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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 …
Contributors WW: study concept and design, drafting and revising of manuscript, acquisition of data, statistical analysis, analysis and interpretation of data.
BB: acquisition of data, statistical analysis, analysis and interpretation of data, drafting/revising the manuscript for content.
RH: drafting/revising the manuscript for content, contribution of vital tools.
RG: contributed to the design of the study, drafting/revising the manuscript for content.
CS: drafting/revising the manuscript for content, study supervision or co-ordination.
CL: study concept and design, drafting and revising of manuscript, drafting/revising the manuscript for content, study supervision, analysis and interpretation of data.
All authors gave final approval of the version to be published.
Competing interests RG has received honoraria, consultant fees or other support from Baxter, Bayer Schering, Biogen Idec, CLB, Behring, Genzyme, Merck Serono, Novartis, Talecris, Teva and Wyeth. CS reports grants from Teva Endowed Professorship, grants from 'Cure Huntington's Disease Initiative´ (CHDI), grants from Biogen, personal fees from Temmler Pharma GmbH & Co. KG, personal fees from Desitin Arzneimittel GmbH, outside the submitted work; and CS received institutional compensation and/or travel or accommodation payments in the context of the ENROLL-Study (CHDI), Registry-Study of the Euro-HD-Network, in the context of the MitoNet-study, the ACR16-Study (Neurosearch), the AFQ-Study (Novartis), the Selisistat-Studies (Siena Biotech), the PRIDE-HD- and LEGATO-HD-Study (TEVA), the Amaryllis-Study (Pfizer) and in context of the IONIS 443139-CS1 Study. CL has received consulting and speaker's honoraria from BiogenIdec, Bayer Schering, Novartis, Sanofi, Genzyme and TEVA, and has received research scientific grant support from Bayer Schering, TEVA and MerckSerono. He holds an endowed professorship supported by the Novartis Foundation.
Patient consent Obtained.
Ethics approval Ethics Committee of the Medical Faculty Ruhr-University Bochum
Provenance and peer review Not commissioned; externally peer reviewed.