SPG11 is associated with BMI changes and hypothalamic damage
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 CN...
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| Main Authors: | , , , , |
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| Format: | Online |
| Language: | Portuguese |
| Published: |
Universidade Estadual de Campinas
2019
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| Subjects: | |
| Online Access: | https://econtents.sbu.unicamp.br/eventos/index.php/pibic/article/view/2200 |
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| Summary: | 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. |
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| ISSN: | 2596-1969 |
