Clinical and Genetic Spectrum of VPS13A Disease Across India: A Retrospective Multicentre Genetically Confirmed Cohort

Objectives: To characterize the geographic and molecular spectrum of genetically confirmed VPS13A disease across India and examine patterns of delay to tertiary evaluation.

Methods: We conducted a multicentre retrospective study across eight tertiary movement disorder centres in India. Clinical, investigational, genetic, treatment, and follow-up data were collected.

Results: Eighteen unrelated patients from eight tertiary centres were included. Chorea was the most common initial manifestation (10/18), and 8/18 patients were evaluated more than five years after symptom onset. Longer intervals to tertiary evaluation were descriptively more frequent among patients with non-choreic presentations, particularly seizures. Twenty-three distinct VPS13A variants were identified, predominantly loss-of-function variants, including apparently novel variants and two variants recurring in unrelated patients.

Conclusion: VPS13A disease in this multicentre Indian cohort demonstrated substantial molecular heterogeneity, including apparently novel and recurrent variants. Longer intervals to tertiary evaluation were descriptively more frequent among patients with non-choreic presentations, particularly those with seizures, highlighting that clinicians need to maintain a high degree of suspicion for VPS13A even in such presentations.