Last update 01 Nov 2024

Agenesis of Cerebellar Vermis

Last update 01 Nov 2024

Basic Info

Synonyms

Agenesis of Cerebellar Vermis, Agenesis of cerebellar vermis, CEREBELLOOCULORENAL SYNDROME 1

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Introduction

A rare genetic syndrome characterized by the hypoplasia or absence of the cerebellar vermis. Signs and symptoms include rapid breathing (hyperpnea), sleep apnea, abnormal eye movements, mental retardation, and ataxia.

Clinical Trials associated with Agenesis of Cerebellar Vermis

NCT04874909 / RecruitingNot ApplicableIIT

Classification and Functional Stratification of the Patients With Ciliopathy and Identification of Biomarkers to Improve Their Prognosis

The purpose of the C'IL-LICO RICM study is to develop innovative and transformative diagnostic and prognostic for patients suffering from ciliopathies leading to renal failure.
The objectives is to decipher disease mechanisms and highlight signaling pathways altered in at-risk to develop renal failure patient groups and to produce a prognostic biomarker-based kit to predict the evolution of ciliopathy patients towards renal impairment.

Start Date08 Nov 2021

Sponsor / Collaborator

Assistance Publique des Hôpitaux de Paris SA

ChiCTR2100048366 / SuspendedPhase 1IIT

Complete transcriptome sequencing of Joubert syndrome

Start Date01 Jul 2021

Sponsor / Collaborator-

ChiCTR2100042216 / RecruitingEarly Phase 1IIT

Evaluation of ultrasonographic quantitative threshold in fetuses with vermian hypoplasia

Start Date01 Jan 2020

Sponsor / Collaborator-

100 Clinical Results associated with Agenesis of Cerebellar Vermis

100 Translational Medicine associated with Agenesis of Cerebellar Vermis

0 Patents (Medical) associated with Agenesis of Cerebellar Vermis

1,342

Literatures (Medical) associated with Agenesis of Cerebellar Vermis

01 Jan 2025·Human Genetics and Genomics Advances

Togaram1 is expressed in the neural tube and its absence causes neural tube closure defects

Article

Author: Ninnemann, Olaf ; Hu, Hao ; Kaindl, Angela M ; Weng, Kai ; Kaindl, Angela M. ; Kraemer, Nadine ; Mani, Shyamala ; Reid, Joshua ; Schneider, Joanna ; Li, Na ; Hildebrand, Michael ; Wang, Yanyan

Neural tube closure defect pathomechanisms in human embryonic development are poorly understood. Here we identified spina bifida patients expressing novel variants of the TOGARAM gene family. TOGARAM1 has been associated with the ciliopathy Joubert syndrome, but its connection to spina bifida and role in neural development is unknown. We show that Togaram1 is expressed in the neural tube and Togaram1 knockout mice have abnormal cilia, reduced sonic hedgehog (Shh) signaling, abnormal neural tube patterning, and display neural tube closure defects. Neural stem cells from Togaram1 knockout embryos showed reduced cilia and defects in Shh signaling. Overexpression in IMCD3 and HEK293 cells of TOGARAM1 carrying the variant found in the spina bifida patient resulted in cilia defect along with reduced pericentriolar material one (PCM1), a critical constituent of centriolar satellites involved in transporting proteins toward the centrosome and primary cilia. Our results demonstrate the role of TOGARAM1 in regulating Shh signaling during early neural development that is critical for neural tube closure and elucidates potential mechanisms whereby the ciliopathy-associated gene TOGARAM1 gives rise to spina bifida aperta in humans.

01 Nov 2024·Pediatric Neurology

Developmental, Cognitive, Ocular Motor, and Neuroimaging Findings Related to SUFU Haploinsufficiency: Unraveling Subtle and Highly Variable Phenotypes

Article

Author: Kepa, Sylvia ; Grisold, Anna ; Laccone, Franco ; Schmook, Maria T. ; Schmidt, Wolfgang M. ; Krenn, Martin ; Schmidt, Wolfgang M ; Wiest, Gerald ; Pal-Handl, Katharina ; Lilja, Stephanie ; Schmook, Maria T ; Boltshauser, Eugen ; Pogledic, Ivana ; Silvaieh, Sara ; Siegert, Sandy

BACKGROUNDBiallelic SUFU variants have originally been linked to Joubert syndrome, comprising cerebellar abnormalities, dysmorphism, and polydactyly. In contrast, heterozygous truncating variants have recently been associated with developmental delay and ocular motor apraxia, but only a limited number of patients have been reported. Here, we aim to delineate further the mild end of the phenotypic spectrum related to SUFU haploinsufficiency.METHODSNine individuals (from three unrelated families) harboring truncating SUFU variants were investigated, including two previously reported individuals (from one family). We provide results from a comprehensive assessment comprising neuroimaging, neuropsychology, video-oculography, and genetic testing.RESULTSWe identified three inherited or de novo truncating variants in SUFU (NM_016169.4): c.895C>T p.(Arg299∗), c.71dup p.(Ala25Glyfs∗23), and c.71del p.(Pro24Argfs∗72). The phenotypic expression showed high variability both between and within families. Clinical features include motor developmental delay (seven of nine), axial hypotonia (five of nine), ocular motor apraxia (three of nine), and cerebellar signs (three of nine). Four of the six reported children had macrocephaly. Neuropsychological and developmental assessments revealed mildly delayed language development in the youngest children, whereas general cognition was normal in all variant carriers. Subtle but characteristic SUFU-related neuroimaging abnormalities (including superior cerebellar dysplasia, abnormalities of the superior cerebellar peduncles, rostrally displaced fastigium, and vermis hypoplasia) were observed in seven of nine individuals.CONCLUSIONSOur data shed further light on the mild but recognizable features of SUFU haploinsufficiency and underline its marked phenotypic variability, even within families. Notably, neurodevelopmental and behavioral abnormalities are mild compared with Joubert syndrome and seem to be well compensated over time.

05 Oct 2024·Korean Journal of Ophthalmology

Coats-like Exudative Retinopathy in a Patient with Joubert Syndrome with CEP290 Mutation: A Case Report

Article

Author: Kim, Sang Jin ; Hwang, Sungsoon ; Goh, Yong Hyu

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