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Joubert Syndrome and Related Disorders: Spectrum of Neuroimaging Findings in 75 Patients
Open accessAbstract
VH and MTS are the neuroimaging hallmarks of JSRD. We aimed to look at the full spectrum of neuroimaging findings in JSRD and reviewed the MR imaging of 75 patients with JSRD, including 13 siblings and 4 patients with OFD VI. All patients had VH and enlargement of the fourth ventricle. The degree of VH and the form of the MTS were variable. In most patients, the cerebellar hemispheres were normal and the PF was enlarged. Brain stem morphology was abnormal in 30% of the patients. Supratentorial findings included hippocampal malrotation, callosal dysgenesis, migration disorders, cephaloceles, and ventriculomegaly. All patients with OFD VI had a similar pattern, including HH in 2 patients. No neuroimaging-genotype correlation could be found. The wide neuroimaging spectrum in our patients supports the heterogeneity of JSRD. Neuroimaging differences in siblings represent intrafamilial heterogeneity. Due to the absence of a correlation with genotype, neuroimaging findings are of limited value in classifying patients with JSRD.
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“Indeed several of the monogenic causes of ASD, including TSC [56] and Joubert Syndrome [57, 58] show manifestations of abnormal axon path finding or migration abnormalities that are known to lead to alterations in brain structural connectivity.”
From Genetics of autism spectrum disorders (2011) · cites this paper as [57]
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Joubert Syndrome and related disorders
Brancati, F., Dallapiccola, B., & Valente, E. M. (2010) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-5-20 · Cited by 468
"Joubert Syndrome" Revisited: Key Ocular Motor Signs With Magnetic Resonance Imaging Correlation
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Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical Polymicrogyria
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Clinical and molecular features of Joubert syndrome and related disorders
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Molar tooth sign of the midbrain–hindbrain junction: Occurrence in multiple distinct syndromes
Gleeson, J. G., Keeler, L. C., Parisi, M. A., Marsh, S., Chance, P. F., Glass, I. A., Graham, J. M., Maria, B. L., Barkovich, A. J., & Dobyns, W. B. (2003) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.20437 · Cited by 246
Joubert Syndrome: Insights Into Brain Development, Cilium Biology, and Complex Disease
Doherty, D. (2009) · Seminars in Pediatric Neurology · doi:10.1016/j.spen.2009.06.002 · Cited by 182
Diffusion Tensor Imaging in Joubert Syndrome
Poretti, A., Boltshauser, E., Loenneker, T., Valente, E. M., Brancati, F., Il'yasov, K. A., & Huisman, T. A. G. M. (2007) · American Journal of Neuroradiology · doi:10.3174/ajnr.a0703 · Cited by 147
Self-citationJoubert, M., Eisenring, J.-J., Robb, J. P., & Andermann, F. (1999) · Journal of Child Neurology · doi:10.1177/088307389901400902 · Cited by 129
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Brain Stem and Cerebellar Findings in Joubert Syndrome
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Prenatal and Neonatal MR Imaging Findings in Oral-Facial-Digital Syndrome Type VI
Poretti, A., Brehmer, U., Scheer, I., Bernet, V., & Boltshauser, E. (2008) · American Journal of Neuroradiology · doi:10.3174/ajnr.a1038 · Cited by 37
Self-citationHypothalamic hamartoma in oral‐facial‐digital syndrome type VI (Váradi syndrome)
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Joubert syndrome with associated corpus callosum agenesis
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Interpeduncular Heterotopia in Joubert Syndrome: A Previously Undescribed MR Finding
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Self-citationJoubert’s syndrome and prenatal hydrocephalus
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Genetics of autism spectrum disorders
Geschwind, D. H. (2011) · Trends in Cognitive Sciences · doi:10.1016/j.tics.2011.07.003 · Cited by 696
Joubert syndrome: congenital cerebellar ataxia with the molar tooth
Romani, M., Micalizzi, A., & Valente, E. M. (2013) · The Lancet Neurology · doi:10.1016/s1474-4422(13)70136-4 · Cited by 405
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity
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Primary cilia in neurodevelopmental disorders
Valente, E. M., Rosti, R. O., Gibbs, E., & Gleeson, J. G. (2014) · Nature Reviews Neurology · doi:10.1038/nrneurol.2013.247 · Cited by 254
Congenital Abnormalities of the Posterior Fossa
Bosemani, T., Orman, G., Boltshauser, E., Tekes, A., Huisman, T. A. G. M., & Poretti, A. (2015) · Radiographics · doi:10.1148/rg.351140038 · Cited by 193
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Metadata
- Authors
- Poretti, A., Huisman, T. A. G. M., Scheer, I., & Boltshauser, E.
- Affiliations
- University Children's Hospital Zurich (CH)
- Johns Hopkins University (US)
- University of Zurich (CH)
- Venue
- American Journal of Neuroradiology
- Published
- 2011-06-16
- Volume
- 32
- Issue
- 8
- Pages
- 1459-1463
- ISSN
- 0195-6108 (ISSN-L)
- 1936-959X
- PMC
- PMC7964342
- OpenAlex
- W2108545390
- Cited by
- 161
- References
- 18
- Citations by year
- 2026: 8 · 2025: 8 · 2024: 4 · 2023: 10 · 2022: 11 · 2021: 12 · 2020: 9 · 2019: 8 · 2018: 3 · 2017: 12 · 2016: 20 · 2015: 17 · 2014: 20 · 2013: 8 · 2012: 8
- FWCI
- 10.96
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- cc-by
- Locations
- American Journal of Neuroradiology (publishedVersion, cc-by)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Science Foundation
- Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung
- Topics
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Fetal and Pediatric Neurological Disorders
- Health Sciences › Medicine › Clinical Neurology › Spinal Dysraphism and Malformations
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Kidney Cyst Diseases
- Keywords
- Joubert syndrome, Joubert syndrome-related disorders, fourth ventricle enlargement, hippocampal malrotation, callosal dysgenesis, ventriculomegaly, cerebellar vermis
- MeSH terms
- Abnormalities, Multiple, Adolescent, Adult, Cerebellar Diseases, Cerebellum, Child, Child, Preschool, Eye Abnormalities, Humans, Infant, Infant, Newborn, Retina, Retrospective Studies, Kidney Diseases, Cystic, Young Adult, Neuroimaging
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