Abstract #2981

Quantitative characterization of brain tissue damage in Huntington Disease using T1 normative atlas

Maria Eugenia Caligiuri¹, Maria Celeste Bonacci¹, Veronica Ravano^2,3,4, Gian Franco Piredda², Domenico Zacà⁵, Anaïs Burrus², Bénédicte Maréchal^2,3,4, Tom Hilbert^2,3,4, Tobias Kober^2,3,4, Ferdinando Squitieri^6,7, and Umberto Sabatini^1,8

¹Neuroscience Research Center, Department of Medical and Surgical Sciences, Università degli Studi Magna Graecia di Catanzaro, Catanzaro, Italy, ²Advanced Clinical Imaging Technology, Siemens Healthineers International AG, Lausanne, Switzerland, ³Department of Radiology, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland, ⁴LTS5, École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland, ⁵Siemens Healthcare srl, Milan, Italy, ⁶Centro Malattie Neurologiche Rare, Fondazione Lega Italiana Ricerca Huntington (LIRH), Rome, Italy, ⁷Huntington and Rare Diseases Unit, Fondazione IRCCS Casa Sollievo della Sofferenza (CSS) Hospital, San Giovanni Rotondo, Italy, ⁸Neuroradiology Unit, AOU Renato Dulbecco, Catanzaro, Italy

Synopsis

Keywords: Other Neurodegeneration, Rare disease, Relaxometry, White matter, Quantitative Imaging

Motivation: Quantification of brain tissue damage in Huntington disease (HD) is essential to design therapeutic strategies to prevent progression of neurodegeneration.

Goal(s): To compare frequency and extent of deviations from normative ranges in pediatric-onset (POHD) and adult-onset HD (AOHD).

Approach: Z-score maps of T1 relaxometry were estimated using a normative atlas accounting for age and sex. The distribution of abnormal voxels was compared between the two HD forms.

Results: Striatal regions were severely damaged in both forms, but to a larger extent in POHD. POHD also showed higher z-scores in thalamus, midbrain, occipital and frontotemporal WM, and cerebellum, relatively spared in AOHD.

Impact: Identification of specific regions of quantitative T1 abnormalities in different forms of Huntington disease may provide precious insights into pathophysiological mechanisms driving the different clinical presentations, as well as a promising biomarker to non-invasively monitor response to novel therapeutic strategies.

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