Clinical and Genetic Spectrum of VPS13A Disease Across India: A Retrospective Multicentre Genetically Confirmed Cohort
References
- Walker R, Saiki S, Danek A. Neuroacanthocytosis Syndromes – A Current Overview. 2007; pp. 3–20. DOI: 10.1007/978-3-540-71693-8_1
- Jung HH, Danek A, Walker RH. Neuroacanthocytosis syndromes. Orphanet J Rare Dis. 2011;6:68. PubMed PMID: 22027213; PubMed Central PMCID: PMC3212896. DOI: 10.1186/1750-1172-6-68
- Peikert K, Danek A, Hermann A. Current state of knowledge in Chorea-Acanthocytosis as core Neuroacanthocytosis syndrome. Eur J Med Genet. 2018;61:699–705. PubMed PMID: 29253590. DOI: 10.1016/j.ejmg.2017.12.007
- Nishida Y, Nakamura M, Urata Y, Kasamo K, Hiwatashi H, Yokoyama I, et al. Novel pathogenic VPS13A gene mutations in Japanese patients with chorea-acanthocytosis. Neurol Genet. 2019;5:
e332 . PubMed PMID: 31192303. PubMed Central PMCID: PMC6515943. DOI: 10.1212/NXG.0000000000000332 - Dobson-Stone C, Danek A, Rampoldi L, Hardie RJ, Chalmers RM, Wood NW, et al. Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis. Eur J Hum Genet EJHG. 2002;10:773–781. PubMed PMID: 12404112. DOI: 10.1038/sj.ejhg.5200866
- Benninger F, Afawi Z, Korczyn AD, Oliver KL, Pendziwiat M, Nakamura M, et al. Seizures as presenting and prominent symptom in chorea-acanthocytosis with c.2343del VPS13A gene mutation. Epilepsia. 2016;57:549–556. PubMed PMID: 26813249. DOI: 10.1111/epi.13318
- Abbas MM, Thenral S, Ramprasad VL, Walker RH, Kukkle PL. Chorea-acanthocytosis: 3 New Families with Novel Genetic and Metabolic Findings. Ann Indian Acad Neurol. 2021;24:452–456. PubMed PMID: 34447025; PubMed Central PMCID: PMC8370142. DOI: 10.4103/aian.AIAN_215_20
- Chaudhari S, Ware AP, Jasti DB, Gorthi SP, Acharya LP, Bhat M, et al. Exome sequencing of choreoacanthocytosis reveals novel mutations in VPS13A and co-mutation in modifier gene(s). Mol Genet Genomics MGG. 2023;298:965–976. PubMed PMID: 37209156. PubMed Central PMCID: PMC10227119. DOI: 10.1007/s00438-023-02032-2
- Saibaba J, Narayan SK, Sugumaran R, Gomathy SB, Mallikarjuna M, Amalnath D. Clinico-genetic profile of case series of six Tamilian chorea-acanthocytosis families with VPS13A mutations from South India. Parkinsonism Relat Disord. 2025;137:107917. PubMed PMID: 40554046. DOI: 10.1016/j.parkreldis.2025.107917
- Kashyap M, Medhi G. A Sporadic Case of Chorea-Acanthocytosis with Novel VPS13A Gene Variants. Ann Indian Acad Neurol. 2026;29:462–463. PubMed PMID: 41876399; PubMed Central PMCID: PMC13349242. DOI: 10.4103/aian.aian_1012_25
- von Elm E, Altman DG, Egger M, Pocock SJ, Gøtzsche PC, Vandenbroucke JP, et al. The Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) statement: guidelines for reporting observational studies. J Clin Epidemiol. 2008;61:344–349. PubMed PMID: 18313558. DOI: 10.1016/j.jclinepi.2007.11.008
- Sugumaran R, Bhuvaneswaran R. A Man With Progressive Chorea and Abnormal Trunk Movements. Cureus. 2024;16:
e62004 . PubMed PMID: 38989367; PubMed Central PMCID: PMC11233200. DOI: 10.7759/cureus.62004 - 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® [Internet]. Seattle, WA: University of Washington, Seattle; 1993 [cited 2026 Sep 1]. Available from:https://www.ncbi.nlm.nih.gov/books/NBK1387/ PubMed PMID: 20301561. - Walker RH. Management of Neuroacanthocytosis Syndromes. Tremor Hyperkinetic Mov. 2015;5:346. PubMed PMID: 26504667; PubMed Central PMCID: PMC4613733. DOI: 10.5334/tohm.274
- Tomiyasu A, Nakamura M, Ichiba M, Ueno S, Saiki S, Morimoto M, et al. Novel pathogenic mutations and copy number variations in the VPS13A gene in patients with chorea-acanthocytosis. Am J Med Genet Part B Neuropsychiatr Genet Off Publ Int Soc Psychiatr Genet. 2011;156B:620–631. PubMed PMID: 21598378. DOI: 10.1002/ajmg.b.31206
- Hoe RHM, Zhao Y, Ong HL, Tay KSS, Tan NCK, Khor MJY, et al. Novel Biallelic Synonymous Exonic Variant in VPS13A Affecting mRNA Splicing. Neurol Genet. 2024;10:
e200207 . PubMed PMID: 39588054. PubMed Central PMCID: PMC11588019. DOI: 10.1212/NXG.0000000000200207 - Alluqmani M, Iqbal S, Basit S. A novel cryptic splice donor due to synonymous variant in VPS13A as an underlying cause of a chorea-acanthocytosis in a large family. Heliyon. 2024;10:
e39128 . PubMed PMID: 39640746; PubMed Central PMCID: PMC11620108. DOI: 10.1016/j.heliyon.2024.e39128 - Dobson-Stone C, Velayos-Baeza A, Filippone LA, Westbury S, Storch A, Erdmann T, et al. Chorein detection for the diagnosis of chorea-acanthocytosis. Ann Neurol. 2004;56:299–302. PubMed PMID: 15293285. DOI: 10.1002/ana.20200
- Weber J, Frings L, Rijntjes M, Urbach H, Fischer J, Weiller C, et al. Chorea-Acanthocytosis Presenting as Autosomal Recessive Epilepsy in a Family With a Novel VPS13A Mutation. Front Neurol. 2019;9:1168. PubMed PMID: 30687222. PubMed Central PMCID: PMC6334619. DOI: 10.3389/fneur.2018.01168
- Faye F, Crocione C, Anido de Peña R, Bellagambi S, Escati Peñaloza L, Hunter A, et al. Time to diagnosis and determinants of diagnostic delays of people living with a rare disease: results of a Rare Barometer retrospective patient survey. Eur J Hum Genet EJHG. 2024;32:1116–1126. PubMed PMID: 38755315. PubMed Central PMCID: PMC11369105. DOI: 10.1038/s41431-024-01604-z
- Benito-Lozano J, Arias-Merino G, Gómez-Martínez M, Ancochea-Díaz A, Aparicio-García A, Posada de la Paz M, et al. Diagnostic Process in Rare Diseases: Determinants Associated with Diagnostic Delay. Int J Environ Res Public Health. 2022;19:6456. PubMed PMID: 35682039. PubMed Central PMCID: PMC9180264. DOI: 10.3390/ijerph19116456
- Walterfang M, Looi JC, Styner M, Walker RH, Danek A, Neithammer M, et al. SHAPE ALTERATIONS IN THE STRIATUM IN CHOREA-ACANTHOCYTOSIS. Psychiatry Res. 2011;192:29–36. PubMed PMID: 21377843. PubMed Central PMCID: PMC3324182. DOI: 10.1016/j.pscychresns.2010.10.006
- Kinnunen KM, Schwarz AJ, Turner EC, Pustina D, Gantman EC, Gordon MF, et al. Volumetric MRI-Based Biomarkers in Huntington’s Disease: An Evidentiary Review. Front Neurol. 2021;12:712555. PubMed PMID: 34621236. PubMed Central PMCID: PMC8490802. DOI: 10.3389/fneur.2021.712555
- Tanaka M, Hirai S, Kondo S, Sun X, Nakagawa T, Tanaka S, et al. Cerebral hypoperfusion and hypometabolism with altered striatal signal intensity in chorea-acanthocytosis: a combined PET and MRI study. Mov Disord Off J Mov Disord Soc. 1998;13:100–107. PubMed PMID: 9452334. DOI: 10.1002/mds.870130121
- Niemelä V, Salih A, Solea D, Lindvall B, Weinberg J, Miltenberger G, et al. Phenotypic variability in chorea-acanthocytosis associated with novel VPS13A mutations. Neurol Genet. 2020;6:
e426 . PubMed PMID: 32494755. PubMed Central PMCID: PMC7217656. DOI: 10.1212/NXG.0000000000000426 - Ehrlich DJ, Walker RH. Functional neuroimaging and chorea: a systematic review. J Clin Mov Disord. 2017;4:8. PubMed PMID: 28649394; PubMed Central PMCID: PMC5479019. DOI: 10.1186/s40734-017-0056-0
- Rampoldi L, Danek A, Monaco AP. Clinical features and molecular bases of neuroacanthocytosis. J Mol Med. 2002;80:475–491. PubMed PMID: 12185448. DOI: 10.1007/s00109-002-0349-z
- Storch A, Kornhass M, Schwarz J. Testing for acanthocytosis A prospective reader-blinded study in movement disorder patients. J Neurol. 2005;252:84–90. PubMed PMID: 15654559. DOI: 10.1007/s00415-005-0616-3
DOI: https://doi.org/10.5334/tohm.1276 | Journal eISSN: 2160-8288
Language: English
Page range: 56 - 56
Submitted on: Jul 27, 2026
Accepted on: Sep 27, 2026
Published on: Oct 12, 2026
Published by: Ubiquity Press
In partnership with: Paradigm Publishing Services
© 2026 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 by Ubiquity Press
This work is licensed under the Creative Commons Attribution 4.0 License.