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
| Translated title of the contribution | Clinical, neuropsychological and neurochemical findings in chromosome 15 alterations: Literature review and personal cases |
|---|---|
| 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 |
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Neuroscience(all)
- Psychology(all)