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

Roberta Battini, Anna Chilosi, Davide Mei, Manuela Casarano, M. Grazia Alessandrì, Vincenzo Leuzzi, Giovanni Ferretti, Michela Tosetti, M. Cristina Bianchi, Giovanni Cioni

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)1771-1774
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume143
Issue number15
DOIs
Publication statusPublished - Aug 1 2007

Keywords

  • Creatine transporter (CT1) deficiency
  • Developmental verbal apraxia
  • SLC6A8 gene mutation
  • X-linked mental retardation (XLMR)

ASJC Scopus subject areas

  • Genetics(clinical)

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