title: Like father, like son: periventricular nodular heterotopia and nonverbal learning disorder.
abstract: Periventricular nodular heterotopia is a common malformation of cortical development in which the migration of developing neurons destined for the cerebral cortex is abbreviated. Bilateral periventricular nodular heterotopia is most commonly an X-linked disorder that involves mutations in the filamin A (FLNA) gene, but an autosomal recessive form and sporadic forms have been identified. To our knowledge, autosomal dominant transmission of isolated periventricular nodular heterotopia has not been reported. Periventricular nodular heterotopia has a heterogeneous phenotype, associated commonly with seizure disorder, and more recently with reading deficits and visual-spatial deficits in some patients. We present a father and son with bilateral periventricular nodular heterotopia and similar visual-spatial learning deficits, consistent with nonverbal learning disability.
authors.affiliation: Department of Neurology, Division of Pediatric Neurology, Indiana University, Indianapolis, Indiana 46202, USA. mamccann@iupui.edu
authors.forename: Marcia V
authors.initials: MV
authors.lastname: McCann
authors.forename: Stephen J
authors.initials: SJ
authors.lastname: Pongonis
authors.forename: Meredith R
authors.initials: MR
authors.lastname: Golomb
authors.forename: Mary
authors.initials: M
authors.lastname: Edwards-Brown
authors.forename: Celanie K
authors.initials: CK
authors.lastname: Christensen
authors.forename: Deborah K
authors.initials: DK
authors.lastname: Sokol
mesh_terms: D000328:Adult; D002552:Cerebral Ventricles / Q000473:pathology; D002648:Child; D002869:Chromosome Aberrations; D003210:Concept Formation; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics*; D004292:Dominance, Cerebral / Q000502:physiology; D005625:Frontal Lobe / Q000473:pathology; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D007360:Intelligence / Q000235:genetics; D007859:Learning Disabilities / Q000175:diagnosis / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D008433:Mathematics; D008569:Memory Disorders / Q000175:diagnosis / Q000235:genetics; D009483:Neuropsychological Tests; D009949:Orientation; D010364:Pattern Recognition, Visual; D054091:Periventricular Nodular Heterotopia / Q000175:diagnosis / Q000235:genetics*; D011340:Problem Solving; D014888:Wechsler Scales