Objectives: Biallelic variants in Methods: Five affected individuals (4 from one family; 1 from a second family) were examined in our tertiary neurogenetics referral center. The core clinical manifestations consisted of a slowly progressive cerebellar ataxia, with subclinical evidence of sensorineural hearing loss and hypergonadotropic hypogonadism leading to premature ovarian failure in affected women. Genetic analysis was performed using a custom-targeted sequencing panel for genes associated with hereditary ataxias. Causative variants were confirmed by Sanger sequencing and segregated within the families. Peroxisomal investigations were performed on blood specimens. Results: In family A, the affected siblings born from consanguineous parents carried a novel homozygous Discussion: Our case series expand the phenotypic-genotypic spectrum of DBP deficiency and provide long-term follow-up data. While no disease-modifying treatments currently exist, diagnosis has implications for genetic counseling, particularly for reproductive planning in affected women.