Abstract Details

Title Exploring the relationship between brain atrophy and clinical symptoms in Huntington’s disease

Topic Movement Disorders

Presentation(s) S41 - Imaging in Movement Disorders (4:58 PM-5:09 PM)

Poster/Presentation
Number 009

Background Huntington’s disease (HD) is pathologically characterized by striatal atrophy. However, other regions, such as the globus pallidus, thalamus and hippocampus also undergo degeneration. Less attention has been paid to these structures and their clinical relevance. Motor and nonmotor symptoms related to HD progression might be associated with atrophy of different brain regions.

Objective To determine whether brain regional volumes are associated with HD clinical symptoms.

Design/Methods 18 patients with genetic diagnosis of HD [11 manifest (48.6±10.9 y;3M/8F) and 7 premanifest HD gene carriers (47.3±9.4 y;2M/5F)] and 13 controls (32.4±2.4 y;7M/6F) underwent a brain magnetic resonance imaging (MRI) at 3T with 3D-MPRAGE for volumetric assessment. Segmentation of region of interest (ROIs) was performed using the Freesurfer v5.3.0. Symptoms were assessed using the Problem Behaviors Assessment (PBA), the Unified HD Rating Scale (UHDRS), the Symbol Digit Modalities Test (SDMT), the Verbal Fluency Test (VFT) and the Stroop interference test.

Results Both premanifest HD gene carriers and manifest patients with HD presented a significant decrease in cortical (p=0.001), grey matter (p<0.001) and deep gray matter (DGM) (p<0.001) volumes in comparison with controls. In premanifest HD gene carriers, lower DGM volumes, particularly in thalami and pallidi, were associated with higher CAP score (CAG age product–a proxy for cumulative disease burden), and worse scores in PBA-depression and PBA–irritability/aggression subscales. In manifest patients, atrophy of ROIs such as putamen, pallidum, hippocampus and amygdala was associated with worse motor symptoms as observed in the UHDRS, and worse cognitive performance as evaluated by the SDMT, VFT and Stroop.

Conclusions Our preliminary results suggest that brain atrophy may be an early event in HD, consistent with previously published findings. Decreased volumes in subcortical structures are associated with behavioral symptoms in premanifest HD and correlate with motor and cognitive symptoms in manifest HD. Future studies will explore significant clinical and prognostic relevance.

Authors/Disclosures
Erin Furr-Stimming, MD, FAAN (University of Texas Health Science Center-Houston) PRESENTER	Dr. Furr-Stimming has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Michael J. Fox Foundation. Dr. Furr-Stimming has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Medscape. Dr. Furr-Stimming has received personal compensation in the range of $500-$4,999 for serving as a Consultant for MedPage. Dr. Furr-Stimming has received personal compensation in the range of $500-$4,999 for serving as a Consultant for PTC Therapeutics. Dr. Furr-Stimming has received personal compensation in the range of $500-$4,999 for serving as a Consultant for MedPage. Dr. Furr-Stimming has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Wave Life Sciences. Dr. Furr-Stimming has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Teva Pharmaceuticals. Dr. Furr-Stimming has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for PTC Therapeutics. Dr. Furr-Stimming has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Wave Life Sciences. Dr. Furr-Stimming has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Latus Bio. The institution of Dr. Furr-Stimming has received research support from Roche/Genetech. The institution of Dr. Furr-Stimming has received research support from Uniqure. The institution of Dr. Furr-Stimming has received research support from CHDI. The institution of Dr. Furr-Stimming has received research support from Huntington Study Group/Neurocrine Bioscienes. The institution of Dr. Furr-Stimming has received research support from NIH/University of Iowa. The institution of Dr. Furr-Stimming has received research support from Sage Therapeutics. The institution of Dr. Furr-Stimming has received research support from HDSA. Dr. Furr-Stimming has received publishing royalties from a publication relating to health care. Dr. Furr-Stimming has received publishing royalties from a publication relating to health care. Dr. Furr-Stimming has a non-compensated relationship as a Committee member with AAN UES Committee that is relevant to AAN interests or activities.
Gabriela Colpo	Gabriela Colpo has nothing to disclose.
Natalia Pessoa Rocha	Natalia Pessoa Rocha has nothing to disclose.
	No disclosure on file
	No disclosure on file
	No disclosure on file
Leorah A. Freeman, MD, PhD (Dell Medical School, The University of Texas at Austin)	Dr. Freeman has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Novartis. Dr. Freeman has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Hoffman La-Roche. Dr. Freeman has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Genentech, Inc. Dr. Freeman has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for EMD Serono. Dr. Freeman has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Horizon. Dr. Freeman has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Sanofi. Dr. Freeman has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for TG Therapeutics. Dr. Freeman has received personal compensation in the range of $5,000-$9,999 for serving on a Speakers Bureau for Sanofi-Genzyme. Dr. Freeman has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Texas Neurological Society. Dr. Freeman has received personal compensation in the range of $10,000-$49,999 for serving on a Speakers Bureau for EMD Serono/ Merck. The institution of Dr. Freeman has received research support from Genentech. The institution of Dr. Freeman has received research support from PCORI. The institution of Dr. Freeman has received research support from EMD Serono. The institution of Dr. Freeman has received research support from Sanofi. The institution of Dr. Freeman has received research support from MSAA. The institution of Dr. Freeman has received research support from National Multiple Sclerosis Society.
	No disclosure on file

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