Joubert Syndrome and related disorders: spectrum of neuroimaging findings in 75 patients
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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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Several monogenic causes of ASD, including TSC and Joubert Syndrome, show abnormal axon path finding or migration abnormalities known to lead to altered brain structural connectivity.
“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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- 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 › Public Health, Environmental and Occupational Health › 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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