2. Academic Validation
  3. Mental retardation and verbal dyspraxia in a new patient with de novo creatine transporter (SLC6A8) mutation

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

  • Am J Med Genet A. 2007 Aug 1;143A(15):1771-4. doi: 10.1002/ajmg.a.31827.
Roberta Battini 1,  Anna Chilosi,  Davide Mei,  Manuela Casarano,  M Grazia Alessandrì,  Vincenzo Leuzzi,  Giovanni Ferretti,  Michela Tosetti,  M Cristina Bianchi,  Giovanni Cioni
Affiliations

Affiliation

  • 1 Department of Developmental Neuroscience, IRCCS Stella Maris, Calambrone, Pisa, Italy.
PMID: 17603797 DOI: 10.1002/ajmg.a.31827
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.

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