ArticleGlobal medical genetics2025
Phenotypic variability in two siblings with Poretti-Boltshauser syndrome.
Article in Global medical genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- Hereditary spastic paraplegia in three siblings with distinct genetic mutations.The Journal of international medical research · 2026Article
- A Review of the Ocular Phenotype and Correlation with Genotype in Poretti-Boltshauser Syndrome.Medicina (Kaunas, Lithuania) · 2025Review
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Authors and funding
5 authors.
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Abstract
Introduction: Poretti-Boltshauser Syndrome (PBS) is a rare neuro-ophthalmological disorder with autosomal recessive inheritance. It is characterized by non-progressive cerebellar ataxia, delay in neuropsychomotor development, intellectual disability, and vision abnormalities. PBS is caused by mutations in the Case presentation: We present two siblings with Conclusion: This study highlights intrafamilial variability in patients with Poretti-Boltshauser Syndrome (PBS). Patient 1 exhibits more pronounced cerebellar dysplasia (with cysts) and oculomotor apraxia, while Patient 2 shows milder cerebellar dysplasia (without cysts) and a macular hole. These findings underscore the importance of comprehensive evaluation and genetic testing for accurate diagnosis and management of PBS.
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