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 language | Italian |
|---|---|
| Pages (from-to) | 21-35 |
| Number of pages | 15 |
| Journal | SAGGI - Neuropsicologia Infantile Psicopedagogia Riabilitazione |
| Volume | 24 |
| Issue number | 1 |
| Publication status | Published - 1998 |
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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 journal › Article
}
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 -