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

• Main Authors: Elham Salehi Siavashani (Author), Mahmoud Reza Ashrafi (Author), Homa Ghabeli (Author), Morteza Heidari (Author), Masoud Garshasbi (Author)
• Format: Book
• Published: BMC, 2023-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract 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...