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Last update 08 May 2025

Hydrocephalus, X-Linked

Last update 08 May 2025

Basic Info

Synonyms

AQUEDUCTAL STENOSIS, X-LINKED, Aqueductal stenosis, X-linked, Bickers-Adams syndrome

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Introduction

A congenital, X-linked, clinical subtype of L1 syndrome characterized by severe hydrocephalus often of prenatal onset, adducted thumbs, spasticity (mostly evidenced by brisk tendon reflexes and extensor plantar responses) and moderate to severe intellectual disability. This subtype represents the severe end of the L1 syndrome spectrum and is associated with poor prognosis.

Clinical Trials associated with Hydrocephalus, X-Linked

NCT06147414

/ RecruitingNot ApplicableIIT

Evaluation of the Diagnostic Performance of Non-Invasive Prenatal Diagnosis for Single Gene Disorders

Cell-free fetal DNA (cffDNA) is present in the maternal blood from the early first trimester of gestation and makes up 5%-20% of the total circulating cell-free DNA (cfDNA) in maternal plasma. Its presence in maternal plasma has allowed development of noninvasive prenatal diagnosis for single-gene disorders (SGD-NIPD). This can be performed from 9 weeks of amenorrhea and offers an early, safe and accurate definitive diagnosis without the miscarriage risk associated with invasive procedures. One of the major difficulties is distinguishing fetal genotype in the high background of maternal cfDNA, which leads to several technical and analytical challenges. Besides, unlike noninvasive prenatal testing for aneuploidy, NIPD for monogenic diseases represent a smaller market opportunity, and many cases must be provided on a bespoke, patient- or disease-specific basis. As a result, implementation of SGD-NIPD remained sparse, with most testing being delivered in a research setting.
The present project aims to take advantage of the unique French collaborative network to make SGD-NIPD possible for theoretically any monogenic disorder and any family.

Start Date23 Oct 2024

Sponsor / Collaborator

Assistance Publique des Hôpitaux de Paris SA

NL-OMON33663

/ CompletedNot ApplicableIIT

Normal values for ventricle volumes and cerebrospinal fluid (CSF) circulation - Normal values CSF

Start Date01 Sep 2009

Sponsor / Collaborator-

100 Clinical Results associated with Hydrocephalus, X-Linked

100 Translational Medicine associated with Hydrocephalus, X-Linked

0 Patents (Medical) associated with Hydrocephalus, X-Linked

705

Literatures (Medical) associated with Hydrocephalus, X-Linked

01 Apr 2025·Nephrology Dialysis Transplantation

Genotype and X-chromosome inactivation are associated with disease severity in females with X-linked Alport syndrome

Article

Author: Kitakado, Hideaki ; Okamoto, Takayuki ; Ishiko, Shinya ; Horinouchi, Tomoko ; Aoto, Yuya ; Nozu, Kandai ; Nagano, China ; Sakakibara, Nana ; Ueda, Chika ; Ichikawa, Yuta ; Ishimori, Shingo ; Kondo, Atsushi ; Tanaka, Yu ; Murakami, Sae ; Yamamura, Tomohiko ; Okada, Eri ; Suzuki, Ryota

ABSTRACTBackgroundMale patients with X-linked Alport syndrome (XLAS) generally develop end-stage kidney disease in early or middle adulthood and show distinct genotype–phenotype correlations. However, female patients show various phenotypes ranging from asymptomatic to severe with no genotype–phenotype correlations. The factors affecting the severity of XLAS in female patients are unclear. Since X-chromosome inactivation (XCI) affects the severity of certain female X-linked diseases, we investigated whether genotype and XCI were associated with XLAS severity in female patients in a large Japanese cohort.MethodsAmong 139 female patients with genetically diagnosed XLAS at our institution, we conducted XCI analysis on peripheral blood leucocytes using the human androgen receptor assay method and analysed two cohorts. In 74 adult female patients we evaluated the correlation between kidney function [creatinine estimated glomerular filtration rate (Cr-eGFR) optimized for Japanese individuals] and genotype/XCI using multivariable linear regression analysis and in 65 paediatric female patients we evaluated the correlation between kidney function (Cr-eGFR optimized for Japanese individuals) and genotype/XCI using multivariable linear regression analysis. We also investigated the correlation between the development of proteinuria (urine protein:creatinine ratio above normal for the patient's age) and genotype/XCI using multivariable Cox proportional hazards analysis.ResultsIn adult female patients, the XCI pattern was significantly associated with Cr-eGFR (regression coefficient estimate −0.53, P = .004), whereas genotype was not (P = .892). In paediatric female patients, both genotype and XCI pattern were significant independent risk factors for the development of proteinuria {hazard ratio [HR] 3.702 [95% confidence interval (CI) 1.681–8.150], P = .001 and HR 1.043 [95% CI 1.061–1.070], P = .001, respectively}, whereas both genotype and XCI pattern were not associated with Cr-eGFR (P = .20 and P = .67, respectively).ConclusionGenotype and XCI are factors associated with severity in females with XLAS.

01 Mar 2025·European Journal of Neurology

Natural Progression of Pineal Cysts in Relation to Headache: A Prospective Observational Study

Article

Author: Hylin, Sofia ; Mathiesen, Tiit ; Tsigka, Eirini ; Jensen, Rigmor Hoejland ; Hvingelby, Victor

ABSTRACTBackgroundPineal cysts are a frequent, potentially incidental finding in routine imaging studies. Their relationship with headache has been a matter of some controversy. In this prospective observational study, we sought to track the clinical and radiological trajectory of pineal cysts in both patients with and without concurrent headache.MethodsA cohort study was conducted in patients referred to the Department of Neurosurgery at Karolinska Hospital for evaluation of a pineal cyst ≥ 5 mm between June 2005 and April 2017. Patients were stratified according to headache status and classified according to standard criteria. Development in cyst size and degree of aqueduct stenosis, as well as clinical progression of headache, was tracked.Results157 cysts were identified (50 males and 107 females, mean age: 37 years), 103 of which were in patients primarily assessed for headaches. Cyst size remained stable over the follow‐up period. There was no relationship between cyst size, the presence or progression of headache, nor with amenability to treatment. No relationship between the mass effect of the quadrigeminal plate and headache was observed. Of 13 patients treated with melatonin, 7 (53%) reported a subsequent decrease in headache severity.ConclusionsA major proportion of seemingly incidental pineal cysts referred for neurosurgical evaluation were detected during work‐up for headache. Furthermore, the size and symptoms associated with cysts remain stable over time, barring intervention. The therapeutic implications and relationship with other factors such as melatonin remain to be explored.

21 Feb 2025·Journal of Neuropathology & Experimental Neurology

Mesencephalosynapsis and aqueductal stenosis

Article

Author: Fisher, Yael ; Greenberg, Orli ; Blaser, Susan ; Shannon, Patrick ; Shinar, Shiri ; Chong, Karen ; Chitayat, David

AbstractMesencephalosynapsis is characterized by a failure of the dorsal brainstem colliculi to separate into distinct lateral masses (non-cleavage, a.k.a. “fusion”). It is linked to ventriculomegaly and aqueductal stenosis but other associations have not been systematically examined. We reviewed a large cohort of fetal hydrocephalus cases to explore associations of aqueductal stenosis, mesencephalosynapsis, and other pathologies. Among 115 cases of fetal obstructive hydrocephalus (15-41 weeks gestation), mesencephalosynapsis was seen in 44 cases (38.3%). We graded the wide range of abnormal aqueductal histology; mesencephalosynapsis was associated with 67% of severe, 35% of mild, and 10% of borderline aqueductal pathologies. In 75% of cases, it was associated with other CNS anomalies, including rhombencephalosynapsis, holoprosencephaly, hemifacial microsomia, and amniotic rupture sequence. We also identified 2 cases of aqueductal stenosis associated with brainstem tegmental injury, probably ischemic in origin, without mesencephalosynapsis. Clinical and genetic associations of mesencephalosynapsis included diabetic embryopathy, amniotic rupture sequence, chromosomal abnormalities, and mutations in TBCD132, FRAS1, and NECTIN1. This is the largest review of the histology of fetal aqueductal stenosis to date. We conclude that mesencephalosynapsis points to a defect in embryonic brainstem patterning and may be isolated, associated with other malformations, and that it is found in heritable and non-heritable conditions.

News (Medical) associated with Hydrocephalus, X-Linked

22 Oct 2024

·www.biospace.com

SonoThera to Present at ASN Kidney Week 2024 Demonstrating the Potential of Novel Nonviral Ultrasound-Mediated Gene Therapy Delivery Platform

Presentations confirm potential of delivering targeted gene therapy using SonoThera’s novel, ultrasound-mediated nonviral gene therapy platform in murine models of X-linked Alport Syndrome (XLAS) and Autosomal Dominant Polycystic Kidney Disease (ADPKD) as well as non-human primates. Data demonstrates the ability to deliver oversized nucleic acid payloads non-invasively, to the kidneys using FDA cleared/approved ultrasound components with established safety in humans. Results highlight the potential use of targeted nonviral nucleic acid delivery to podocytes and tubule epithelial cells in the kidney, resulting in durable gene expression and the ability to re-dose, and dose titrate with exemplary safety and efficacy. SOUTH SAN FRANCISCO, Calif.--(BUSINESS WIRE)-- #AIportSyndrome -- SonoThera ™, a biotechnology company dedicated to treating the root cause of human diseases through genetic therapy, today announced that it will deliver three presentations at the American Society of Nephrology Kidney Week 2024 annual meeting taking place in San Diego, California, October 23-27, 2024. Each presentation features SonoThera’s novel, ultrasound-mediated nonviral gene therapy platform, which is being developed to non-invasively deliver nucleic acid payloads of diverse formats and sizes. While the platform is designed to selectively target a wide range of organs within the body, research presented at ASN Kidney Week focuses on its potential in the treatment of X-linked Alport Syndrome and Autosomal Dominant Polycystic Kidney Disease, and its targeted delivery of re-dosable DNA payloads resulting in robust and durable gene expression in podocytes and tubule epithelial cells in the kidneys of murine and NHP models. “Taken together, these three abstracts demonstrate the potential which targeted, nonviral, ultrasound-mediated gene therapy can offer in diseases where presently, we have some of the greatest challenges in finding effective treatments. We look forward to presenting our results at ASN Kidney Week.” said Kenneth Greenberg, PhD, CEO of SonoThera, who will be presenting the Company’s session focused on nonviral gene therapy for X-linked Alport Syndrome. Session Details: Title: Development of a Nonviral Gene Therapy for X-linked Alport Syndrome by Targeted Transcutaneous Ultrasound-Mediated Gene Delivery Presenter: Kenneth Greenberg, PhD, CEO of SonoThera Session Category: 1201 Genetic Diseases of the Kidneys: Cystic - Non-Cystic Genetic Kidney Diseases: Disease Genes, Modifiers, and Therapies Session Date/Time: Thursday, October 24, 5:50pm – 6:00pm, Room 23, Convention Center Abstract Number: TH-OR90 Title: Development of a Nonviral Genetic Medicine for ADPKD Administered through Targeted Transcutaneous Ultrasound-Mediated Delivery Presenter: Margot Krivega, PhD Session Category: 1201 Genetic Diseases of the Kidneys: Cystic - Cystic Kidney Diseases: Clinical Assessment and Therapeutic Directions Session Date/Time: Thursday, October 24, 10:00am – 12:00pm, Exhibit Hall, Convention Center Abstract Number: TH-PO431 Title: Kidney-Targeted Delivery of Nonviral Nucleic Acids Using Noninvasive Transcutaneous Ultrasound Enables Safe, Re-dosable, Titratable, and Durable Gene Expression in Mice and Nonhuman Primates Presenter: Burt Frederich, PhD Session Category: 1201 Genetic Diseases of the Kidneys: Cystic - Cystic Kidney Diseases: Clinical Assessment and Therapeutic Directions Session Date/Time: Thursday, October 24, 10:00am – 12:00pm, Exhibit Hall, Convention Center Abstract Number: TH-PO432 About SonoThera™ Founded by Drs. Kenneth Greenberg, Michael Davidson, and Steve Feinstein, SonoThera, Inc. is a biotechnology company dedicated to treating the root cause of human disease through genetic therapy. SonoThera is developing an ultrasound-mediated, nonviral gene therapy platform treatments designed to provide patients with the next generation of safe and effective genetic medicines. The platform utilizes sonoporation, a microbubble-mediated biophysical process to non-invasively deliver genetic payloads selectively targeting a wide range of organs within the body. SonoThera is headquartered in South San Francisco, California. Visit to learn more. Contacts Investor Inquiries: investors@sonothera.com Media Inquiries: Mog & Springer Communications on behalf of SonoThera, Inc. Elizabeth Harness, Principal, P: +1 585-435-7379, elizabeth.harness@mogandspringer.com

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Hydrocephalus, X-Linked

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