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25/06/2019

The different clinical profiles of Huntington’s disease are associated with two specific neural signatures

Researchers from the group Brain Cognition and Plasticity of the Biomedical Research Institute of Bellvitge (IDIBELL) and the Institute of Neurosciences of the University of Barcelona (UB), with the collaboration of Radboud University in the Netherlands , have identified two specific patterns of cerebral disorders underlying two clinical profiles of Huntington’s disease. The study, published in Neuroimage: Clinical, can help develop specific biomarkers and personalized treatments for each profile of this minority illness. The study also involved different hospitals in Barcelona, such as Sant Pau, Bellvitge, Clínic and Mare de Déu de la Mercè, which allowed researchers to investigate with a sample of large patients, a fact of special importance in a minority illness such as Huntington’s disease.

The research, led by doctors Estela Cámara and Ruth de Diego and with the predoctoral researcher Clara García Gorro as the first author, broadens the knowledge about Huntington’s disease. This neurodegenerative genetic disease is characterized by generating motor, cognitive and psychiatric deficits, but there is “a very large symptomatic heterogeneity among patients, so we decided to investigate the neurobiological bases of these differences to see if we could link them to the clinical profiles, “explains the doctor of Diego, researcher ICREA.

For the study, the researchers used a technique of multimodal fusion analysis that allows to combine different types of modalities of images by magnetic resonance. “This type of analysis allows us to integrate the information of the different modalities and thus study the brain and the pattern of neurodegeneration in a more global way, which makes it possible to identify more subtle cerebral alterations,” explains Dr. Camara.

The analysis of the relationship between the symptoms of the disease and the measures of the structural alterations of the white and gray matter allowed the researchers to establish that the cognitive and motor symptoms shared a common neurobiological basis while the psychiatric domain had a signature differentiated neural

“Cognitive and motor symptoms were associated together with a gray matter reduction pattern, the cortical thickness and the integrity of the white substance in brain regions responsible for the execution of movements and the processing of different cognitive functions, such as memory, planning or visual-spatial processing. Depressive symptoms, on the other hand, were associated with a very different pattern, characterized by a lower thickness in the cerebral cortex in regions responsible for the emotional processing typically associated with alterations psychiatric, “adds Dr. García Cap.

These results provide a new vision of a disease traditionally considered as a uniform entity, and promote new lines of research that take into account these individual qualitative differences. “Our results are especially relevant in the context of clinical trials, as they could be used to define specific biomarkers for each symptomatological profile, even before clinical signs appear,” says Dr. Cámara, adding that “in addition In addition, we are opening a door to personalized medicine in Huntington’s disease, as it increases the likelihood of finding individualized treatments aimed at specific cognitive, motor, and psychiatric disorders. ”

Article reference
Garcia-Gorro C, Llera A, Martinez-Horta S, et al. (2019) Specific patterns of brain alterations underlie distinct clinical profiles in Huntington’s disease. NeuroImage: Clinical. In Press, Accepted Manuscript, Available online 15 June 2019.

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