ArticleEuropean journal of human genetics : EJHG2016
Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome).
Article in European journal of human genetics : EJHG, 2016. 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, 59 citations in OpenAlex.
- Hereditary spastic paraplegia in three siblings with distinct genetic mutations.The Journal of international medical research · 2026Article
- Novel LAMA1 Mutations in a Pedigree With Poretti-Boltshauser Syndrome: Implications for Hypomyelination.Molecular genetics & genomic medicine · 2026Article
- Clinical and genomic characterization of corpus callosum abnormalities (CCA) in 107 Tunisian patients using a stepwise diagnostic approach.Frontiers in genetics · 2026Article
- Genetic Insights in Hindbrain Abnormalities Through Network Analysis Expose Key Biological Pathways in Hindbrain Development.Cerebellum (London, England) · 2025Article
- Poretti-Boltshauser Syndrome in a Toddler: Novel Neuroimaging Features and Clinical Presentation.Cureus · 2025Article
- A Review of the Ocular Phenotype and Correlation with Genotype in Poretti-Boltshauser Syndrome.Medicina (Kaunas, Lithuania) · 2025Review
- Phenotypic variability in two siblings with Poretti-Boltshauser syndrome.Global medical genetics · 2025Article
- Poretti-Boltshauser Syndrome: A Report of Two Cases From Bahrain With a Novel Mutation and Literature Review.Cureus · 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
- Rapid exome sequencing in critically ill infants: implementation in routine care from French regional hospital's perspective.European journal of human genetics : EJHG · 2022Article
- NGS in Hereditary Ataxia: When Rare Becomes Frequent.International journal of molecular sciences · 2021Article
- Diagnostic Approach to Cerebellar Hypoplasia.Cerebellum (London, England) · 2021Review
- Article
- Cerebellar dysplasia related to PIK3CA mutation: a three-case series.Neurogenetics · 2021Article
- An Early Diagnostic Clue forFrontiers in cell and developmental biology · 2021Article
- Identification ofBrain communications · 2021Article
- Understanding What You Have Found: A Family With a Mutation in theClinical medicine insights. Case reports · 2020Article
- Identification of a likely pathogenic structural variation in theNPJ genomic medicine · 2020Article
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Authors and funding
30 authors at 20 institutions in 5 countries.
Funding
Abstract
Cerebellar dysplasia with cysts and abnormal shape of the fourth ventricle, in the absence of significant supratentorial anomalies and of muscular involvement, defines recessively inherited Poretti-Boltshauser syndrome (PBS). Clinical features comprise non-progressive cerebellar ataxia, intellectual disability of variable degree, language impairment, ocular motor apraxia and frequent occurrence of myopia or retinopathy. Recently, loss-of-function variants in the LAMA1 gene were identified in six probands with PBS. Here we report the detailed clinical, neuroimaging and genetic characterization of 18 PBS patients from 15 unrelated families. Biallelic LAMA1 variants were identified in 14 families (93%). The only non-mutated proband presented atypical clinical and neuroimaging features, challenging the diagnosis of PBS. Sixteen distinct variants were identified, which were all novel. In particular, the frameshift variant c.[2935delA] recurred in six unrelated families on a shared haplotype, suggesting a founder effect. No LAMA1 variants could be detected in 27 probands with different cerebellar dysplasias or non-progressive cerebellar ataxia, confirming the strong correlate between LAMA1 variants and PBS.
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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.