Reference:
1_Renieri
Abstract:
The preserved speech variant (Preserved Speech Variant, PSV) of Rett syndrome is characterized by a more favorable clinical course than the classical form (Zappella 1992). During the third stage, the PSV patients recover previously lost some skills: begin communicating with short sentences usually in the third person and observe an improvement in the use of the hands. Their motor skills improve to the point that some girls are able to climb and descend stairs independently. Both the classical form that the variant in language preserved are caused by mutation in the MECP2 gene, and the type of mutation is often similar, in some cases identical in the two clinical pictures (Scala et al. 2007). These data clearly suggest that factors such as the type of mutation in the MECP2 and / or state inactivation of the X chromosome are not sufficient to explain the clinical variability that is observed in RTT patients and that other genetic factors must be involved. Objectives Understanding the genetic factors that determine the difference between the classical form and the milder phenotype of patients PSV: this could pave the way for the development of therapeutic strategies aimed at mitigating the symptoms of RTT. In fact, by acting on these factors, the patients could improve their cognitive, language and motor skills.
PROJECT DETAILS
beginning: 2008.
end: 2010.
Country of research: Italy
Counry of funding source: Italy
Funding organization: AIRETT
Financing: PRIVATE FUNDERS – 50 000 €