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. (c) 2007 Wiley-Liss, Inc.
Mental retardation and verbal dyspraxia in a new patient with de novo creatine transporter (SLC6A8) mutation / Roberta, B., Anna, C., Davide, M., Manuela, C., M., G.A., Leuzzi, V., Giovanni, F., Michela, T., M., C.B., Giovanni, C.. - In: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. - ISSN 1552-4825. - 143A:15(2007), pp. 1771-1774. [10.1002/ajmg.a.31827]
Mental retardation and verbal dyspraxia in a new patient with de novo creatine transporter (SLC6A8) mutation
LEUZZI, Vincenzo;
2007
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. (c) 2007 Wiley-Liss, Inc.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
