Profilo clinico, neuropsicologico e correlati neurochimici in alcune sindromi coinvolgenti il cromosoma 15: Revisione della letteratura e analisi di una casistica personale

Translated title of the contribution: Clinical, neuropsychological and neurochemical findings in chromosome 15 alterations: Literature review and personal cases

D. Passoni, R. Borgatti, R. Grasso, R. Micheli, S. Musumeci, M. E. Raggi, A. Romeo, C. Zoia, L. Dalprà, C. Ferrarese

Research output: Contribution to journalArticle

Abstract

Angelman (AS), Prader-Willi (PWS) and Inv Dup(15) (IDS) syndromes are different disorders linked to alterations of chromosome 15. We considered 34 patients: 21 with AS, 7 with PWS and 6 with IDS, in which the clinical and neuropsychological features do not differ from the literature data. Since genes for three GABA-A receptor subunits (GABRB3, GABRA5 and GABRG3) map in this chromosome region, the GABAergic system can be involved in some neurological manifestations of these syndromes. For this reason, we evaluated the plasma levels of Diazepam Binding Inhibitor (DBI), a putative modulator of GABAergic system; cortisol, ACTH, thyroid hormones and gonadotropines to analize the hypotalamus-hypophysis axis; and the urinary excretion of serotonin and catecolamine metabolites as peripheral markers of the serotoninergic and noradrenergic systems. We also excluded an hypotalamo- hypophysis axis alteration as origin of the clinical manifestations. On the other hand our patients showed a significant reduction (p

Original languageItalian
Pages (from-to)21-35
Number of pages15
JournalSAGGI - Neuropsicologia Infantile Psicopedagogia Riabilitazione
Volume24
Issue number1
Publication statusPublished - 1998

Fingerprint

Chromosomes, Human, Pair 15
Pituitary Gland
GABA Modulators
Diazepam Binding Inhibitor
GABA-A Receptors
Neurologic Manifestations
Thyroid Hormones
Adrenocorticotropic Hormone
Hydrocortisone
Serotonin
Chromosomes
Genes
Isodicentric Chromosome 15 Syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neuroscience(all)
  • Psychology(all)

Cite this

Profilo clinico, neuropsicologico e correlati neurochimici in alcune sindromi coinvolgenti il cromosoma 15 : Revisione della letteratura e analisi di una casistica personale. / Passoni, D.; Borgatti, R.; Grasso, R.; Micheli, R.; Musumeci, S.; Raggi, M. E.; Romeo, A.; Zoia, C.; Dalprà, L.; Ferrarese, C.

In: SAGGI - Neuropsicologia Infantile Psicopedagogia Riabilitazione, Vol. 24, No. 1, 1998, p. 21-35.

Research output: Contribution to journalArticle

@article{e3c1e4ee437e4e5fab7bacec86a654bc,
title = "Profilo clinico, neuropsicologico e correlati neurochimici in alcune sindromi coinvolgenti il cromosoma 15: Revisione della letteratura e analisi di una casistica personale",
abstract = "Angelman (AS), Prader-Willi (PWS) and Inv Dup(15) (IDS) syndromes are different disorders linked to alterations of chromosome 15. We considered 34 patients: 21 with AS, 7 with PWS and 6 with IDS, in which the clinical and neuropsychological features do not differ from the literature data. Since genes for three GABA-A receptor subunits (GABRB3, GABRA5 and GABRG3) map in this chromosome region, the GABAergic system can be involved in some neurological manifestations of these syndromes. For this reason, we evaluated the plasma levels of Diazepam Binding Inhibitor (DBI), a putative modulator of GABAergic system; cortisol, ACTH, thyroid hormones and gonadotropines to analize the hypotalamus-hypophysis axis; and the urinary excretion of serotonin and catecolamine metabolites as peripheral markers of the serotoninergic and noradrenergic systems. We also excluded an hypotalamo- hypophysis axis alteration as origin of the clinical manifestations. On the other hand our patients showed a significant reduction (p",
keywords = "Chromosome 15, GABAergic system, Genetic and mental retardation",
author = "D. Passoni and R. Borgatti and R. Grasso and R. Micheli and S. Musumeci and Raggi, {M. E.} and A. Romeo and C. Zoia and L. Dalpr{\`a} and C. Ferrarese",
year = "1998",
language = "Italian",
volume = "24",
pages = "21--35",
journal = "SAGGI - Child Development and Disabilities",
issn = "0390-5179",
publisher = "Associazione La Nostra Famiglia",
number = "1",

}

TY - JOUR

T1 - Profilo clinico, neuropsicologico e correlati neurochimici in alcune sindromi coinvolgenti il cromosoma 15

T2 - Revisione della letteratura e analisi di una casistica personale

AU - Passoni, D.

AU - Borgatti, R.

AU - Grasso, R.

AU - Micheli, R.

AU - Musumeci, S.

AU - Raggi, M. E.

AU - Romeo, A.

AU - Zoia, C.

AU - Dalprà, L.

AU - Ferrarese, C.

PY - 1998

Y1 - 1998

N2 - Angelman (AS), Prader-Willi (PWS) and Inv Dup(15) (IDS) syndromes are different disorders linked to alterations of chromosome 15. We considered 34 patients: 21 with AS, 7 with PWS and 6 with IDS, in which the clinical and neuropsychological features do not differ from the literature data. Since genes for three GABA-A receptor subunits (GABRB3, GABRA5 and GABRG3) map in this chromosome region, the GABAergic system can be involved in some neurological manifestations of these syndromes. For this reason, we evaluated the plasma levels of Diazepam Binding Inhibitor (DBI), a putative modulator of GABAergic system; cortisol, ACTH, thyroid hormones and gonadotropines to analize the hypotalamus-hypophysis axis; and the urinary excretion of serotonin and catecolamine metabolites as peripheral markers of the serotoninergic and noradrenergic systems. We also excluded an hypotalamo- hypophysis axis alteration as origin of the clinical manifestations. On the other hand our patients showed a significant reduction (p

AB - Angelman (AS), Prader-Willi (PWS) and Inv Dup(15) (IDS) syndromes are different disorders linked to alterations of chromosome 15. We considered 34 patients: 21 with AS, 7 with PWS and 6 with IDS, in which the clinical and neuropsychological features do not differ from the literature data. Since genes for three GABA-A receptor subunits (GABRB3, GABRA5 and GABRG3) map in this chromosome region, the GABAergic system can be involved in some neurological manifestations of these syndromes. For this reason, we evaluated the plasma levels of Diazepam Binding Inhibitor (DBI), a putative modulator of GABAergic system; cortisol, ACTH, thyroid hormones and gonadotropines to analize the hypotalamus-hypophysis axis; and the urinary excretion of serotonin and catecolamine metabolites as peripheral markers of the serotoninergic and noradrenergic systems. We also excluded an hypotalamo- hypophysis axis alteration as origin of the clinical manifestations. On the other hand our patients showed a significant reduction (p

KW - Chromosome 15

KW - GABAergic system

KW - Genetic and mental retardation

UR - http://www.scopus.com/inward/record.url?scp=13144268577&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=13144268577&partnerID=8YFLogxK

M3 - Articolo

AN - SCOPUS:13144268577

VL - 24

SP - 21

EP - 35

JO - SAGGI - Child Development and Disabilities

JF - SAGGI - Child Development and Disabilities

SN - 0390-5179

IS - 1

ER -