Objective: The objective of this paper is to present the clinical, genetic findings, and inheritance pattern of a family with SCA.

Background: Spinocerebellar Ataxia (SCA) represents a rare and heterogeneous group of neurodegenerative disorders, typically characterized by the progressive loss of coordination of movement, resulting primarily from cerebellar dysfunction. This case series discusses the history, clinical presentation, and diagnostic findings of four family members who exhibited symptoms suggestive of SCA. The familial occurrence of the disease prompted further investigation of the patient and other relatives.

Method: not applicable

Results: Case Presentation: Our index case was a 36-year-old Filipino female with cerebellar dysfunction for over a decade. Cranial Magnetic Resonance Imaging (MRI) revealed cerebellar atrophy. Genetic Testing showed a Variant of Uncertain Significance (VUS) on the inositol 1,4,5-triphosphate receptor type 1 (ITPR1) gene. The findings were consistent with SCA 15, which is the first reported case in the Philippines and in Asia. A thorough family history revealed that 18 immediate and extended relatives exhibited similar symptoms. Ten family members had passed away, and four were unreachable for testing. Three of the relatives were assessed, revealing similar cerebellar signs and symptoms.

Conclusion: The findings from this case series suggest that SCA 15 may be present in Filipino families, with an autosomal dominant (AD) inheritance pattern. While no data on the prevalence or incidence of SCA15 in the Philippines currently exists, this report calls attention to the need for further research and genetic studies within the Filipino population.

« Back to 2025 International Congress

MDS Abstracts - https://www.mdsabstracts.org/abstract/spinocerebellar-ataxia-15-the-first-reported-case-of-sca15-in-asia-secondary-to-itpr1-gene-mutation/