Reduced basal forebrain and hippocampal activation during memory encoding in girls with fragile X syndrome

Greicius, Michael D.; Boyett-Anderson, Jesse M.; Menon, Vinod; Reiss, Allan L.

doi:10.1097/01.wnr.0000134472.44362.be

Cited by 33 publications

(27 citation statements)

References 19 publications

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“…While the hippocampus itself may be enlarged, individuals with FXS show reduced hippocampal activation during visual memory encoding (Greicius et al, 2004), as well as deficits in episodic memory (de von Flindt et al, 1991). Taken together, these findings lend support to the idea that the Fmr1 gene plays an important role in hippocampal structural development and thus the proper functioning of the hippocampus.…”

Section: Hippocampal Neuropathology In Fxs Patientsmentioning

confidence: 85%

Hippocampal dysfunction and cognitive impairment in Fragile-X Syndrome

Bostrom

Yau

Majaess

et al. 2016

Neuroscience & Biobehavioral Reviews

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Section: Hippocampal Neuropathology In Fxs Patientsmentioning

confidence: 85%

Hippocampal dysfunction and cognitive impairment in Fragile-X Syndrome

Bostrom

Yau

Majaess

et al. 2016

Neuroscience & Biobehavioral Reviews

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“…For example, in a study of episodic memory in females [Greicius et al, 2004], results indicated decreased activation in the hippocampus and basal forebrain for girls with FraX compared to their typically developing peers. In conjunction with the finding that high levels of FMR1 mRNA occurs in both of these brain regions during human fetal development [Abitbol et al 1993] and the knowledge that cholinergic pathways in the basal forebrain and hippocampus are critical to numerous important cognitive functions, these data provided motivation to design a clinical trial of a medication intended to enhance cholinergic neurotransmission in the brain and subsequently improve learning and memory [Kesler et al, 2009].…”

Section: Resultsmentioning

confidence: 99%

Gene, brain, and behavior relationships in fragile X syndrome: Evidence from neuroimaging studies

Lightbody

Reiss

2009

Dev Disabil Res Revs

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Fragile X syndrome (FraX) remains the most common inherited cause of intellectual disability and provides a valuable model for studying gene-brain-behavior relationships. Over the past 15 years, structural and functional magnetic resonance imaging studies have emerged with the goal of better understanding the neural pathways contributing to the cognitive and behavioral outcomes seen in individuals with FraX. Specifically, structural MRI studies have established and begun to refine the specific topography of neuroanatomical variation associated with FraX. In addition, functional neuroimaging studies have begun to elucidate the neural underpinnings of many of the unique characteristics of FraX including difficulties with eye gaze, executive functioning, and behavioral inhibition. This review highlights studies with a focus on the relevant gene-brain-behavior connections observed in FraX. The relationship of brain regions and activation patterns to FMRP are discussed as well as the clinical cognitive and behavioral correlates of these neuroimaging findings.

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“…A recent study using fMRI during visual memory encoding uncovered decreased activation in the hippocampus and orbital regions of the frontal cortex [Greicius et al, 2004]. Other studies have reported volumetric abnormalities in select brain regions, including the hippocampus [see Hessl et al, 2004 for review].…”

Section: Fragile X Syndromementioning

confidence: 98%

The contribution of novel brain imaging techniques to understanding the neurobiology of mental retardation and developmental disabilities

Gothelf

Furfaro

Penniman

et al. 2005

Ment. Retard. Dev. Disabil. Res. Rev.

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Studying the biological mechanisms underlying mental retardation and developmental disabilities (MR/DD) is a very complex task. This is due to the wide heterogeneity of etiologies and pathways that lead to MR/DD. Breakthroughs in genetics and molecular biology and the development of sophisticated brain imaging techniques during the last decades have facilitated the emergence of a field called Behavioral Neurogenetics. Behavioral Neurogenetics focuses on studying genetic diseases with known etiologies that are manifested by unique cognitive and behavioral phenotypes. In this review, we describe the principles of magnetic resonance imaging (MRI) techniques, including structural MRI, functional MRI, and diffusion tensor imaging (DTI), and how they are implemented in the study of Williams (WS), velocardiofacial (VCFS), and fragile X (FXS) syndromes. From WS we learn that dorsal stream abnormalities can be associated with visuospatial deficits; VCFS is a model for exploring the molecular and brain pathways that lead to psychiatric disorders for which subjects with MR/DD are at increased risk; and finally, findings from multimodal imaging techniques show that aberrant frontal-striatal connections are implicated in the executive function and attentional deficits of subjects with FXS. By deciphering the molecular pathways and brain structure and function associated with cognitive deficits, we will gain a better understanding of the pathophysiology of MR/DD, which will eventually make possible more specific treatments for this population.

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Reduced basal forebrain and hippocampal activation during memory encoding in girls with fragile X syndrome

Cited by 33 publications

References 19 publications

Hippocampal dysfunction and cognitive impairment in Fragile-X Syndrome

Hippocampal dysfunction and cognitive impairment in Fragile-X Syndrome

Gene, brain, and behavior relationships in fragile X syndrome: Evidence from neuroimaging studies

The contribution of novel brain imaging techniques to understanding the neurobiology of mental retardation and developmental disabilities

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