Bariatric surgery as a potential trigger for worsening hereditary spastic paraparesis: Case report
DOI:
https://doi.org/10.17161/rrnmf.v6i1.22493Keywords:
Hereditary Spastic Paraplegia, HSP, triggerAbstract
We report a patient with c.1246C>T (p.R416C) heterozygous variant on the ATL1 gene causing a complicated form of hereditary spastic paraparesis (HSP) who had an early age of onset but had non-progressive disease until a rapid decline at age 57 after bariatric surgery. To our knowledge, there have been no studies or case reports documenting a trigger for clinical worsening in patients with HSP.
Metrics
Downloads
References
Zhu PP, Soderblom C, Tao-Cheng JH, Stadler J, Blackstone C. SPG3A protein atlastin-1 is enriched in growth cones and promotes axon elongation during neuronal development. Human Molecular Genetics. 2006;15(8):1343-1353. doi:10.1093/hmg/ddl054
Hedera P. Hereditary Spastic Paraplegia Overview. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews®. University of Washington, Seattle; 2021. Accessed September 16, 2021. http://www.ncbi.nlm.nih.gov/books/NBK1509/
Soderblom C, Blackstone C. Traffic accidents: Molecular genetic insights into the pathogenesis of the hereditary spastic paraplegias. Pharmacology & Therapeutics. 2006;109(1):42-56. doi:10.1016/j.pharmthera.2005.06.001
Crosby AH, Proukakis C. Is the Transportation Highway the Right Road for Hereditary Spastic Paraplegia? The American Journal of Human Genetics. 2002;71(5):1009-1016. doi:10.1086/344206
Klebe S, Stevanin G, Depienne C. Clinical and genetic heterogeneity in hereditary spastic paraplegias: From SPG1 to SPG72 and still counting. Revue Neurologique. 2015;171(6):505-530. doi:10.1016/j.neurol.2015.02.017
Dürr A, Camuzat A, Colin E, et al. Atlastin1 Mutations Are Frequent in Young-Onset Autosomal Dominant Spastic Paraplegia. Archives of Neurology. 2004;61(12):1867-1872. doi:10.1001/archneur.61.12.1867
Dong EL, Wang C, Wu S, et al. Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China. Mol Neurodegener. 2018;13:36. doi:10.1186/s13024-018-0269-1
Izquierdo AG, Crujeiras AB. Obesity-Related Epigenetic Changes After Bariatric Surgery. Front Endocrinol (Lausanne). 2019;10:232. doi:10.3389/fendo.2019.00232
Downloads
Published
Issue
Section
License
Copyright (c) 2025 Dr. Rebecca T. Hsu, Dr. Hristelina Ilieva
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
