Unraveling ataxia: case report with pathogenic heterozygosity for STUB1

Introduction: Spinocerebellar ataxias (SCAs) are neurodegenerative diseases characterized by progressive cerebellar ataxia, often associated with ophthalmoplegia, pyramidal signs, movement disorders, and cognitive alterations. The most common types include SCA type 3 (Machado-Joseph disease), type 10, and others. This clinical case describes a patient with phonoarticulatory alterations and motor difficulties that led to the investigation of diffuse cerebellar atrophy. Objective: The aim of this study was to report a case of SCA and emphasize the importance of systematic genetic testing. Methods: study with descriptive design, without a control group, of a narrative and reflective nature, whose data come from the analysis of medical records Clinical history: A 45-year-old patient presented with cerebellar dysarthria and writing difficulties 4 years ago. She rejects dysphagia, diplopia, and tremors, without gait alterations. In recent years, excessive repetitions and mood swings have been noted. Magnetic resonance imaging revealed diffuse cerebellar atrophy, while laboratory tests, including cerebrospinal fluid analysis, showed normal results. The patient reported worsening balance and gait, with worsening speech and writing complaints. Discussion: Cerebellar disorder, motor and cognitive functions. Genetic investigation revealed pathogenic heterozygosity for the STUB1 gene, associated with Spinocerebellar Ataxia 48 (SCA48) and Autosomal Recessive Spinocerebellar Ataxia 16 (SCAR16). SCAR16 is characterized by early-onset spastic ataxia, while SCA48 has adult-onset, with cognitive and psychiatric implications. Both have clinical overlap. Conclusion: A clinical algorithm can aid in screening for genetic testing, facilitating etiological investigation. A multidisciplinary approach is crucial for symptom management and patient quality of life. The autosomal dominant inheritance pattern requires genetic counseling for the patient and her family. Neuropsychological rehabilitation, physical therapy and occupational therapy are beneficial.