{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,3]],"date-time":"2026-02-03T10:57:17Z","timestamp":1770116237575,"version":"3.49.0"},"reference-count":30,"publisher":"Journal of Neurosurgery Publishing Group (JNSPG)","issue":"10","license":[{"start":{"date-parts":[[2025,3,10]],"date-time":"2025-03-10T00:00:00Z","timestamp":1741564800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Cosmet Laser Ther"],"published-print":{"date-parts":[[2025,3,10]]},"abstract":"<jats:sec>\n                    <jats:title>BACKGROUND<\/jats:title>\n                    <jats:p>Fragile X syndrome (FXS) is a genetic disorder that typically presents with neurodevelopmental abnormalities. Patients with FXS can present with signs and symptoms of connective tissue disorder (CTD) and occasionally with vascular disease. However, cerebrovascular disease is not well documented in these patients, and it is unknown whether there is a direct link between abnormal levels of fragile X protein (FMRP) and its mRNA.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>OBSERVATIONS<\/jats:title>\n                    <jats:p>Here, the authors present a rare case of an adult male with full mutation FXS of a high-functioning phenotype who presented with syncope, and on further evaluation, a fusiform dissecting aneurysm of the distal middle cerebral artery was identified. The patient was treated for the aneurysm and recovered successfully.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>LESSONS<\/jats:title>\n                    <jats:p>Previous clinical evidence suggests that there might be an association between FMRP and increased mRNA levels on CTD and vascular pathologies in patients with FXS. This leads the authors to believe that their patient\u2019s previous FXS diagnosis might have played a role in the spontaneous aneurysm and presents a novel area of inquiry in the clinical and pathological manifestations of this disease. Therefore, screening for underlying FXS genetic abnormalities in patients with CNS aneurysms and screening for aneurysms in those with these mutations might need to be considered.<\/jats:p>\n                    <jats:p>\n                      <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"uri\" xlink:href=\"https:\/\/thejns.org\/doi\/10.3171\/CASE24889\">https:\/\/thejns.org\/doi\/10.3171\/CASE24889<\/jats:ext-link>\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.3171\/case24889","type":"journal-article","created":{"date-parts":[[2025,3,10]],"date-time":"2025-03-10T03:00:00Z","timestamp":1741575600000},"source":"Crossref","is-referenced-by-count":1,"title":["Spontaneous distal middle cerebral artery aneurysm in a young male with full mutation of the fragile X syndrome with a high-functioning phenotype: illustrative case"],"prefix":"10.3171","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8328-2928","authenticated-orcid":true,"given":"Eleni","family":"Papadopoulos","sequence":"first","affiliation":[{"name":"Rowan-Virtua School of Osteopathic Medicine, Stratford, New Jersey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Abrimian","sequence":"additional","affiliation":[{"name":"Rowan-Virtua School of Osteopathic Medicine, Stratford, New Jersey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hekmat","family":"Zarzour","sequence":"additional","affiliation":[{"name":"Department of Neurological Surgery, Thomas Jefferson University, Philadelphia, Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5029-8448","authenticated-orcid":true,"given":"Randi J.","family":"Hagerman","sequence":"additional","affiliation":[{"name":"MIND Institute and Department of Pediatrics, University of California Davis Health, Sacramento, California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9866-4782","authenticated-orcid":true,"given":"Richard F.","family":"Schmidt","sequence":"additional","affiliation":[{"name":"Department of Neurological Surgery, Thomas Jefferson University, Philadelphia, Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1754","reference":[{"issue":"1","key":"bib1","series-title":"Brain Sci","first-page":"11","article-title":"Closing the gender gap in fragile X syndrome: review on females with FXS and preliminary research findings","volume":"9","author":"Bartholomay","year":"2019","unstructured":"Bartholomay KLLee CHBruno JLLightbody AAReiss AL.Closing the gender gap in fragile X syndrome: review on females with FXS and preliminary research findings. Brain Sci. 12 2019;9(1):11."},{"issue":"6","key":"bib2","series-title":"Curr Biol","first-page":"R273","article-title":"Fragile X syndrome","volume":"31","author":"Hagerman","year":"2021","unstructured":"Hagerman PJHagerman R.Fragile X syndrome. Curr Biol. 2021;31(6):R273-R275."},{"issue":"6","key":"bib3","series-title":"Clin Case Rep","first-page":"e7371","article-title":"High performing male with fragile X syndrome with an unmethylated FMR1 full mutation: the relevance of clinical and genetic correlations","volume":"11","author":"Shieh","year":"2023","unstructured":"Shieh MAmkraut KSpiridigliozzi GAHigh performing male with fragile X syndrome with an unmethylated FMR1 full mutation: the relevance of clinical and genetic correlations. Clin Case Rep. 2023;11(6):e7371."},{"key":"bib4","article-title":"Fragile X syndrome","author":"Stone","unstructured":"Stone WLBasit HShah MLos E.Fragile X syndrome. StatPearls Publishing; 2023. Accessed February 3, 2025. https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK459243\/"},{"issue":"3","key":"bib5","series-title":"Intractable Rare Dis Res","first-page":"123","article-title":"Anxiety disorders in fragile X premutation carriers: preliminary characterization of probands and non-probands","volume":"4","author":"Cordeiro","year":"2015","unstructured":"Cordeiro LAbucayan FHagerman RTassone FHessl D.Anxiety disorders in fragile X premutation carriers: preliminary characterization of probands and non-probands. Intractable Rare Dis Res. 2015;4(3):123-130."},{"issue":"2","key":"bib6","series-title":"Clin Genet","first-page":"262","article-title":"Fragile X syndrome and connective tissue dysregulation","volume":"95","author":"Ram\u00edrez-Cheyne","year":"2019","unstructured":"Ram\u00edrez-Cheyne JADuque GAAyala-Zapata SFragile X syndrome and connective tissue dysregulation. Clin Genet. 2019;95(2):262-267."},{"key":"bib7","series-title":"Advances in Pharmacology","first-page":"241","article-title":"Matrix metalloproteinases, vascular remodeling, and vascular disease","author":"Wang","year":"2018","unstructured":"Wang XChapter Eight KRA.Matrix metalloproteinases, vascular remodeling, and vascular disease. In: Khalil RA, ed. Advances in Pharmacology. Academic Press; 2018:241-330."},{"issue":"3","key":"bib8","series-title":"Cell Rep","first-page":"869","article-title":"Sequestration of DROSHA and DGCR8 by expanded CGG RNA repeats alters microRNA processing in fragile X-associated tremor\/ataxia syndrome","volume":"3","author":"Sellier","year":"2013","unstructured":"Sellier CFreyermuth FTabet RSequestration of DROSHA and DGCR8 by expanded CGG RNA repeats alters microRNA processing in fragile X-associated tremor\/ataxia syndrome. Cell Rep. 2013;3(3):869-880."},{"issue":"1-2","key":"bib9","series-title":"Am J Med Genet","first-page":"83","article-title":"Aortic hypoplasia and cardiac valvular abnormalities in a boy with fragile X syndrome","volume":"30","author":"Waldstein","year":"1988","unstructured":"Waldstein GHagerman R.Aortic hypoplasia and cardiac valvular abnormalities in a boy with fragile X syndrome. Am J Med Genet. 1988;30(1-2):83-98."},{"issue":"1","key":"bib10","series-title":"JACC Case Rep","first-page":"40","article-title":"Spontaneous coronary artery dissection in females with the fragile X FMR1 premutation","volume":"2","author":"McKenzie","year":"2020","unstructured":"McKenzie FJTassankijpanich NEpps KCMarch SKHagerman RJ.Spontaneous coronary artery dissection in females with the fragile X FMR1 premutation. JACC Case Rep. 2020;2(1):40-44."},{"issue":"1","key":"bib11","series-title":"Brain","first-page":"243","article-title":"Neuropathology of fragile X-associated tremor\/ataxia syndrome (FXTAS)","volume":"129","author":"Greco","year":"2006","unstructured":"Greco CMBerman RFMartin RMNeuropathology of fragile X-associated tremor\/ataxia syndrome (FXTAS). Brain. 2006;129(1):243-255."},{"key":"bib12","series-title":"Front Aging Neurosci","first-page":"934725","article-title":"Clinical and mechanism advances of neuronal intranuclear inclusion disease","volume":"14","author":"Liu","year":"2022","unstructured":"Liu YLi HLiu XClinical and mechanism advances of neuronal intranuclear inclusion disease. Front Aging Neurosci. 2022;14:934725."},{"issue":"1","key":"bib13","series-title":"Ital J Pediatr","first-page":"39","article-title":"Fragile X syndrome: a review of clinical and molecular diagnoses","volume":"43","author":"Ciaccio","year":"2017","unstructured":"Ciaccio CFontana LMilani DTabano SMiozzo MEsposito S.Fragile X syndrome: a review of clinical and molecular diagnoses. Ital J Pediatr. 2017;43(1):39."},{"issue":"7","key":"bib14","series-title":"Lancet Neurol","first-page":"626","article-title":"Prevalence of unruptured intracranial aneurysms, with emphasis on sex, age, comorbidity, country, and time period: a systematic review and meta-analysis","volume":"10","author":"Vlak","year":"2011","unstructured":"Vlak MHAlgra ABrandenburg RRinkel GJ.Prevalence of unruptured intracranial aneurysms, with emphasis on sex, age, comorbidity, country, and time period: a systematic review and meta-analysis. Lancet Neurol. 2011;10(7):626-636."},{"issue":"1-2","key":"bib15","series-title":"World Neurosurg","first-page":"103","article-title":"Distal aneurysms of intracranial arteries: application of numerical nomenclature, predilection for cerebellar arteries, and results of surgical management","volume":"80","author":"Rodr\u00edguez-Hern\u00e1ndez","year":"2013","unstructured":"Rodr\u00edguez-Hern\u00e1ndez AZador ZRodr\u00edguez-Mena RLawton MT.Distal aneurysms of intracranial arteries: application of numerical nomenclature, predilection for cerebellar arteries, and results of surgical management. World Neurosurg. 2013;80(1-2):103-112."},{"issue":"1","key":"bib1","series-title":"Brain Sci","first-page":"11","article-title":"Closing the gender gap in fragile X syndrome: review on females with FXS and preliminary research findings","volume":"9","author":"Bartholomay","year":"2019","unstructured":"Bartholomay KLLee CHBruno JLLightbody AAReiss AL.Closing the gender gap in fragile X syndrome: review on females with FXS and preliminary research findings. Brain Sci. 12 2019;9(1):11."},{"issue":"6","key":"bib2","series-title":"Curr Biol","first-page":"R273","article-title":"Fragile X syndrome","volume":"31","author":"Hagerman","year":"2021","unstructured":"Hagerman PJHagerman R.Fragile X syndrome. Curr Biol. 2021;31(6):R273-R275."},{"issue":"6","key":"bib3","series-title":"Clin Case Rep","first-page":"e7371","article-title":"High performing male with fragile X syndrome with an unmethylated FMR1 full mutation: the relevance of clinical and genetic correlations","volume":"11","author":"Shieh","year":"2023","unstructured":"Shieh MAmkraut KSpiridigliozzi GAHigh performing male with fragile X syndrome with an unmethylated FMR1 full mutation: the relevance of clinical and genetic correlations. Clin Case Rep. 2023;11(6):e7371."},{"key":"bib4","article-title":"Fragile X syndrome","author":"Stone","unstructured":"Stone WLBasit HShah MLos E.Fragile X syndrome. StatPearls Publishing; 2023. Accessed February 3, 2025. https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK459243\/"},{"issue":"3","key":"bib5","series-title":"Intractable Rare Dis Res","first-page":"123","article-title":"Anxiety disorders in fragile X premutation carriers: preliminary characterization of probands and non-probands","volume":"4","author":"Cordeiro","year":"2015","unstructured":"Cordeiro LAbucayan FHagerman RTassone FHessl D.Anxiety disorders in fragile X premutation carriers: preliminary characterization of probands and non-probands. Intractable Rare Dis Res. 2015;4(3):123-130."},{"issue":"2","key":"bib6","series-title":"Clin Genet","first-page":"262","article-title":"Fragile X syndrome and connective tissue dysregulation","volume":"95","author":"Ram\u00edrez-Cheyne","year":"2019","unstructured":"Ram\u00edrez-Cheyne JADuque GAAyala-Zapata SFragile X syndrome and connective tissue dysregulation. Clin Genet. 2019;95(2):262-267."},{"key":"bib7","series-title":"Advances in Pharmacology","first-page":"241","article-title":"Matrix metalloproteinases, vascular remodeling, and vascular disease","author":"Wang","year":"2018","unstructured":"Wang XChapter Eight KRA.Matrix metalloproteinases, vascular remodeling, and vascular disease. In: Khalil RA, ed. Advances in Pharmacology. Academic Press; 2018:241-330."},{"issue":"3","key":"bib8","series-title":"Cell Rep","first-page":"869","article-title":"Sequestration of DROSHA and DGCR8 by expanded CGG RNA repeats alters microRNA processing in fragile X-associated tremor\/ataxia syndrome","volume":"3","author":"Sellier","year":"2013","unstructured":"Sellier CFreyermuth FTabet RSequestration of DROSHA and DGCR8 by expanded CGG RNA repeats alters microRNA processing in fragile X-associated tremor\/ataxia syndrome. Cell Rep. 2013;3(3):869-880."},{"issue":"1-2","key":"bib9","series-title":"Am J Med Genet","first-page":"83","article-title":"Aortic hypoplasia and cardiac valvular abnormalities in a boy with fragile X syndrome","volume":"30","author":"Waldstein","year":"1988","unstructured":"Waldstein GHagerman R.Aortic hypoplasia and cardiac valvular abnormalities in a boy with fragile X syndrome. Am J Med Genet. 1988;30(1-2):83-98."},{"issue":"1","key":"bib10","series-title":"JACC Case Rep","first-page":"40","article-title":"Spontaneous coronary artery dissection in females with the fragile X FMR1 premutation","volume":"2","author":"McKenzie","year":"2020","unstructured":"McKenzie FJTassankijpanich NEpps KCMarch SKHagerman RJ.Spontaneous coronary artery dissection in females with the fragile X FMR1 premutation. JACC Case Rep. 2020;2(1):40-44."},{"issue":"1","key":"bib11","series-title":"Brain","first-page":"243","article-title":"Neuropathology of fragile X-associated tremor\/ataxia syndrome (FXTAS)","volume":"129","author":"Greco","year":"2006","unstructured":"Greco CMBerman RFMartin RMNeuropathology of fragile X-associated tremor\/ataxia syndrome (FXTAS). Brain. 2006;129(1):243-255."},{"key":"bib12","series-title":"Front Aging Neurosci","first-page":"934725","article-title":"Clinical and mechanism advances of neuronal intranuclear inclusion disease","volume":"14","author":"Liu","year":"2022","unstructured":"Liu YLi HLiu XClinical and mechanism advances of neuronal intranuclear inclusion disease. Front Aging Neurosci. 2022;14:934725."},{"issue":"1","key":"bib13","series-title":"Ital J Pediatr","first-page":"39","article-title":"Fragile X syndrome: a review of clinical and molecular diagnoses","volume":"43","author":"Ciaccio","year":"2017","unstructured":"Ciaccio CFontana LMilani DTabano SMiozzo MEsposito S.Fragile X syndrome: a review of clinical and molecular diagnoses. Ital J Pediatr. 2017;43(1):39."},{"issue":"7","key":"bib14","series-title":"Lancet Neurol","first-page":"626","article-title":"Prevalence of unruptured intracranial aneurysms, with emphasis on sex, age, comorbidity, country, and time period: a systematic review and meta-analysis","volume":"10","author":"Vlak","year":"2011","unstructured":"Vlak MHAlgra ABrandenburg RRinkel GJ.Prevalence of unruptured intracranial aneurysms, with emphasis on sex, age, comorbidity, country, and time period: a systematic review and meta-analysis. Lancet Neurol. 2011;10(7):626-636."},{"issue":"1-2","key":"bib15","series-title":"World Neurosurg","first-page":"103","article-title":"Distal aneurysms of intracranial arteries: application of numerical nomenclature, predilection for cerebellar arteries, and results of surgical management","volume":"80","author":"Rodr\u00edguez-Hern\u00e1ndez","year":"2013","unstructured":"Rodr\u00edguez-Hern\u00e1ndez AZador ZRodr\u00edguez-Mena RLawton MT.Distal aneurysms of intracranial arteries: application of numerical nomenclature, predilection for cerebellar arteries, and results of surgical management. World Neurosurg. 2013;80(1-2):103-112."}],"container-title":["Journal of Neurosurgery: Case Lessons"],"original-title":[],"link":[{"URL":"https:\/\/thejns.org\/view\/journals\/j-neurosurg-case-lessons\/9\/10\/article-CASE24889.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/thejns.org\/downloadpdf\/journals\/j-neurosurg-case-lessons\/9\/10\/article-CASE24889.xml","content-type":"text\/html","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/thejns.org\/downloadpdf\/journals\/j-neurosurg-case-lessons\/9\/10\/article-CASE24889.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,2]],"date-time":"2026-02-02T23:37:04Z","timestamp":1770075424000},"score":1,"resource":{"primary":{"URL":"https:\/\/thejns.org\/view\/journals\/j-neurosurg-case-lessons\/9\/10\/article-CASE24889.xml"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,3,10]]},"references-count":30,"journal-issue":{"issue":"10"},"URL":"https:\/\/doi.org\/10.3171\/case24889","relation":{},"ISSN":["2694-1902"],"issn-type":[{"value":"2694-1902","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,3,10]]}}}