title: Mental retardation and verbal dyspraxia in a new patient with de novo creatine transporter (SLC6A8) mutation.
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.
authors.affiliation: Department of Developmental Neuroscience, IRCCS Stella Maris, Calambrone, Pisa, Italy.
authors.forename: Roberta
authors.initials: R
authors.lastname: Battini
authors.forename: Anna
authors.initials: A
authors.lastname: Chilosi
authors.forename: Davide
authors.initials: D
authors.lastname: Mei
authors.forename: Manuela
authors.initials: M
authors.lastname: Casarano
authors.forename: M Grazia
authors.initials: MG
authors.lastname: Alessandrì
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Leuzzi
authors.forename: Giovanni
authors.initials: G
authors.lastname: Ferretti
authors.forename: Michela
authors.initials: M
authors.lastname: Tosetti
authors.forename: M Cristina
authors.initials: MC
authors.lastname: Bianchi
authors.forename: Giovanni
authors.initials: G
authors.lastname: Cioni
mesh_terms: D000927:Anticonvulsants / Q000627:therapeutic use; D001072:Apraxias / Q000235:genetics*; D002648:Child; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007361:Intelligence Tests; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D009154:Mutation; D012640:Seizures / Q000188:drug therapy / Q000209:etiology
chemical_list: D000927:Anticonvulsants; D026901:Membrane Transport Proteins; C080679:creatine transporter