Mental retardation and verbal dyspraxia in a new patient with de novo creatine transporter (SLC6A8) mutation.
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.
Battini
Roberta
R
Department of Developmental Neuroscience, IRCCS Stella Maris, Calambrone, Pisa, Italy.
Chilosi
Anna
A
Mei
Davide
D
Casarano
Manuela
M
Alessandrì
M Grazia
MG
Leuzzi
Vincenzo
V
Ferretti
Giovanni
G
Tosetti
Michela
M
Bianchi
M Cristina
MC
Cioni
Giovanni
G
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
D000927:Anticonvulsants; D026901:Membrane Transport Proteins; C080679:creatine transporter