This article discusses a case study of a Peruvian family with neurodegeneration with ataxia, dystonia, and gaze palsy (NADGP), a rare autosomal recessive disorder caused by variants in the SQSTM1 gene. The family had three affected siblings who experienced symptoms such as ataxia, dystonia, gaze palsy, learning difficulties, and myopathy. Whole genome sequencing was used to identify a novel disease-causing variant in the SQSTM1 gene. The study highlights the importance of genetic testing in diagnosing rare neurodegenerative disorders and contributes to a better understanding of the variable expressivity of NADGP. [Extracted from the article]