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Progressive spinal cord atrophy in manifest and premanifest Huntington’s disease
  1. Weike Wilhelms1,
  2. Barbara Bellenberg1,
  3. Odo Köster1,
  4. Florian Weiler2,
  5. Rainer Hoffmann3,
  6. Ralf Gold3,
  7. Carsten Saft3,
  8. Carsten Lukas1
  1. 1 Department of Diagnostic and Interventional Radiology and Nuclear Medicine, St. Josef Hospital, Ruhr-University Bochum, Bochum, Germany
  2. 2 Fraunhofer Institute for Medical Image Computing MEVIS, Bremen, Germany
  3. 3 Department of Neurology, St. Josef Hospital, Ruhr University, Bochum, Germany
  1. Correspondence to Dr Carsten Lukas, Department of Diagnostic and Interventional Radiology and Nuclear Medicine, St. Josef Hospital, Ruhr-University Bochum, Gudrunstr. 56, 44791 Bochum, Germany; carsten.lukas{at}rub.de

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Introduction

Increasing evidence suggests a multisystem character of the neuropathology in Huntington’s disease (HD) with different areas of involvement, such as the brainstem, cerebellum or regional cortical areas.1 As recently shown by Mühlau et al, the spinal cord (SC) might be an additional site involved by neurodegenerative processes in HD.2 As such the diverse locations of neuronal degeneration in relevant functional central nervous system (CNS) pathways have contributed to a better understanding of the diversified clinical scene including clinical symptoms such as dysfunctions of two-point discrimination, vibratory sensation and sensation of temperature and pain. However, it has not been studied so far if such degenerative processes can be detected in the preclinical stages of HD, or whether there is a dynamic change of SC atrophy over time. The current study therefore aims at the confirmation of SC atrophy in manifest HD, as well as at the prevalence and longitudinal course SC atrophy in the early premanifest stages of disease.

Subjects and methods

We examined 17 patients with manifest HD (mHD, classified according to the Unified Huntington’s Disease Rating Scale (UHDRS)),3 27 patients with genetically proven premanifest HD (pmHD) and 30 healthy subjects. Subgroups were matched for age and gender. Clinical and paraclinical examinations including UHDRS, tapping task, pegboard tests, CAG repeat length and the disease burden score (DBS) were assessed for all HD subjects. For pmHD, the estimated time to disease onset (years to onset; YTO) was surveyed and a follow-up examination (MRI and clinical assessment, n=23 patients) was performed after approximately 23 months. Refer to online supplementary material for further details. Written informed consent was …

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