DHTKD1 exon deletion associated with sporadic cerebellar ataxia
This study is the first to link heterozygous DHTKD1 exon deletion with sporadic cerebellar ataxia. It not only established DHTKD1 as a novel potential pathogenic gene for hereditary ataxia but also highlighted the significant role of gene dosage effects and spatiotemporal expression patterns in determining complex neurological phenotypes, thereby expanding the recognized genetic heterogeneity of ataxia disorders.