Xp22.2 Chromosomal Duplication in Familial Intracranial Arachnoid Cyst.
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ABSTRACT:
SUBMITTER: Furey CG
PROVIDER: S-EPMC5822190 | biostudies-literature | 2017 Dec
REPOSITORIES: biostudies-literature
Publications
Xp22.2 Chromosomal Duplication in Familial Intracranial Arachnoid Cyst.
Furey Charuta G CG Timberlake Andrew T AT Nelson-Williams Carol C Duran Daniel D Li Peining P Jackson Eric M EM Kahle Kristopher T KT
JAMA neurology 20171201 12
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Project description:Spinal extradural arachnoid cyst (SEDAC) is a cyst in the spinal canal that protrudes into the epidural space from a defect in the dura mater. Most cases are sporadic; however, three familial SEDAC cases have been reported, suggesting genetic etiological factors. All familial cases are associated with lymphedema-distichiasis syndrome (LDS), whose causal gene is FOXC2. However, FOXC2 mutation analysis has been performed in only 1 family, and no mutation analysis has been performed on sporadic (non-familial) SEDACs. We recruited 17 SEDAC subjects consisting of 2 familial and 7 sporadic cases and examined FOXC2 mutations by Sanger sequencing and structural abnormalities by TaqMan copy number assay. We identified 2 novel FOXC2 mutations in 2 familial cases. Incomplete LDS penetrance was noted in both families. Four subjects presented with SEDACs only. Thus, SEDAC caused by the heterozygous FOXC2 loss-of-function mutation should be considered a feature of LDS, although it often manifests as the sole symptom. Seven sporadic SEDAC subjects had no FOXC2 mutations, no symptoms of LDS, and showed differing clinical characteristics from those who had FOXC2 mutations, suggesting that other gene(s) besides FOXC2 are likely to be involved in SEDAC.
| S-EPMC3838418 | biostudies-literature
Project description:BackgroundInterhemispheric arachnoid cysts are uncommon and typically associated with other midline neurodevelopmental disorders, such as complete or partial agenesis of the corpus callosum.Case descriptionWe report a case of a 27-year-old woman with worsening headache, memory deficit, and radiological progression of an interhemispheric arachnoid cyst. The treatment consisted of craniotomy for interhemispheric cyst fenestration into both the interhemispheric cistern and lateral ventricle. The postoperative course was unremarkable, with considerable clinical improvement and significant reduction in cyst size.ConclusionWe successfully treat a patient with an enlarging arachnoid cyst and associated progressive symptoms with microsurgical fenestration.
| S-EPMC8053473 | biostudies-literature
Project description:Arachnoid cysts (ACs) are the most common space-occupying lesions in the human brain and present significant challenges for clinical management. While most cases of ACs are sporadic, nearly 40 familial forms have been reported. Moreover, ACs are seen with increased frequency in multiple Mendelian syndromes, including Chudley-McCullough syndrome, acrocallosal syndrome, and autosomal recessive primary ciliary dyskinesia. These findings suggest that genetic factors contribute to AC pathogenesis. However, traditional linkage and segregation approaches have been limited in their ability to identify causative genes for ACs because the disease is genetically heterogeneous and often presents asymptomatically and sporadically. Here, we comprehensively review theories of AC pathogenesis, the genetic evidence for AC formation, and discuss a different approach to AC genomics that could help elucidate this perplexing lesion and shed light on the associated neurodevelopmental phenotypes seen in a significant subset of these patients.
| S-EPMC10388392 | biostudies-literature
Project description:ObjectiveThe association between ELP4 rs986527 polymorphism and the occurrence and development of intracranial arachnoid cyst was studied in this paper.MethodsEighty-five patients diagnosed with intracranial arachnoid cysts by cerebral computed tomography scan were selected. Sixty-three healthy volunteers for medical examination in hospitals served as controls. The cognition, depressive symptoms, and the likelihood of headache, dizziness, head trauma history, dementia, depression, and epilepsy were assessed. ELP4 genotypes and its allele frequency were determined by PCR, endonuclease restriction analysis, and gel electrophoresis.ResultsELP4 rs986527 had three genotypes: TT, TC, and CC. The intracranial arachnoid cyst group showed no statistically significant difference in genotype frequencies compared with healthy controls. There was no significant correlation between ELP4 rs986527 polymorphism and location of intracranial arachnoid cyst. TC and C genotype frequencies were associated with a higher incidence of clinical symptoms than TT genotype frequencies, and C allele frequencies were associated with a significantly higher incidence of clinical symptoms compared with T allele frequencies. There was no significant difference in TNF-α and IL-1β levels between TT/TC/CC genotypes before treatment. After treatment, the levels of TNF-α and IL-1β were significantly decreased in different genotypes, and the decrease in CC was the greatest. The frequency of TT and TC genotypes was higher than that of CC genotypes.ConclusionELP4 rs986527 polymorphism affected the incidence of clinical symptoms and the levels of TNF-α and IL-1β in patients with intracranial arachnoid cysts.
| S-EPMC6908874 | biostudies-literature
Project description:BACKGROUND: There is little knowledge concerning the content and the mechanisms of filling of arachnoid cysts. The aim of this study was to compare the protein content of arachnoid cysts and cerebrospinal fluid by quantitative proteomics to increase the understanding of arachnoid cysts. METHODS: Arachnoid cyst fluid and cerebrospinal fluid from five patients were analyzed by quantitative proteomics in two separate experiments.In a label-free experiment arachnoid cyst fluid and cerebrospinal fluid samples from individual patients were trypsin digested and analyzed by Orbitrap mass spectrometry in a label-free manner followed by data analysis using the Progenesis software.In the second proteomics experiment, a patient sample pooling strategy was followed by MARS-14 immunodepletion of high abundant proteins, trypsin digestion, iTRAQ labelling, and peptide separation by mix-phase chromatography followed by Orbitrap mass spectrometry analysis. The results from these analyzes were compared to previously published mRNA microarray data obtained from arachnoid membranes. RESULTS: We quantified 348 proteins by the label-free individual patient approach and 1425 proteins in the iTRAQ experiment using a pool from five patients of arachnoid cyst fluid and cerebrospinal fluid. This is by far the largest number of arachnoid cyst fluid proteins ever identified, and the first large-scale quantitative comparison between the protein content of arachnoid cyst fluid and cerebrospinal fluid from the same patients at the same time. Consistently in both experiment, we found 22 proteins with significantly increased abundance in arachnoid cysts compared to cerebrospinal fluid and 24 proteins with significantly decreased abundance. We did not observe any molecular weight gradient over the arachnoid cyst membrane. Of the 46 proteins we identified as differentially abundant in our study, 45 were also detected from the mRNA expression level study. None of them were previously reported as differentially expressed. We did not quantify any of the proteins corresponding to gene products from the ten genes previously reported as differentially abundant between arachnoid cysts and control arachnoid membranes. CONCLUSIONS: From our experiments, the protein content of arachnoid cyst fluid and cerebrospinal fluid appears to be similar. There were, however, proteins that were significantly differentially abundant between arachnoid cyst fluid and cerebrospinal fluid. This could reflect the possibility that these proteins are affected by the filling mechanism of arachnoid cysts or are shed from the membranes into arachnoid cyst fluid. Our results do not support the proposed filling mechanisms of oncotic pressure or valves.
| S-EPMC3641952 | biostudies-literature
Project description:Introduction:Spinal extradural arachnoid cysts (SEACs) are rare expansive lesions that account for ~1% of all spinal tumors. They develop as the result of arachnoid membrane herniation through a small dural defect and are mostly reported to be located at lower thoracic region and thoracolumbar junction. Case presentation:We report a rare case of SEAC located in the cervicothoracic junction causing neurologic compression. Discussion:Only 3% of all SEACs are observed in the cervical spine. They are the most common in young men and present with compressive symptoms. SEACs have potential to enlarge. As they are surgically removable lesions, early and definite diagnosis is important in preventing clinical deterioration. MRI is recommended for the diagnosis and preoperative planning.
| S-EPMC6786424 | biostudies-literature
Project description:BackgroundIntradural cysts of the spine are arachnoid cysts, neuroenteric cysts, and ependymal cysts. The usual finding in case of a neurenteric cyst is a ventrally located non-contrast-enhancing lesion that is isointense on T1-weighted sequence and hyperintense on T2-weighted imaging. An arachnoid cyst is hypointense in T1-weighted image and hyperintense in T2-weighted image, mimicking cerebrospinal fluid(CSF), and the location is dorsal to the cord. But a neurenteric cyst can mimic an arachnoid cyst in appearance.CaseA 48-yr old autorikshaw driver presented with weakness of fingers and lower limbs. All sensations were decreased below xiphisternum(T6). The gait was spastic. Magnetic Resonance Imaging(MRI) showed an extramedullary intradural cyst at C7-T1 level. It was hypointense on T1-weighted image and hyperintense on T2-weighted image. There was no enhancement with contrast. C7/T1 Laminectomy was done. On gentle retraction of the cord, a whitish cyst was seen. Some clear fluid was aspirated and cyst was excised en toto. Myelopathy improved over two weeks. Histopathological examination showed a cyst wall composed of fibrocollagenous tissue, and lined by pseudostratified epithelium containing many goblet cells and having focal ciliation. The findings were consistent with neurenteric cyst. Follow-up MRI after five years showed no recurrence.ConclusionTo our knowledge, the peculiarities of the case are that the radiological features mimicked arachnoid cyst in having the intensity of CSF. But the ventral location was suggestive of a neurenteric cyst. Total excision could be done through the posterior approach after decompressing the cyst by aspiration.
| S-EPMC8921272 | biostudies-literature
Project description:As one of the common neurological diseases, pediatric middle fossa arachnoid cysts(MFACs) can develop intracystic hemorrhage and subdural hematoma. Risk factors for pediatric arachnoid cyst rupture/hemorrhage is very complicated in mechanism. Although surgery is the first choice for children with MFACs and subdural hematoma, the rate of recurrence of the subdural hematoma is very high after 1 or more surgeries. Atorvastatin has proven to be a bold and safe choice in the management of subdural hematoma with mild symptoms. The present study has described a 7-year-old child with a recurrent rupture of arachnoid cyst develops into a subdural hematoma. We demonstrate that atorvastatin is safe and effective in pediatric patient who has failed surgical treatment of middle fossa arachnoid cyst and subdural hematoma. The patient received atorvastatin monotherapy, once daily for the first week, with an initial dose of 5 mg, followed by 10 mg once daily for 7 weeks. In the third month after the initial treatment, the neurological function recovered, and the hematoma completely resolved. This case report supports the concept that atorvastatin can promote the absorption of subdural hematoma.
| S-EPMC6884023 | biostudies-literature
Project description:Spinal extradural arachnoid cyst (SEDAC) is a cyst in the spinal canal, which causes spinal cord compression and subsequent neurological damage. We previously identified two FOXC2 mutations in two SEDAC families. The FOXC2 mutations have been shown to be responsible for lymphedema-distichiasis syndrome (LDS), which includes SEDAC as an occasionally associated phenotype. We encountered a non-familial patient with SEDAC associated with LDS, and identified a novel nonsense mutation in FOXC2, c.349C>T (p.Q117*).
| S-EPMC4785541 | biostudies-literature
Project description:BackgroundIntracranial arachnoid cysts are usually benign congenital findings of neuroimaging modalities, sometimes however, leading to focal neurological and psychiatric comorbidities. Whether primarily clinically silent cysts may become causally involved in cognitive decline in old age is neither well examined nor understood.Case presentationA 66-year old caucasian man presenting with a giant left-hemispheric frontotemporal cyst without progression of size, presented with slowly progressive cognitive decline. Neuropsychological assessment revealed an amnestic mild cognitive impairment (MCI) without further neurological or psychiatric symptoms. The patient showed mild medio-temporal lobe atrophy on structural MRI. Diffusion tensor and functional magnetic resonance imaging depicted a rather sustained function of the strongly suppressed left hemisphere. Amyloid-PET imaging was positive for increased amyloid burden and he was homozygous for the APOEε3-gene. A diagnosis of MCI due to Alzheimer's disease was given and a co-morbidity with a silent arachnoid cyst was assumed. To investigate, if a potentially reduced CSF flow due to the giant arachnoid cyst contributed to the early manifestation of AD, we reviewed 15 case series of subjects with frontotemporal arachnoid cysts and cognitive decline. However, no increased manifestation of neurodegenerative disorders was reported.ConclusionsWith this case report, we illustrate the necessity of a systematic work-up for neurodegenerative disorders in patients with arachnoid cysts and emerging cognitive decline. We finally propose a modus operandi for the stratification and management of patients with arachnoid cysts potentially susceptive for cognitive dysfunction.
| S-EPMC6728996 | biostudies-literature