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

Authors


  • How to cite this article: Battini R, Chilosi A, Mei D, Casarano M, Alessandrì MG, Leuzzi V, Ferretti G, Tosetti M, Bianchi MC, Cioni G. 2007. Mental retardation and verbal dyspraxia in a new patient with de novo creatine transporter (SLC6A8) mutation. Am J Med Genet Part A 143A:1771–1774.

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 Wiley-Liss, Inc.

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