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Substantia nigra hyperechogenicity in hypokinetic Huntington’s disease patients

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An Erratum to this article was published on 12 February 2015

Abstract

Substantia nigra (SN) hyperechogenicity can be detected by transcranial sonography (TCS) to assist the early diagnosis of idiopathic Parkinson’s disease (IPD). This study prospectively investigated whether SN hyperechogenicity is also present in Huntington’s disease (HD) patients with symptoms of hypokinesia and/or rigidity. All patients recruited to the study (n = 15) were characterised by hypokinesia and/or rigidity while nine of these patients also displayed chorea and/or dystonia. The control group included 15 individuals. Clinical examination was documented using the Unified Huntington’s Disease Rating Scale (UHDRS). TCS examination revealed SN hyperechogenicity in 14/15 (93.3 %) patients (9/14 unilateral, 5/14 bilateral). Hyperechogenicity of the caudate and lentiform nuclei (CN, LN) was less frequent (CN: 80 % total, LN: 53.3 % total). This is the first study to assess SN hyperechogenicity in hypokinetic HD patients. Assuming that the primary sites of pathology in IPD and HD are the SN and the striatum, respectively, our observations suggest a functional impairment of the nigrostriatal system in HD, an effect that is potentially independent of the primarily-affected basal ganglia nucleus.

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Acknowledgments

The authors wish to thank the European Huntington’s Disease network (EHDN), in particular Katrin Barth, for technical support. This study was funded by the EHDN. Further they would like to thank GE for providing the ultrasound system. The authors thank Dr. Sandra Dieni for helpful comments on the manuscript.

Conflicts of interest

On behalf of all authors, the corresponding authors state that there is no conflict of interest.

Ethical standard

This study was performed in accordance with the ethical standards.

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    Authors and Affiliations

    1. Department of Neurology, University Hospital Freiburg, Breisacher Strasse 64, 79106, Freiburg, Germany

      Johann Lambeck, Wolf-Dirk Niesen, Reinhard Matthias, Cornelius Weiller & Zucker Birgit

    2. Huntington Center, Isar-Amper-Klinikum, Klinik Taufkirchen, 84416, Taufkirchen (Vils), Germany

      Dose Matthias

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    1. Johann Lambeck
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    2. Wolf-Dirk Niesen
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    3. Reinhard Matthias
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    4. Cornelius Weiller
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    5. Dose Matthias
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    6. Zucker Birgit
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    Corresponding authors

    Correspondence to Wolf-Dirk Niesen or Zucker Birgit.

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    J. Lambeck and W.-D. Niesen contributed equally.

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    Lambeck, J., Niesen, WD., Matthias, R. et al. Substantia nigra hyperechogenicity in hypokinetic Huntington’s disease patients. J Neurol 262, 711–717 (2015). https://doi.org/10.1007/s00415-014-7587-1

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    • DOI: https://doi.org/10.1007/s00415-014-7587-1

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