This Article Full Text (PDF) References Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Add to Saved Citations Download to citation manager Request Permissions Request Reprints Add to My Marked Citations Citing Articles Citing Articles via HighWire Citing Articles via Web of Science (7) Citing Articles via Google Scholar Citing Articles via Scopus Google Scholar Articles by Borgatti, R. Articles by Ferrarese, C. Search for Related Content PubMed PubMed Citation Articles by Borgatti, R. Articles by Ferrarese, C. Social Bookmarking                         What's this?

Pervasive Developmental Disorders and GABAergic System in Patients With Inverted Duplicated Chromosome 15

Department of Child Neurorehabilitation, Scientific Institute "Eugenio Medea," Bosisio Parini (Lecco), Italy, borgatti{at}bp.lnf.it

Paolo Piccinelli, MD

Department of Child Neuropsychiatry, University of Insubria, Varese, Italy

Davide Passoni, MD

Department of Child Neurorehabilitation, Scientific Institute "Eugenio Medea," Bosisio Parini (Lecco), Italy

Elisabetta Raggi, PhD

Department of Child Neurorehabilitation, Scientific Institute "Eugenio Medea," Bosisio Parini (Lecco), Italy

Carlo Ferrarese, MD, PhD

Department of Child Neurorehabilitation, Scientific Institute "Eugenio Medea," Bosisio Parini (Lecco), Italy, Department of Neurology, University of Milano Bicocca, H S. Gerardo, Monza, Italy

Pervasive developmental disorders are characterized by severe, pervasive impairment in several areas of development, with distorted communication skills and stereotypical behavior. Pervasive developmental disorders have a heterogeneous etiology related to brain damage, familial affective psychopathology, chromosomal abnormalities, or dysfunction of neuromodulators. Recently, it has been suggested that the GABRB3 gene, located within chromosome 15q11-13, is a candidate for pervasive developmental disorder. In inverted duplicated chromosome 15 syndrome, in which there is a small marker chromosome derived from inversion and duplication of the chromosome 15q11-q13 region, all patients present with pervasive developmental disorder. To further investigate a possible involvement of the -aminobutyoic acid (GABA)ergic system in the inverted duplicated chromosome 15 syndrome, we evaluated plasma levels of GABA and diazepam binding inhibitor in 6 patients with inverted duplicated chromosome 15 and in 8 subjects not affected by neurologic disease. Our findings do not seem to support this hypothesis as no significant differences were found in the GABA and diazepam binding inhibitor plasma levels between patients with inverted duplicated chromosome 15 and controls, but we must consider the possibility that a genetic abnormality of the GABA _A receptor could be present in patients with inverted duplicated chromosome 15 and still not be reflected in an alteration in either GABA or diazepam binding inhibitor levels in plasma. (J Child Neurol 2001;16:911-914).

Journal of Child Neurology, Vol. 16, No. 12, 911-914 (2001)
DOI: 10.1177/088307380101601209


CiteULike    Complore    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter    What's this?

This article has been cited by other articles:

				R. Borgatti, P. Piccinelli, D. Passoni, A. Romeo, M. Viri, S. A. Musumeci, M. Elia, T. Cogliati, D. Valseriati, R. Grasso, et al. Peripheral Markers of the {gamma}-Aminobutyric Acid (GABA)ergic System in Angelman's Syndrome J Child Neurol, January 1, 2003; 18(1): 21 - 25. [Abstract] [PDF]