Topic: SCA1

The spinocerebellar ataxia type1 (SCA1) is a progressive rare neurodegenerative disease commonly associated with impairment of motor coordination and movement control. The cerebellar Purkinje neuron, spinal cord, and its connective tissues are the predominant affecting brain regions. The molecular pathology underlying SCA1 is known as accumulation of poly-glutamine (polyQ) expansion in ATXN1 gene. The interaction between ATXN1 and CIC plays a pivotal role in the pathogenesis of SCA1, particularly in cerebellar Purkinje cells. Recent findings have demonstrated phenotypic rescue through a mutant

Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disease manifested by cerebellar disorders. Alongside cerebellar symptoms, individuals with SCA1 often exhibit a range of ophthalmic abnormalities, particularly those affecting the optic nerve and retina. However, the mechanisms underlying visual disturbances in SCA1 remain unclear.Therefore, in this study, we aimed to analyze the retinal cell layers of mice with SCA1.Sixteen eye samples were obtained from 6-month-old mice (8 from SCA1 mice and 8 from wild-type). The volume of the retina, as well as the volume and