Novel homozygous frameshift variant in the ATCAY gene in an Iranian patient with Cayman cerebellar ataxia; expanding the neuroimaging and clinical features: a case report

BACKGROUND: Pathogenic variants in the ATCAY gene are associated with a rare autosomal recessive disorder called Cayman cerebellar ataxia. Affected individuals display psychomotor retardation, cerebellar dysfunction, nystagmus, intention tremor, ataxic gait and dysarthric in some cases. CASE PRESENT...

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Detalles Bibliográficos
Autores principales: Siavashani, Elham Salehi, Ashrafi, Mahmoud Reza, Ghabeli, Homa, Heidari, Morteza, Garshasbi, Masoud
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10523697/
https://www.ncbi.nlm.nih.gov/pubmed/37752557
http://dx.doi.org/10.1186/s12920-023-01643-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10523697/
https://www.ncbi.nlm.nih.gov/pubmed/37752557
http://dx.doi.org/10.1186/s12920-023-01643-3

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