Towards Standardizing Nomenclature in Huntington's Disease Research

Abstract

The field of Huntington's disease research covers many different scientific disciplines, from molecular biology all the way through to clinical practice, and as our understanding of the disease has progressed over the decades, a great deal of different terminology has accrued. The field is also renowned for its collaborative spirit and use of standardized reagents, assays, datasets, models, and clinical measures, so the use of standardized terms is especially important. We have set out to determine, through a consensus exercise involving basic and clinical scientists working in the field, the most appropriate language to use across disciplines. Nominally, this article will serve as the style guide for the Journal of Huntington's Disease (JHD), the only journal devoted exclusively to HD, and we lay out the preferred and standardized terminology and nomenclature for use in JHD publications. However, we hope that this article will also serve as a useful resource to the HD research community at large and that these recommended naming conventions will be adopted widely.

Keywords: HTT; Huntington disease; Nomenclature; mHTT; neuroanatomy; neuropathology; preclinical models.

Fig. 1

The HD-Integrated Staging System (HD-ISS): Cumulative staging framework and landmarks. Graphical representation of the temporal sequence of Stage progression and the associated landmark assessments that define Stage entry. (Note: time not to scale). From accompanying editorial: “Refining the Language of Huntington’s Disease Progression with the Huntington disease integrated staging system (HD-ISS)”.