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 |
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Universidade Estadual de Campinas
2019
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| Online Access: | https://econtents.sbu.unicamp.br/eventos/index.php/pibic/article/view/2200 |
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| _version_ | 1864359012952178688 |
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| author | Hernández, Ana Junior, Marcondes Franca Faber, Ingrid Martinez, Alberto Rezende, Thiago |
| author_facet | Hernández, Ana Junior, Marcondes Franca Faber, Ingrid Martinez, Alberto Rezende, Thiago |
| author_sort | Hernández, Ana |
| collection | Portal de Eventos Científicos da UNICAMP |
| container_reference | Revista dos Trabalhos de Iniciação Científica da UNICAMP; n. 27 (2019): Congresso de Iniciação Científica UNICAMP; 1-1 |
| description | 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. |
| first_indexed | 2025-10-08T13:56:41Z |
| format | Online |
| id | ojs-article-2200 |
| institution | Universidade Estadual de Campinas |
| issn | 2596-1969 |
| language | por |
| last_indexed | 2025-10-08T13:56:41Z |
| publishDate | 2019 |
| publisher | Universidade Estadual de Campinas |
| record_format | ojs |
| spelling | ojs-article-22002025-09-26T14:39:16Z SPG11 is associated with BMI changes and hypothalamic damage Hernández, Ana Junior, Marcondes Franca Faber, Ingrid Martinez, Alberto Rezende, Thiago SPG11 BMI Neuroimaging 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. Universidade Estadual de Campinas 2019-01-09 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion Artigo de convidado application/pdf https://econtents.sbu.unicamp.br/eventos/index.php/pibic/article/view/2200 10.20396/revpibic2720192200 Revista dos Trabalhos de Iniciação Científica da UNICAMP; n. 27 (2019): Congresso de Iniciação Científica UNICAMP; 1-1 2596-1969 por https://econtents.sbu.unicamp.br/eventos/index.php/pibic/article/view/2200/2255 Copyright (c) 2019 Revista dos Trabalhos de Iniciação Científica da UNICAMP http://creativecommons.org/licenses/by/4.0 |
| spellingShingle | Hernández, Ana Junior, Marcondes Franca Faber, Ingrid Martinez, Alberto Rezende, Thiago SPG11 BMI Neuroimaging SPG11 is associated with BMI changes and hypothalamic damage |
| title | SPG11 is associated with BMI changes and hypothalamic damage |
| title_full | SPG11 is associated with BMI changes and hypothalamic damage |
| title_fullStr | SPG11 is associated with BMI changes and hypothalamic damage |
| title_full_unstemmed | SPG11 is associated with BMI changes and hypothalamic damage |
| title_short | SPG11 is associated with BMI changes and hypothalamic damage |
| title_sort | spg11 is associated with bmi changes and hypothalamic damage |
| topic | SPG11 BMI Neuroimaging |
| url | https://econtents.sbu.unicamp.br/eventos/index.php/pibic/article/view/2200 |
| work_keys_str_mv | AT hernandezana spg11isassociatedwithbmichangesandhypothalamicdamage AT juniormarcondesfranca spg11isassociatedwithbmichangesandhypothalamicdamage AT faberingrid spg11isassociatedwithbmichangesandhypothalamicdamage AT martinezalberto spg11isassociatedwithbmichangesandhypothalamicdamage AT rezendethiago spg11isassociatedwithbmichangesandhypothalamicdamage |
