{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T11:45:01Z","timestamp":1791805501832,"version":"4.3.4"},"reference-count":28,"publisher":"Ubiquity Press, Ltd.","license":[{"start":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T00:00:00Z","timestamp":1791763200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["TOHM"],"abstract":"<jats:p>Objectives: To characterize the geographic and molecular spectrum of genetically confirmed VPS13A disease across India and examine patterns of delay to tertiary evaluation.\nMethods: We conducted a multicentre retrospective study across eight tertiary movement disorder centres in India. Clinical, investigational, genetic, treatment, and follow-up data were collected.\nResults: 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.\nConclusion: 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.<\/jats:p>","DOI":"10.5334\/tohm.1276","type":"journal-article","created":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T10:39:24Z","timestamp":1791801564000},"page":"56","source":"Crossref","is-referenced-by-count":0,"title":["Clinical and Genetic Spectrum of &lt;i&gt;VPS13A&lt;\/i&gt;\u00a0Disease Across India: A Retrospective Multicentre Genetically Confirmed Cohort"],"prefix":"10.5334","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6639-3949","authenticated-orcid":false,"given":"Archita","family":"Makharia","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7934-8071","authenticated-orcid":false,"given":"Atif 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Kumar","family":"Srivastava","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0532-3370","authenticated-orcid":false,"given":"Divyani","family":"Garg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"3285","published-online":{"date-parts":[[2026,10,12]]},"reference":[{"key":"key20261012103919_B1","first-page":"3","year":"2007","journal-title":"Neuroacanthocytosis Syndromes \u2013 A Current Overview"},{"key":"key20261012103919_B2","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1186\/1750-1172-6-68","article-title":"Neuroacanthocytosis syndromes","volume":"6","year":"2011","journal-title":"Orphanet J Rare Dis"},{"key":"key20261012103919_B3","doi-asserted-by":"crossref","first-page":"699","DOI":"10.1016\/j.ejmg.2017.12.007","article-title":"Current state of knowledge in Chorea-Acanthocytosis as core Neuroacanthocytosis syndrome","volume":"61","year":"2018","journal-title":"Eur J Med Genet"},{"key":"key20261012103919_B4","article-title":"Novel pathogenic VPS13A gene mutations in Japanese patients with chorea-acanthocytosis","volume":"5","year":"2019","journal-title":"Neurol Genet"},{"key":"key20261012103919_B5","doi-asserted-by":"crossref","first-page":"773","DOI":"10.1038\/sj.ejhg.5200866","article-title":"Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis","volume":"10","year":"2002","journal-title":"Eur J Hum Genet EJHG"},{"key":"key20261012103919_B6","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1111\/epi.13318","article-title":"Seizures as presenting and prominent symptom in chorea-acanthocytosis with c.2343del VPS13A gene mutation","volume":"57","year":"2016","journal-title":"Epilepsia"},{"key":"key20261012103919_B7","doi-asserted-by":"crossref","first-page":"452","DOI":"10.4103\/aian.AIAN_215_20","article-title":"Chorea-acanthocytosis: 3 New Families with 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Variants","volume":"29","year":"2026","journal-title":"Ann Indian Acad Neurol"},{"key":"key20261012103919_B11","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1016\/j.jclinepi.2007.11.008","article-title":"The Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) statement: guidelines for reporting observational studies","volume":"61","year":"2008","journal-title":"J Clin Epidemiol"},{"key":"key20261012103919_B12","article-title":"A Man With Progressive Chorea and Abnormal Trunk Movements","volume":"16","year":"2024","journal-title":"Cureus"},{"key":"key20261012103919_B13","unstructured":"Peikert K, Dobson-Stone C, Rampoldi L, Miltenberger-Miltenyi G, Neiman A, De Camilli P, et al. VPS13A Disease. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews\u00ae [Internet]. Seattle, WA: University of Washington, Seattle; 1993 [cited 2026 Sep 1]. 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