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Titolo:
BIOLOGICAL BASIS OF RETT-SYNDROME
Autore:
NAVARRO JF; ESPERT R;
Indirizzi:
UNIV MALAGA,FAC PSICOBIOL,AREA PSICOBIOL,CAMPUS TEATINOS E-29071 MALAGA SPAIN UNIV VALENCIA E-46003 VALENCIA SPAIN
Titolo Testata:
Psicologia conductual
fascicolo: 2, volume: 6, anno: 1998,
pagine: 295 - 309
SICI:
1132-9483(1998)6:2<295:BBOR>2.0.ZU;2-Z
Fonte:
ISI
Lingua:
SPA
Soggetto:
RECEPTOR GENE; DOPAMINERGIC FUNCTION; CEREBROSPINAL-FLUID; X-INACTIVATION; BRAIN; ABNORMALITIES; METABOLISM; CORTEX; MICROSCOPY; EXPRESSION;
Keywords:
RETT SYNDROME; GENETIC STUDIES; NEUROCHEMICAL STUDIES; NEUROPATHOLOGICAL STUDIES; NEUROPHYSIOLOGICAL STUDIES;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Physical, Chemical & Earth Sciences
Citazioni:
62
Recensione:
Indirizzi per estratti:
Citazione:
J.F. Navarro e R. Espert, "BIOLOGICAL BASIS OF RETT-SYNDROME", Psicologia conductual, 6(2), 1998, pp. 295-309

Abstract

This paper reviews the main genetic, neurochemical, neuropathologicaland neurophysiological studies on Rett syndrome (RS), a disorder of the early childhood characterized by a progressive loss of cognitive and motor skills as well as the development of stereotypic hand movements. Although the mode of transmission of RS is unclear, it has been associated to two loci, one on the X chromosome and other autosomal, possibly on chromosome 11. Likewise, it has been suggested that mitochondrial DNA (DNAmt) and genes encoding neural growth factors and their receptors may be relevant to RS. On the other hand, from a neurochemical point of view, although findings are not concordant, it has been described in RS the presence of abnormalities in dopamine function as well as a primary deficit in the functioning of cholinergic system. Neuropathological studies in patients with RS have confirmed the existence of: (a) a generalized brain atrophy involving the cerebrum and cerebellum; (b) a decrease in neuronal cell size and an increased cell packing density; (c) a reduction in the number of basal forebrain cholinergic neurons, and (d) a reduction in the concentration of melanin-containing neurons in the substantia nigra. Finally several neurophysiological studies have demonstrated irregularities of breathing during wakefulness in patients with RS, suggesting a cortical involvement in the brainstem respiratory control.

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Documento generato il 27/01/20 alle ore 08:02:46