Abstract
IntroductionThe volume of the striatal structures has been associated with disease progression in individuals with Huntington's disease (HD) from North America, Europe, and Australia. However, it is not known whether the gray matter (GM) volume in the striatum is also sensitive in differentiating vulnerability from disease manifestation in HD families from a South‐American region known to have high incidence of the disease. In addition, the association of enlarged brain perivascular spaces (PVS) with cognitive, behavioral, and motor symptoms of HD is unknown.Materials and MethodsWe have analyzed neuroimaging indicators of global atrophy, PVS burden, and GM tissue volume in the basal ganglia and thalami, in relation to behavioral, motor, and cognitive scores, in 15 HD patients with overt disease manifestation and 14 first‐degree relatives not genetically tested, which represent a vulnerable group, from the region of Magdalena, Colombia.ResultsPoor fluid intelligence as per the Raven's Standard Progressive Matrices was associated with global brain atrophy (p = 0.002) and PVS burden (p ≤ 0.02) in HD patients, where the GM volume in all subcortical structures, with the exception of the right globus pallidus, was associated with motor or cognitive scores. Only the GM volume in the right putamen was associated with envy and MOCA scores (p = 0.008 and 0.015 respectively) in first‐degree relatives.ConclusionStriatal GM volume, global brain atrophy and PVS burden may serve as differential indicators of disease manifestation in HD. The Raven's Standard Progressive Matrices could be a cognitive test worth to consider in the differentiation of vulnerability versus overt disease in HD.
Highlights
The volume of the striatal structures has been associated with disease progression in individuals with Huntington's disease (HD) from North America, Europe, and Australia
A formal diagnosis is made when motor symptoms that are typical for HD appear in an individual who has a positive family history of the disease confirmed by gene testing (Tabrizi et al, 2009)
We evaluate, for the first time, whether perivascular spaces (PVS) can be considered a neuroimaging marker that differentiates vulnerability versus overt HD, and their association with cognitive, functional, and behavioral indicators in HD patients and their first‐degree relatives
Summary
Huntington's disease (HD) is a neurodegenerative disorder caused by an expanded Cytosine, Adenine, and Guanine (CAG) repeat on chromosome 4 (Ciarmiello et al, 2017). HD is characterized by a triad of symptoms including motor, cognitive, and behavioral abnormalities (Baez et al, 2016), and has been associated with neuronal loss within corticostriatal circuits, reflected in brain structural changes visible in magnetic resonance imaging (MRI) (Georgiou‐Karistianis et al, 2013; Kim & Fung, 2014; Lawrence, Sahakian, & Robbins, 1998; McColgan & Tabrizi, 2018) The sensitivity of these volumetric changes in relation to cognitive and social performance, to differentiate manifest HD patients from first‐degree relatives who represent a vulnerable group, would benefit from further documentation, especially across a wide lifespan trajectory and ethnic groups. As cross‐sectional cognitive studies have not found a strong effect of total PVS burden on general cognition (Huijts et al, 2014; Hurford et al, 2014; Zhu et al, 2010), we did not expect an association of PVS burden with functional, cognitive, or behavioral symptoms of HD
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