Authors
Archita Makharia, Atif I Shaikh, Jacky Ganguly, Ayush Agarwal, Vijayashankar Paramanandam, Mitesh Chandarana, Soaham Desai, Vaibhav Mathur, Kartika Gulati, Sanjay Pandey, Hrishikesh Kumar, Achal Kumar Srivastava, Divyani Garg
Published in
Tremor and other hyperkinetic movements (New York, N.Y.). Volume 16. Pages 56. Epub Oct 12, 2026.
Abstract
To characterize the geographic and molecular spectrum of genetically confirmed VPS13A disease across India and examine patterns of delay to tertiary evaluation.
We conducted a multicentre retrospective study across eight tertiary movement disorder centres in India. Clinical, investigational, genetic, treatment, and follow-up data were collected.
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.
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.
PMID:
42891364
Bibliographic data and abstract were imported from PubMed on 18 Oct 2026.
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