2008, Number 2
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Rev Neurol Neurocir Psiquiat 2008; 41 (2)
Molecular characterization of metabolic diseases in which language impairment is a prominent symptom
Benítez BA
Language: Spanish
References: 10
Page: 64-79
PDF size: 90.33 Kb.
ABSTRACT
Molecular characterization of metabolic diseases in
which language impairment is a prominent symptom decisively
contributes to a better understanding of the effect of
the molecular and ontogenetic context on the development
of the language organ. Main etiological feature in
these diseases is actually diverse, as it may be disturbed
(i) hormone homeostasis; (ii) sugar, creatine, carnitine, lipid,
sulphur, organic acid, or aminoacid metabolism; (iii)
different cellular processes (lysosomal storage and mitochondrial
function). Metabolic disturbances ultimately lead
to structural and functional anomalies in different brain regions,
which positively correlate with the linguistic and cognitive
impairments. Functional cloning has greatly helped
to identify genes involved in such metabolic diseases, and
so to a better understanding of the innate programme involved
in the development of the linguistic module.
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