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.

Mental retardation and verbal dyspraxia in a new patient with de novo creatine transporter (SLC6A8) mutation

Battini R;Cioni G
2007-01-01

Abstract

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.
2007
Battini, R; Chilosi, A; Mei, D; Casarano, M; Alessandrì, Mg; Leuzzi, V; Ferretti, G; Tosetti, M; Bianchi, Mc; Cioni, G
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11568/951131
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