We report on a 9.5-year-old Italian boy affected by creatine transporter deficit (CT1), due to a de novo mutation in SLC6A8 gene. The patient was investigated by means of a comprehensive neuropsychological protocol and presented with an unusual alteration of speech and expressive-language function, associated with mental retardation, that differed from CT1 patients described to date. In particular, he exhibited a developmental apraxia of speech (DAS) with motor planning and execution deficit, while receptive language was consistent with his mental age.
|Autori:||BATTINI R; CHILOSI A; MEI D; CASARANO M; ALESSANDRÌ MG; LEUZZI V; FERRETTI G; TOSETTI M; BIANCHI MC; CIONI G|
|Titolo:||Mental retardation and verbal dyspraxia in a new patient with de novo creatine transporter (SLC6A8) mutation,|
|Anno del prodotto:||2007|
|Appare nelle tipologie:||1.1 Articolo in rivista|