Expression patterns of ataxia-associated genes during human cerebellum development

Abstract

Ataxias are a heterogeneous group of neurological disorders, most commonly arising from dysfunction or degeneration of the cerebellum, a part of the brain that plays critical roles in motor control. Many forms of ataxia have genetic causes and more than a hundred genes are considered to be associated with hereditary ataxias. This study explores the expression patterns of ataxia-associated genes during human cerebellum development, using bulk and single-nucleus RNA-sequencing datasets. Results demonstrate that ataxia-associated genes show higher expression during cerebellum development compared to other organs. The expression of these genes increases during cerebellar development and cellular differentiation, and is particularly high in Purkinje cells. Genes associated with autosomal dominant ataxias show greater cerebellar and Purkinje cell specificity compared with genes associated with autosomal recessive ataxias. These findings contribute to our understanding of the developmental and cell type-specific mechanisms underlying ataxias.