ArticleCerebellum (London, England)2014
Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease?
Article in Cerebellum (London, England), 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 54 citations in OpenAlex.
- Hereditary spastic paraplegia in three siblings with distinct genetic mutations.The Journal of international medical research · 2026Article
- Prenatal diagnosis of infratentorial anomalies: ultrasound, fetal MRI, and implications for counseling.Pediatric radiology · 2026Review
- Poretti-Boltshauser Syndrome in a Toddler: Novel Neuroimaging Features and Clinical Presentation.Cureus · 2025Article
- Phenotypic variability in two siblings with Poretti-Boltshauser syndrome.Global medical genetics · 2025Article
- Case Report: An Adult Case of Poretti-Boltshauser Syndrome Diagnosed by Medical Checkup.Cerebellum (London, England) · 2024Article
- World-Renowned "Swiss" Pediatricians, Their Syndromes, and Matching Imaging Findings: A Historical Perspective.Children (Basel, Switzerland) · 2023Review
- The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued.Orphanet journal of rare diseases · 2023Observational
- Identification ofBrain communications · 2021Article
- Identification of a likely pathogenic structural variation in theNPJ genomic medicine · 2020Article
- Healthcare recommendations for Joubert syndrome.American journal of medical genetics. Part A · 2020Review
- Beyond the panel: preconception screening in consanguineous couples using the TruSight One "clinical exome".Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Cerebellar involvement in warts Hypogammaglobulinemia immunodeficiency myelokathexis patients: neuroimaging and clinical findings.Orphanet journal of rare diseases · 2019Article
- Cerebellar Bottom-of-Fissure Dysplasia-a Novel Cerebellar Gray Matter Neuroimaging Pattern.Cerebellum (London, England) · 2016Article
- The genetics of cerebellar malformations.Seminars in fetal & neonatal medicine · 2016Review
- Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome).European journal of human genetics : EJHG · 2016Article
- Nosological delineation of congenital ocular motor apraxia type Cogan: an observational study.Orphanet journal of rare diseases · 2016Observational
- Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects.Journal of medical genetics · 2016Article
- Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes.Journal of medical genetics · 2015Article
- Cerebellar cysts in children: a pattern recognition approach.Cerebellum (London, England) · 2015Review
- Infantile-onset saccade initiation delay (congenital ocular motor apraxia).Current neurology and neuroscience reports · 2015Article
Corrections and comments
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Authors and funding
15 authors at 9 institutions in 6 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cerebellar cysts are rare findings in pediatric neuroimaging and rather characteristic for dystroglycanopathies and GPR56-related encephalopathy. We aim to report on seven children with cerebellar cysts showing absence of weakness and ruling out mutations within eight dystroglycanopathy genes and GPR56. Data about neurological and ophthalmological features, outcome, and creatine kinase values were collected from clinical histories and follow-up examinations. All MR images were qualitatively evaluated for infra- and supratentorial abnormalities. A SNP 6.0-Array was performed in three children. The POMT1, POMT2, POMGnT1, FKRP, FKTN, LARGE, ISPD, B3GALNT2, and GPR56 genes were screened in all patients by Sanger sequencing. Seven children from five families were studied. Ataxia, intellectual disability, and language impairment were found in all patients, ocular motor apraxia in five, and severe myopia in three. None of the patients had weakness, only three a minimally increased creatine kinase value. Qualitative neuroimaging evaluation showed cerebellar cysts and dysplasia in the cerebellar hemispheres and vermis in all children. Additional findings were an enlarged fourth ventricle in all children, vermian hypoplasia and brain stem morphological abnormalities in five. The SNP array showed no pathogenetic imbalances in all children evaluated. In all patients, no mutations were found in POMT1, POMT2, POMGnT1, FKRP, FKTN, LARGE, ISPD, B3GALNT2, and GPR56. The peculiar combination of the same clinical and neuroimaging findings in our patients highly suggests that this phenotype may represent a novel entity, possibly falling within the spectrum of dystroglycanopathies.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.