Palavras-chave
BMI
Neuroimaging
Como Citar
Resumo
SPG11 mutations are the most relevant cause of autosomal recessive Hereditary Spastic Paraplegia(HSP). Patients present with marked weight gain, which contrasts from caquexia generally observed in other neurodegenerative disorders. We have chosen to evaluate the hypothalamus as it is an important CNS metabolic control center. We used MRI, and manually segmented the hypothalamus in patients(n=20) and healthy controls(n=20). Also, we collected BMI data and compared SPG11 patients(n=20) against patients with Friedreich Ataxia (n=20), another neurodegenerative disease model. We found significantly higher BMI in the SPG11 group(p=0.034). Also, the SPG11 group had hypothalamic atrophy when compared to controls(p=0.030).This reinforces our hypothesis that loss of Spatacsin function might be related to abnormal metabolic control in SPG11.
Referências
M.C. Kiernan, S. Vucic, B.C. Cheah, et al. Amyotrophic lateral sclerosis. Lancet 2011; 377 , pp. 942–955.
Vercruysse, P., et al. Alterations in the hypothalamic melanocortin pathway in amyotrophic lateral sclerosis. Brain 2016; 139(4): 1106-1122.
Bouteloup, C., et al. Hypermetabolism in ALS patients: an early and persistent phenomenon. Journal of Neurology 2009; 256(8): 1236-1242.
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