title: Congenital ataxia and mental retardation in three brothers.
abstract: Nonprogressive congenital ataxia is a complex group of disorders caused by a variety of etiologic factors, both environmental and genetic. Hereditary forms represent a substantial part of congenital ataxias, which are difficult to classify because of their phenotypic and genetic polymorphism. Despite the advances in molecular genetics, for most nonprogressive congenital ataxia the etiology is still unknown. This report describes three sons of nonconsanguineous healthy parents, who manifested a syndrome characterized by nonprogressive ataxia, mental retardation, pyramidal signs, ocular and ocular motor anomalies, associated with severe hypoplasia of the cerebellar vermis and hemispheres on neuroimaging. All the patients have presented psychomotor developmental delay. As differential diagnosis, a comparison is made between the clinical features of these patients and the previously reported cases of nonprogressive congenital ataxia. This report represents a further example of the phenotypic and genetic heterogeneity of the syndromes with congenital ataxia.
authors.affiliation: Child Neurological and Psychiatric Service, Department of Neurological and Psychiatric Sciences, University of Bari, Bari, Italy.
authors.forename: Lucia
authors.initials: L
authors.lastname: Margari
authors.forename: Patrizia
authors.initials: P
authors.lastname: Ventura
authors.forename: Anna
authors.initials: A
authors.lastname: Presicci
authors.forename: Maura
authors.initials: M
authors.lastname: Buttiglione
authors.forename: Tommaso
authors.initials: T
authors.lastname: Perniola
mesh_terms: D000293:Adolescent; D001259:Ataxia / Q000151:congenital / Q000473:pathology*; D002531:Cerebellum / Q000473:pathology; D002540:Cerebral Cortex / Q000473:pathology; D002648:Child; D002658:Developmental Disabilities / Q000473:pathology*; D006801:Humans; D008607:Intellectual Disability / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D035781:Siblings