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Home > Students & health professionals > Books & Publications > Publications > Cognitive impairments in inherited metabolicdiseases: Promises and (...)

Cognitive impairments in inherited metabolicdiseases: Promises and challenges

Cristina Romani, COGNITIVE NEUROPSYCHOLOGY, 2018VOL. 35, NOS. 3–4, 113–119


ABSTRACTThis is an introduction to the special issue on cognitive impairments in inherited metabolic diseases(IMD). It provides an overview of the studies included, focusing on the possibility of selectiveimpairments which could provide unique evidence on the specificity of neural circuitriesmediating cognitive functions. It will suggest that these circuitries have different metabolicproperties which make them especially apt to carry out certain functions, but also particularlysusceptible to certain forms of metabolic disruption. Knowledge of selective impairments is alsocrucial to properly evaluate the difficulties engendered by individual diseases and tracktreatment outcomes. IMR research holds the promise of a more complete understanding ofcognition, from cellular functioning to behaviour and of further improvements in treatment.Advances, however, will require detailed assessments, comparisons across diseases, and theintegration of different levels of explanation. This will be possible only through closecollaborations between centres and types of professionals

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