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Basal ganglia volume and clinical correlates in ‘preclinical’ Huntington’s disease

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Abstract

Objective

To establish differences in basal ganglia and thalamic volume between preclinical carriers and non-carriers of the Huntington’s disease (HD) gene and to link the volume to motor, cognitive and behavioural characteristics in carriers.

Methods

Sixteen HD gene carriers without overt clinical motor signs and 14 non-gene carriers underwent clinical evaluation and a MRI scan. Volumes of the caudate nucleus, putamen, gobus pallidus and thalamus were measured using T1-weighted MR images. Motor, cognitive and behavioural functioning was assessed using the Unified Huntington’s Disease Rating Scale (UHDRS), cognitive testing and the Beck Depression Inventory (BDI-II).

Results

Volumes of the caudate nucleus, putamen and globus pallidus were significantly smaller in carriers than in non-carriers while no differences between groups were found on clinical evaluation. In gene carriers smaller globus pallidus volume was associated with more motor abnormalities. A smaller putamen volume correlated significantly with worse psychomotor function on the Symbol Digit Modalities Task and the Trail Making Test B.

Conclusions

In line with previous research we demonstrated that basal ganglia abnormalities precede overt disease manifestation of HD. Besides we showed that smaller basal ganglia volumes are related to subtle motor abnormalities and worse psychomotor performance in gene carriers without clinical diagnosis. Motor and psychomotor measures may be suitable clinical markers in future neuroprotective trials when combined with volumetric imaging.

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Authors and Affiliations

  1. Dept. of Neurology, Leiden University Medical Center, 9600, 2300 RC, Leiden, The Netherlands

    Caroline K. Jurgens MSc, Lotte van de Wiel MSc, Yvette M. Grimbergen MD, Marie-Noëlle W. Witjes-Ané PhD, Huub A. M. Middelkoop PhD & Raymund A. C. Roos MD, PhD

  2. Dept. of Radiology, Leiden University Medical Center, 9600, 2300 RC, Leiden, The Netherlands

    Ad C. G. M. van Es MSc & Jeroen van der Grond PhD

  3. Neuropsychology Unit of the Department of Psychology, Leiden University, 9555, 2300 RB, Leiden, The Netherlands

    Lotte van de Wiel MSc & Huub A. M. Middelkoop PhD

Authors
  1. Caroline K. Jurgens MSc
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  2. Lotte van de Wiel MSc
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  3. Ad C. G. M. van Es MSc
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Correspondence to Caroline K. Jurgens MSc.

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Jurgens, C.K., van de Wiel, L., van Es, A.C.G.M. et al. Basal ganglia volume and clinical correlates in ‘preclinical’ Huntington’s disease. J Neurol 255, 1785–1791 (2008). https://doi.org/10.1007/s00415-008-0050-4

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  • DOI: https://doi.org/10.1007/s00415-008-0050-4

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