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Gray matter alterations in patients with Huntington Disease and Hintington-Like disease

Grant number: 20/04032-8
Support type:Scholarships in Brazil - Scientific Initiation
Effective date (Start): May 01, 2020
Effective date (End): April 30, 2021
Field of knowledge:Health Sciences - Medicine
Principal Investigator:Fernando Cendes
Grantee:Thierry Kaue Alves Silva Souza
Home Institution: Faculdade de Ciências Médicas (FCM). Universidade Estadual de Campinas (UNICAMP). Campinas , SP, Brazil
Associated research grant:13/07559-3 - BRAINN - The Brazilian Institute of Neuroscience and Neurotechnology, AP.CEPID


Huntington's disease (HD) is an autosomal dominant neurodegenerative disease characterized by cognitive-behavioral changes associated with involuntary movements, predominantly chorea. Huntington's disease is caused by a CAG repeat in the IT 15 gene, located on chromosome 4p16.3, which is responsible for the synthesis of the huntingtin protein. About 1% of patients with symptoms compatible with HD do not present the typical mutation. These patients end up diagnosed with any of the multiple HD-like syndromes, including Huntington's Disease (HDL) (with subtypes I to IV), Dentatorubral pallidoluysian atrophy (DRPLA), Neuroferritinopathy, Benign Hereditary Chorea, Chorea-acanthocytosis, McLead's syndrome and Wilson's disease.Despite the considerable knowledge about HDL genetics and clinic, few studies have evaluated and compared volumetric and clinical brain changes between HD and HDL; in addition, there is little research that analyzed characteristics of the brain surface and basal ganglia between the two groups. In view of this, this study seeks to correlate these factors and to look for patterns that justify the difference and similarities between diseases.Although considered a rare disease, Huntington Like Disease is characterized by symptoms that can be progressively debilitating. A better understanding of the involvement of cortical and subcortical structures in these patients can help not only better understand the natural history of the disease, but potentially identify a biomarker that can become a target for future interventions and treatments.For the analysis of images we will use 3T magnetic resonance images, weighted in T1 and echo gradient with isotropic voxels of 1mm acquired in the sagittal plane (1mm thick; flip angle angle = 8 °; Repetition time = 7.1; Echo time = 3.2; matrix = 240x240; and Field of View or FOV = 240x240) of patients followed up at the Huntington's Disease and Neurogenetics outpatient clinic at UNICAMP. We intend to include 12 patients with HDL, 12 patients with HD and 24 controls. We will perform an analysis of the volume of gray matter and the cortical surface of patients and controls stored in the LNI Database (Laboratory of Neuroimaging, HC, UNICAMP). The analyzes will be performed with the CAT 12 software (Computational Anatomy Toolbox) ( with the SPM 12 ( and MATLAB2017. (AU)