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Estela Camara

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4 papers

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YNICL Journal 2025 Journal Article

Mapping iron content and white matter integrity in the anterior thalamic radiations across Huntington’s disease stages

Montserrat Domingo-Ayllón
Clara Garcia-Gorro
Nadia Rodriguez-Dechicha
Irene Vaquer
Matilde Calopa
Ruth de Diego-Balaguer
Estela Camara

Huntington's disease (HD) is characterized by progressive neurodegeneration, often accompanied by disrupted iron regulation and altered white matter (WM) integrity. This study investigates iron content and microstructural changes in the anterior thalamic radiations (ATR) across different HD stages. Thirty-one gene carriers and twenty-four controls underwent neuropsychological assessment and 3 T-MRI scanning, including relaxometry and diffusion tensor imaging (DTI) sequences to assess iron content and WM microstructure. ATR changes were examined using average and along-the-tract analyses, with ANOVA and post-hoc Tukey tests to identify group differences and Spearman correlations to evaluate clinical associations. Machine-learning models were applied to assess the potential of MRI metrics as diagnostic biomarkers for HD, focusing on disease stage differentiation and presymptomatic detection. Premanifest individuals exhibited increased iron content and enhanced WM integrity bilaterally, while manifest patients maintained elevated left ATR iron levels alongside bilateral WM degeneration. Both ATRs contribute to the clinical manifestations of HD, including cognitive impairment and neuropsychiatric disturbances. Both along-the-tract relaxometry and DTI metrics emerged as promising biomarkers for distinguishing HD subgroups and identifying presymptomatic individuals. These findings highlight the interplay between iron dysregulation and WM disruption in HD, offering potential pathways for early diagnosis and targeted therapeutic strategies.

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YNICL Journal 2025 Journal Article

Striato-cortical connectivity patterns predict clinical profiles in Huntington’s disease

Audrey E. De Paepe
Vasiliki Bikou
Eylül Turan
Alexis Pérez-Bellido
Clara Garcia-Gorro
Nadia Rodriguez-Dechicha
Irene Vaquer
Matilde Calopa

BACKGROUND: Huntington's disease is an inherited neurodegenerative disorder affecting striato-cortical circuits, with significant heterogeneity in the severity and progression of symptoms and neurodegenerative patterns. OBJECTIVES: To identify how distinct functional striato-cortical connectivity signatures may predict clinical profiles in Huntington's disease. METHODS: Thirty-eight Huntington's disease gene expansion carriers underwent cross-sectional motor, cognitive, and behavioral assessments and multimodal MRI. Principal component analysis was employed to characterize Huntington's disease clinical profiles. Next, seed-based whole-brain functional connectivity maps were derived for three basal ganglia seeds (caudate nucleus, putamen, nucleus accumbens) to delineate cortico-striatal connections. Multiple linear regressions assessed relationships between resulting clinical profiles and seed-based resting-state functional connectivity maps. Finally, basal ganglia gray matter volumes were examined in relation to clinical profiles and connectivity. RESULTS: Principal component analysis identified two main clinical profiles in Huntington's disease: motor-cognitive and behavioral. Multiple linear regression models revealed distinct functional neural signatures associated with each profile. Motor-cognitive symptoms related with a divergent connectivity pattern, specifically decreased connectivity between the caudate and putamen with executive and premotor areas, in contrast to increased connectivity between the ventral nucleus accumbens and executive network regions. Meanwhile, the behavioral profile was linked to decreased connectivity in limbic networks. Basal ganglia atrophy was associated with increased nucleus accumbens-cortical connectivity as well as motor-cognitive symptom severity. CONCLUSIONS: Distinct Huntington's disease clinical profiles can be characterized by predominantly motor-cognitive or behavioral disturbances, each related with unique functional and structural brain signatures. This substantiates that striato-cortical circuits exhibit functional interaction and potential reorganization.

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YNICL Journal 2019 Journal Article

Specific patterns of brain alterations underlie distinct clinical profiles in Huntington's disease

Clara Garcia-Gorro
Alberto Llera
Saul Martinez-Horta
Jesus Perez-Perez
Jaime Kulisevsky
Nadia Rodriguez-Dechicha
Irene Vaquer
Susana Subira

Huntington's disease (HD) is a genetic neurodegenerative disease which involves a triad of motor, cognitive and psychiatric disturbances. However, there is great variability in the prominence of each type of symptom across individuals. The neurobiological basis of such variability remains poorly understood but would be crucial for better tailored treatments. Multivariate multimodal neuroimaging approaches have been successful in disentangling these profiles in other disorders. Thus we applied for the first time such approach to HD. We studied the relationship between HD symptom domains and multimodal measures sensitive to grey and white matter structural alterations. Forty-three HD gene carriers (23 manifest and 20 premanifest individuals) were scanned and underwent behavioural assessments evaluating motor, cognitive and psychiatric domains. We conducted a multimodal analysis integrating different structural neuroimaging modalities measuring grey matter volume, cortical thickness and white matter diffusion indices - fractional anisotropy and radial diffusivity. All neuroimaging measures were entered into a linked independent component analysis in order to obtain multimodal components reflecting common inter-subject variation across imaging modalities. The relationship between multimodal neuroimaging independent components and behavioural measures was analysed using multiple linear regression. We found that cognitive and motor symptoms shared a common neurobiological basis, whereas the psychiatric domain presented a differentiated neural signature. Behavioural measures of different symptom domains correlated with different neuroimaging components, both the brain regions involved and the neuroimaging modalities most prominently associated with each type of symptom showing differences. More severe cognitive and motor signs together were associated with a multimodal component consisting in a pattern of reduced grey matter, cortical thickness and white matter integrity in cognitive and motor related networks. In contrast, depressive symptoms were associated with a component mainly characterised by reduced cortical thickness pattern in limbic and paralimbic regions. In conclusion, using a multivariate multimodal approach we were able to disentangle the neurobiological substrates of two distinct symptom profiles in HD: one characterised by cognitive and motor features dissociated from a psychiatric profile. These results open a new view on a disease classically considered as a uniform entity and initiates a new avenue for further research considering these qualitative individual differences.

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YNICL Journal 2019 Journal Article

White matter cortico-striatal tracts predict apathy subtypes in Huntington's disease

Audrey E. De Paepe
Joanna Sierpowska
Clara Garcia-Gorro
Saül Martinez-Horta
Jesus Perez-Perez
Jaime Kulisevsky
Nadia Rodriguez-Dechicha
Irene Vaquer

BACKGROUND: Apathy is the neuropsychiatric syndrome that correlates most highly with Huntington's disease progression, and, like early patterns of neurodegeneration, is associated with lesions to cortico-striatal connections. However, due to its multidimensional nature and elusive etiology, treatment options are limited. OBJECTIVES: To disentangle underlying white matter microstructural correlates across the apathy spectrum in Huntington's disease. METHODS: Forty-six Huntington's disease individuals (premanifest (N = 22) and manifest (N = 24)) and 35 healthy controls were scanned at 3-tesla and underwent apathy evaluation using the short-Problem Behavior Assessment and short-Lille Apathy Rating Scale, with the latter being characterized into three apathy domains, namely emotional, cognitive, and auto-activation deficit. Diffusion tensor imaging was used to study whether individual differences in specific cortico-striatal tracts predicted global apathy and its subdomains. RESULTS: We elucidate that apathy profiles may develop along differential timelines, with the auto-activation deficit domain manifesting prior to motor onset. Furthermore, diffusion tensor imaging revealed that inter-individual variability in the disruption of discrete cortico-striatal tracts might explain the heterogeneous severity of apathy profiles. Specifically, higher levels of auto-activation deficit symptoms significantly correlated with increased mean diffusivity in the right uncinate fasciculus. Conversely, those with severe cognitive apathy demonstrated increased mean diffusivity in the right frontostriatal tract and left dorsolateral prefrontal cortex to caudate nucleus tract. CONCLUSIONS: The current study provides evidence that white matter correlates associated with emotional, cognitive, and auto-activation subtypes may elucidate the heterogeneous nature of apathy in Huntington's disease, as such opening a door for individualized pharmacological management of apathy as a multidimensional syndrome in other neurodegenerative disorders.

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