Cerebellar structural abnormalities in Amyotrophic Lateral Sclerosis stratified for C9orf72 genotypes

• Grant number: 17/25752-6
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: April 01, 2018
• End date: September 30, 2018
• Field of knowledge: Health Sciences - Medicine - Medical Clinics
• Principal Investigator: Marcondes Cavalcante Franca Junior
• Grantee: Paula Nocito Rebello
• Host Institution: Faculdade de Ciências Médicas (FCM). Universidade Estadual de Campinas (UNICAMP). Campinas , SP, Brazil

Abstract

Amyotrophic Lateral Sclerosis is the third most frequent neurodegenerative disorder in adults and may have a familial or sporadic origin. This disease affects the motor neurons of the brain and spinal cord, causing progressive and irreversible motor paralysis. Death usually occurs in approximately 3 to 5 years after diagnosis due to respiratory insufficiency and yet, there is no prevention or treatment that effectively modifies the course of the disease. Regarding genetics, several genes related to ALS have been identified, and the most commonly mutated is C9orf72. In terms of imaging findings, patients with ALS have already been analyzed in relation to the volumetry and electrical activity of the brain and cerebellum (a very affected region in this disease). The cerebellum exhibits specificity in the topography of its connectivity with other regions of the nervous system, which explains its relation with motor, cognitive, autonomic and affective functions. Thus, it is important to correlate the cerebellar morphology of c9ALS patients with the motor paralysis and cognitive decline that individuals express. Although there are reports describing the cerebellum morphology of ALS patients and the brain of c9ALS patients, studies have not yet been done in order to analyze the cerebellar volumetry of patients with c9ALS. Therefore, the main goal of this study is to compare patients with mutation in C9orf72 and individuals with sporadic ALS, based on the correlation between clinical parameters observed (age of onset of symptoms, duration of disease, presence of fronto-temporal dementia, cognitive analysis and motor analysis) and the cerebellar measurements obtained with the CERES tool. (AU)