502:physiology; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009483:Neuropsychological Tests; D010775:Photic Stimulation; D011597:Psychomotor Performance / Q000502:physiology; D011930:Reaction Time / Q000502:physiology; D014057:Tomography, X-Ray Computed; D014888:Wechsler Scales