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Cerebral metabolic and structural alterations in hereditary spastic paraplegia with thin corpus callosum assessed by MRS and DTI

  • Diagnostic Neuroradiology
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Abstract

Introduction

Hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) is a complicated form of autosomal-recessive hereditary spastic paraplegia. Characteristic clinical features comprise progressive spastic gait, cognitive impairment, and ataxia. Diagnostic MRI findings include thinning of the corpus callosum and non-progressive white matter (WM) alterations.

Methods

To study the extent of axonal involvement, we performed localized proton magnetic resonance spectroscopy (MRS) of the cerebral WM and cortical grey matter (GM) in a patient with HSP-TCC at 20 and 25 years of age. The second investigation included diffusion tensor imaging (DTI).

Results

While MRS of the GM was normal, affected WM was characterized by major metabolic alterations such as reduced concentrations of N-acetylaspartate and N-acetylaspartyl-glutamate, creatine and phosphocreatine, and choline-containing compounds as well as elevated levels of myo-inositol. These abnormalities showed progression over a period of 5 years. DTI revealed increased mean diffusivity as well as reduced fractional anisotropy in periventricular WM. The metabolic and structural findings are consistent with progressive neuroaxonal loss in the WM accompanied by astrocytic proliferation—histopathological changes known to occur in HSP-TCC.

Conclusion

Our results are in agreement with the hypothesis that the primary pathological process in HSP-TCC affects the axon, possibly due to impaired axonal trafficking.

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Acknowledgements

We acknowledge the grant support of the Volkswagen Foundation of the Federal State of Lower Saxony. S.D.-K. was supported by the German Bundesministerium für Bildung und Forschung (01GM0309).

Conflict of interest statement

We declare that we have no conflict of interest.

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Authors and Affiliations

  1. Department of Pediatrics and Pediatric Neurology, Faculty of Medicine, Georg August University, Robert-Koch-Str. 40, 37075, Göttingen, Germany

    Steffi Dreha-Kulaczewski, Jutta Gärtner & Knut Brockmann

  2. MR Research in Neurology and Psychiatry, Georg August University, Göttingen, Germany

    Steffi Dreha-Kulaczewski, Peter Dechent & Gunther Helms

  3. Biomedizinische NMR Forschungs GmbH am Max-Planck-Institut für biophysikalische Chemie, Göttingen, Germany

    Jens Frahm

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  1. Steffi Dreha-Kulaczewski
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  2. Peter Dechent
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  3. Gunther Helms
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  4. Jens Frahm
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  5. Jutta Gärtner
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  6. Knut Brockmann
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Correspondence to Knut Brockmann.

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Dreha-Kulaczewski, S., Dechent, P., Helms, G. et al. Cerebral metabolic and structural alterations in hereditary spastic paraplegia with thin corpus callosum assessed by MRS and DTI. Neuroradiology 48, 893–898 (2006). https://doi.org/10.1007/s00234-006-0148-2

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  • DOI: https://doi.org/10.1007/s00234-006-0148-2

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