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

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

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

Author(s) -

Battini Roberta,

Chilosi Anna,

Mei Davide,

Casarano Manuela,

Alessandrì M. Grazia,

Leuzzi Vincenzo,

Ferretti Giovanni,

Tosetti Michela,

Bianchi M. Cristina,

Cioni Giovanni

Publication year - 2007

Publication title -

american journal of medical genetics part a

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.064

H-Index - 112

eISSN - 1552-4833

pISSN - 1552-4825

DOI - 10.1002/ajmg.a.31827

Subject(s) - mutation , medicine , transporter , genetics , psychology , neuroscience , biology , gene

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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