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Research Article Free access | 10.1172/JCI119538

Fragile-X: neuropsychological test performance, CGG triplet repeat lengths, and hippocampal volumes.

P Jäkälä, T Hänninen, M Ryynänen, M Laakso, K Partanen, A Mannermaa, and H Soininen

Department of Neuroscience and Neurology, University Hospital and University of Kuopio, Finland. pekka.jakala@uku.fi

Find articles by Jäkälä, P. in: PubMed | Google Scholar

Department of Neuroscience and Neurology, University Hospital and University of Kuopio, Finland. pekka.jakala@uku.fi

Find articles by Hänninen, T. in: PubMed | Google Scholar

Department of Neuroscience and Neurology, University Hospital and University of Kuopio, Finland. pekka.jakala@uku.fi

Find articles by Ryynänen, M. in: PubMed | Google Scholar

Department of Neuroscience and Neurology, University Hospital and University of Kuopio, Finland. pekka.jakala@uku.fi

Find articles by Laakso, M. in: PubMed | Google Scholar

Department of Neuroscience and Neurology, University Hospital and University of Kuopio, Finland. pekka.jakala@uku.fi

Find articles by Partanen, K. in: PubMed | Google Scholar

Department of Neuroscience and Neurology, University Hospital and University of Kuopio, Finland. pekka.jakala@uku.fi

Find articles by Mannermaa, A. in: PubMed | Google Scholar

Department of Neuroscience and Neurology, University Hospital and University of Kuopio, Finland. pekka.jakala@uku.fi

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Published July 15, 1997 - More info

Published in Volume 100, Issue 2 on July 15, 1997
J Clin Invest. 1997;100(2):331–338. https://doi.org/10.1172/JCI119538.
© 1997 The American Society for Clinical Investigation
Published July 15, 1997 - Version history
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Abstract

We compared cognitive performance and hippocampal volumes using magnetic resonance imaging (MRI) in adult fragile-X [fra(X)] males and females with either premutation (pM) or full mutation (fM) (n = 10 in all groups). Cognitive performance of fM males in the Wechsler Adult Intelligence Scale-Revised was worse than that of pM males, and the deficits in fM females were qualitatively similar, but less severe. In a visual memory test, both fM groups were impaired. In a list learning test, fM males were impaired in the learning phase and in delayed recognition. In a logical memory test, fM males and females were not significantly different from pM subjects. Hippocampal volumes normalized for intracranial or brain area did not significantly differ between fM and pM groups. However, positive correlations between left normalized hippocampal volumes and performance in many delayed memory tests observed in pM subjects were absent in fM subjects. Furthermore, in > 50% of the fM subjects, nonspecific changes, such as enlargement of ventricles and perivascular spaces, focal hyperintensities in temporal pole white matter, and/or subjectively assessed atypical appearance of hippocampal morphology, were observed in MRI. The data suggest minor abnormalities in temporal lobe structures in adult fra(X) subjects with fM.

Version history
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