Clinical case report: Chorea-acanthocytosis of the c.9109 C>T variant in the VPS13A gene

Clinical case report: Chorea-acanthocytosis of the c.9109 C>T variant in the VPS13A gene | Research Square window.SnipcartSettings = { analytics: { enabled: false } }; (function() { var accessVector = localStorage.getItem('access_vector') || ''; window.dataLayer = window.dataLayer || []; if (accessVector) { window.dataLayer.push({ user: { profile: { profileInfo: { snid: accessVector } } } }); } })(); (function(w,d,s,l,i){w[l]=w[l]||[];w[l].push({'gtm.start':new Date().getTime(),event:'gtm.js'});var f=d.getElementsByTagName(s)[0],j=d.createElement(s),dl=l!='dataLayer'?'&l='+l:'';j.async=true;j.src='https://www.googletagmanager.com/gtm.js?id='+i+dl;f.parentNode.insertBefore(j,f);})(window,document,'script','dataLayer','GTM-K279D39R'); Browse Preprints In Review Journals COVID-19 Preprints AJE Video Bytes Research Tools Research Promotion AJE Professional Editing AJE Rubriq About Preprint Platform In Review Editorial Policies Our Team Advisory Board Help Center Sign In Submit a Preprint Cite Share Download PDF Case Report Clinical case report: Chorea-acanthocytosis of the c.9109 C>T variant in the VPS13A gene Algara-Ramirez Carolina, Herrera-Castillero Zairid, Rodriguez-Hernandez Mariana, and 1 more This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-8928689/v1 This work is licensed under a CC BY 4.0 License Status: Under Revision Version 1 posted 10 You are reading this latest preprint version Abstract Background Neuroacanthocytosis is a rare genetic condition that leads to progressive neurological decline and the presence of misshapen red blood cells (acanthocytes). Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis and may present as multiple phenotypes where the main clinical manifestation is involuntary movements, which may be accompanied by neuropathy, psychiatric symptoms, neurocognitive degeneration, and seizures. Case presentation We present the first clinical case of a C.9109 C > T genetic variant in the VPS13A gene in Mexico. The case described involves a 33-year old woman with isolated episodes of dizziness, musculoskeletal pain, tonic-clonic seizures, feeding dystonia, and involuntary oromandibular and limb movements. The peripheral blood presents acanthocytes and high levels of CPK. These findings led to a request for a molecular evaluation of VPS13A finding a genetic variant C.9109>T. Conclusions This report will provide information regarding this novel alteration in our country and to highlight the importance of an early diagnosis which greatly favors a positive outcome of symptomatic management and provides a better quality of life for patients. Corea Neuroacanthocytosis VPS13A C.9109 genetic variant Figures Figure 1 Figure 2 Background Neuroacanthocytosis is a genetic disorder characterized by a progressive neurological decline and the presence of acanthocytes. It is extremely rare, with an estimated prevalence of less than 1 per 1,000,000 individuals worldwide. There are different presentations: chorea-acanthocytosis (ChAc), McLeod syndrome, Huntington like-disease 2, pantothenate kinase-associated neurodegeneration, HARP Syndrome, abetalipoproteinemia, hereditary hypobetalipoproteinemia and aceruloplasminemia. Among these, chorea-acanthocytosis is the most frequent form, accounting for approximately 60% of cases, with fewer than 1,000 patients reported globally [ 1 ]. ChAc has different genetic variants in the Vacuolar Protein Sorting 13 Homolog A ( VPS13A ) gene 43 and is inherited in an autosomal recessive manner. However, an apparent autosomal dominant pattern may be observed, as disease causing variants can occur in either a homozygous or compound heterozygous state [ 2 , 3 , 4 ]. The VPS13A gene encodes a 360-kDa protein called chorein, whose precise biological function remains incompletely understood. Chorein is believed to be involved in intracellular trafficking from the trans-Golgi network to endosomes, as well as in phagocytosis and dopamine release. It is localized in the Golgi apparatus, synaptosomes, and in the membrane of the erythrocytes [ 5 , 6 , 7 , 8 ]. The clinical phenotype of ChAc is characterized by involuntary movements, such as chorea, orolingual dyskinesia, dysphagia, dysarthria, areflexia, epileptic seizures, psychiatric disorders, cognitive impairment, and Parkinsonism. [ 3 , 9 , 10 ]. Laboratory findings typically include elevated creatine kinase and serum transaminase levels and occasional acanthocytosis [ 3 ]. Several functional neuroimaging studies have reported glucose hypometabolism in the basal ganglia and increased F-fluorodeoxyglucose uptake in the pituitary gland on PET/CT [ 9 ]. MRI revealed mild bilateral caudate, striatum, and hippocampal atrophy, particularly in the presence of epilepsy. EEG frequently demonstrates bitemporal slowing [ 11 , 12 ]. Additionally, damage ganglia involvement is responsible for the characteristic involuntary movements observed in this disorder [ 12 ]. The main causes of mortality in ChAc are aspiration pneumonia (21.8%), sudden unexplained death (18.7%), cardiovascular disease (15.6%), and suicide attempts (12.5%) [ 13 ]. Treatment is primarily symptomatic and may include deep brain stimulation (DBS) of the posteroventrolateral portion of the globus pallidus internus. Although DBS often shows an excellent initial response, its effectiveness may decrease over time, particularly chorea and dystonia [ 14 , 15 ]. Although the C.9109 C > T genetic variant in VPS13A has been observed in other countries, this is the first documented case of this genetic variant in Mexico. This variant is associated with the development of neuroacanthocytosis. The objective of this article is to report this genetic variant in a Mexico patient, highlight its clinical manifestations, and emphasize the importance of considering ChAc in the differential diagnosis of movement disorders. Early recognition may allow timely intervention and improved clinical outcomes. A 33-year old woman with no family history of chorea or other movement disorders, and an otherwise unremarkable medical history, presented with mild unsteadiness and clumsiness of insidious onset, beginning five years before her first consultation. She initially developed subacute gait impairment due to impaired of podalic coordination, along with dystonia of the right foot. Around a year after onset, she experienced generalized tonic-clonic seizures. She later developed marked orolingual dystonic movements that worsened with prolonged speech and during feeding, which conditioned weight loss. Subsequently, the seizures recurred, and a focal onset was suspected due to involuntary facial movements, cessation of behavior, and progressive generalized tonic-clonic seizures. Timeline Diagnostic Assessment Our patient presents with acanthocytes in the peripheral blood, as shown in Fig. 2 , and high levels of CPK. These findings led to a request for a molecular evaluation of VPS13A and other genes associated with neuroacanthocytosis. Genetic variant c.9109 > T (p.Arg3037*) was found in our patient in a heterozygous state; this situation is frequent since the other variant of the supplementary allele could be found in the intrinsic region. MRIs of the patient performed in 2021 and subsequently in 2022 showed a slight flattening of the caudate nuclei; other than that they appeared normal. Additionally, we requested an electroencephalogram to reassess the results obtained during subsequent appointments. Therapeutic Intervention Currently, our patient is on protocol to determine if she is a candidate for deep brain stimulation. Corresponding author: Algara-Ramírez Carolina mail: [email protected] ORCID: https://orcid.org/0009-0008-2314-0774 Abbreviations Case presentation A 33-year old woman with no family history of chorea or other movement disorders, and an otherwise unremarkable medical history, presented with mild unsteadiness and clumsiness of insidious onset, beginning five years before her first consultation. She initially developed subacute gait impairment due to impaired of podalic coordination, along with dystonia of the right foot. Around a year after onset, she experienced generalized tonic-clonic seizures. She later developed marked orolingual dystonic movements that worsened with prolonged speech and during feeding, which conditioned weight loss. Subsequently, the seizures recurred, and a focal onset was suspected due to involuntary facial movements, cessation of behavior, and progressive generalized tonic-clonic seizures. 1. Timeline Diagnostic Assessment Our patient presents with acanthocytes in the peripheral blood, as shown in Fig2 , and high levels of CPK. These findings led to a request for a molecular evaluation of VPS13A and other genes associated with neuroacanthocytosis. Genetic variant c.9109>T (p.Arg3037*) was found in our patient in a heterozygous state; this situation is frequent since the other variant of the supplementary allele could be found in the intrinsic region. MRIs of the patient performed in 2021 and subsequently in 2022 showed a slight flattening of the caudate nuclei; other than that they appeared normal. Additionally, we requested an electroencephalogram to reassess the results obtained during subsequent appointments. Therapeutic Intervention Currently, our patient is on protocol to determine if she is a candidate for deep brain stimulation. Discussion Chorea-acanthocytosis is a severely under-diagnosed and under-recognized neurogenetic disorder, largely due to its rarity, heterogeneous presentation and overlap with other movement disorders. It is a rare disease that has not been reported in Mexican literature, contributing to delayed diagnosis and suboptimal management. The clinical presentation in our patient is consistent with previously reported phenotypes, including progressive gait impairment, dystonia, epilepsy, and prominent orolingual involvement. Feeding dystonia and orolingual dyskinesia are particularly disabling manifestations, often leading to malnutrition and weight loss, as observed in this case. These features should raise clinical suspicion for ChAc, especially when accompanied by seizures and elevated CPK levels. Epilepsy is a well recognized feature of ChAc and may precede or follow the onset of movement disorders. The presence of focal semiology evolving into generalized tonic-clonic seizures, as seen in our patient, aligns with existing literature and underscores the importance of comprehensive neurological evaluation. It is also essential to enhance the identification of VPS13A , with particular emphasis on the detection of the C.9109 > T variant. This underscores the need for advanced molecular molecular techniques and careful clinical-genetic correlation. Finally, this case emphasizes the importance of genetic counseling and family screening, as early identification of at-risk individuals may allow anticipatory guidance and improved long-term outcomes. Moreover, it highlights the critical role of genetic testing in Latin America, particularly in Mexico, where access to advanced molecular diagnostics remains limited and underutilized. Reporting pathogenic VPS13A variants in this region may contribute to increased awareness, improved diagnostic strategies, and the development of region-specific genetic databases. Increased awareness among clinicians is essential to promote timely diagnosis and appropriate referral for multidisciplinary management, including consideration of neuromodulatory therapies. Conclusion This report contributes to the limited literature on chorea-acanthocytosis in Mexico by documenting the c.9109C > T variant in the VPS13A gene. Early recognition of this disorder and its diverse manifestations is critical, as timely diagnosis may favorably influence disease management and progression. Incorporating ChAc into the differential diagnosis of movement disorders with epilepsy and elevated muscle enzymes may enhance diagnostic accuracy and patient care. Abbreviations ChAc : Chorea-acanthocytosis VPS13A: Vacuolar Protein Sorting 13 Homolog A DBS: Deep Brain Stimulation Declarations Clinical trial number Not applicable Funding This work did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors. Ethics approval and consent to participate As this work reports a single anonymized clinical case, ethics committee approval was not required according to the institutional policy . Consent for publication Written informed consent for publication of the case details and any accompanying images was obtained from the patient. Conflict of interest The authors declare no competing interests. Informed consent Author Contribution C.A., Z.H. and M.R. wrote the main manuscript text. M.R. prepared the figure 1. A.C. provide all the clinical data and figure 2. All authors reviewed the manuscript. References Benninger F, Afawi Z, Korczyn AD, Oliver KL, Pendziwiat M, Nakamura M, Sano A, Helbig I, Berkovic SF, Blatt I. Seizures as presenting and prominent symptom in chorea-acanthocytosis with c.2343del VPS13A gene mutation. Epilepsia. 2016;57(4):549–56. https://doi.org/10.1111/epi.13318 . Cui R, You H, Niu N, Li F. FDG PET brain scan demonstrated glucose hypometabolism of bilateral caudate nuclei and putamina in a patient with chorea-acanthocytosis. Clin Nucl Med. 2015;40(12):979–80. https://doi.org/10.1097/RLU.0000000000000968 . Feriante J, Gupta V. Neuroacanthocytosis. Treasure Island (FL): StatPearls Publishing; 2022. Miquel M, Spampinato U, Latxague C, Aviles-Olmos I, Bader B, Bertram K, Bhatia K, Burbaud P, Burghaus L, Cho JW, Cuny E, Danek A, Foltynie T, Garcia Ruiz PJ, Giménez-Roldán S, Guehl D, Guridi J, Hariz M, Jarman P, Tison F. Short and long term outcome of bilateral pallidal stimulation in chorea-acanthocytosis. PLoS ONE. 2013;8(11):e79241. https://doi.org/10.1371/journal.pone.0079241 . Peikert K, Danek A, Hermann A. Current state of knowledge in chorea-acanthocytosis as core neuroacanthocytosis syndrome. Eur J Med Genet. 2018;61(11):699–705. https://doi.org/10.1016/j.ejmg.2017.12.007 . Peluso S, Bilo L, Esposito M, Antenora A, De Rosa A, Pappatà S, De Michele G. Chorea-acanthocytosis without chorea: Expanding the clinical phenotype. Parkinsonism Relat Disord. 2017;41:124–6. https://doi.org/10.1016/j.parkreldis.2017.05.013 . Shiokawa N, Nakamura M, Sameshima M, Deguchi A, Hayashi T, Sasaki N, Sano A. Chorein, the protein responsible for chorea-acanthocytosis, interacts with β-adducin and β-actin. Biochem Biophys Res Commun. 2013;441(1):96–101. https://doi.org/10.1016/j.bbrc.2013.10.011 . Siegl C, Hamminger P, Jank H, Ahting U, Bader B, Danek A, Gregory A, Hartig M, Hayflick S, Hermann A, Prokisch H, Sammler EM, Yapici Z, Prohaska R, Salzer U. Alterations of red cell membrane properties in neuroacanthocytosis. PLoS ONE. 2013;8(10):e76715. https://doi.org/10.1371/journal.pone.0076715 . Suzuki F, Sato N, Sugiyama A, Iijima K, Shigemoto Y, Morimoto E, Kimura Y, Fujii H, Takahashi Y, Nakata Y, Matsuda H, Abe O. Chorea-acanthocytosis: Time-dependent changes of symptoms and imaging findings. J Neuroradiol. 2021;48(6):419–24. https://doi.org/10.1016/j.neurad.2019.11.006 . Vaisfeld A, Bruno G, Petracca M, Bentivoglio AR, Servidei S, Vita MG, Bove F, Straccia G, Dato C, Di Iorio G, Sampaolo S, Peluso S, De Rosa A, De Michele G, Barghigiani M, Galatolo D, Tessa A, Santorelli F, Chiurazzi P, Melone MAB. Neuroacanthocytosis syndromes in an Italian cohort: Clinical spectrum, high genetic variability and muscle involvement. Genes. 2021;12(3):344. https://doi.org/10.3390/genes12030344 . Verkkoniemi-Ahola A, Kuuluvainen L, Kivirikko S, Myllykangas L, Pöyhönen M. Chorea-acanthocytosis associated with two novel heterozygous mutations in the VPS13A gene. J Neurol Sci. 2020;408:116555. https://doi.org/10.1016/j.jns.2019.116555 . Walker RH. Management of neuroacanthocytosis syndromes. Tremor Other Hyperkinet Mov (N Y) . 2015;5:346. https://doi.org/10.7916/D8W66K48 Walker RH, Danek A. Neuroacanthocytosis—overdue for a taxonomic update. Tremor Other Hyperkinet Mov (N Y). 2021;11(1):1. https://doi.org/10.5334/tohm.583 . Walker RH, Miranda M, Jung HH, Danek A. Life expectancy and mortality in chorea-acanthocytosis and McLeod syndrome. Parkinsonism Relat Disord. 2019;60:158–61. https://doi.org/10.1016/j.parkreldis.2018.09.003 . Yeshaw WM, van der Zwaag M, Pinto F, Lahaye LL, Faber AI, Gómez-Sánchez R, Dolga AM, Poland C, Monaco AP, van IJzendoorn SC, Grzeschik NA, Velayos-Baeza A, Sibon OC. Human VPS13A is associated with multiple organelles and influences mitochondrial morphology and lipid droplet motility. eLife. 2019;8. https://doi.org/10.7554/eLife.43561 . Additional Declarations No competing interests reported. Cite Share Download PDF Status: Under Revision Version 1 posted Editorial decision: Revision requested 18 Apr, 2026 Reviews received at journal 17 Apr, 2026 Reviewers agreed at journal 10 Apr, 2026 Reviews received at journal 23 Mar, 2026 Reviewers agreed at journal 10 Mar, 2026 Reviewers agreed at journal 09 Mar, 2026 Reviewers invited by journal 08 Mar, 2026 Editor assigned by journal 08 Mar, 2026 Submission checks completed at journal 06 Mar, 2026 First submitted to journal 20 Feb, 2026 You are reading this latest preprint version Research Square lets you share your work early, gain feedback from the community, and start making changes to your manuscript prior to peer review in a journal. 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Also discoverable on Platform About Our Team In Review Editorial Policies Advisory Board Help Center Resources Author Services Accessibility API Access RSS feed Manage Cookie Preferences © Research Square 2026 | ISSN 2693-5015 (online) Privacy Policy Terms of Service Do Not Sell My Personal Information {"props":{"pageProps":{"initialData":{"identity":"rs-8928689","acceptedTermsAndConditions":true,"allowDirectSubmit":false,"archivedVersions":[],"articleType":"Case Report","associatedPublications":[],"authors":[{"id":604133380,"identity":"3c921445-1b03-416e-b569-62aa325b185a","order_by":0,"name":"Algara-Ramirez Carolina","email":"data:image/png;base64,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","orcid":"","institution":"Universidad La Salle","correspondingAuthor":true,"prefix":"","firstName":"Algara-Ramirez","middleName":"","lastName":"Carolina","suffix":""},{"id":604133381,"identity":"328fd495-b15f-4fb6-87b4-2b07147d66ad","order_by":1,"name":"Herrera-Castillero Zairid","email":"","orcid":"","institution":"Universidad La Salle","correspondingAuthor":false,"prefix":"","firstName":"Herrera-Castillero","middleName":"","lastName":"Zairid","suffix":""},{"id":604133382,"identity":"9974de5e-45a2-4c1d-97fc-24f5c3b1b4a3","order_by":2,"name":"Rodriguez-Hernandez Mariana","email":"","orcid":"","institution":"Universidad La Salle","correspondingAuthor":false,"prefix":"","firstName":"Rodriguez-Hernandez","middleName":"","lastName":"Mariana","suffix":""},{"id":604133383,"identity":"220b2bb9-1e4c-4539-8b7a-72f3c41ba715","order_by":3,"name":"Abundes-Corona R. Arturo","email":"","orcid":"","institution":"Instituto Nacional de Neurología y Neurocirugía","correspondingAuthor":false,"prefix":"","firstName":"Abundes-Corona","middleName":"R.","lastName":"Arturo","suffix":""}],"badges":[],"createdAt":"2026-02-20 19:38:18","currentVersionCode":1,"declarations":"","doi":"10.21203/rs.3.rs-8928689/v1","doiUrl":"https://doi.org/10.21203/rs.3.rs-8928689/v1","draftVersion":[],"editorialEvents":[],"editorialNote":"","failedWorkflow":false,"files":[{"id":104548577,"identity":"7b764e54-cf29-4f2f-836f-f323ed7e0d56","added_by":"auto","created_at":"2026-03-13 07:43:00","extension":"png","order_by":1,"title":"Figure 1","display":"","copyAsset":false,"role":"figure","size":328235,"visible":true,"origin":"","legend":"\u003cp\u003eTimeline of clinical manifestations in our patient with the C.9109 C\u0026gt;T genetic variant in \u003cem\u003eVPS13A\u003c/em\u003e gene that translates to chorea-neuroacanthocytosis. This genetic disorder is characterized by progressive neurological decline and acanthocytes. Symptoms may begin with isolated motor manifestations and progress to generalized neurological involvement, including more exaggerated involuntary movements. These signs and symptoms can lead to severe impairments such as feeding dystonia. Various presentations can be experienced and no clear order of appearance is necessary.\u003c/p\u003e","description":"","filename":"1.png","url":"https://assets-eu.researchsquare.com/files/rs-8928689/v1/0277996757d7f02ca8d2571d.png"},{"id":104548635,"identity":"2446bf13-246c-44ae-98f8-d5f6b8121eca","added_by":"auto","created_at":"2026-03-13 07:43:09","extension":"png","order_by":2,"title":"Figure 2","display":"","copyAsset":false,"role":"figure","size":456016,"visible":true,"origin":"","legend":"\u003cp\u003e\u003cem\u003eOne of the usual findings in Chorea-Acanthocytosis is the presence of acanthocytes. In this smear of peripheral blood, we can distinguish misshapen erythrocytes that cause the membranes to resemble thorns or spikes. However, this may not be present in all patients with ChAc\u003c/em\u003e\u003c/p\u003e","description":"","filename":"2.png","url":"https://assets-eu.researchsquare.com/files/rs-8928689/v1/128de2383517c943532bfb00.png"},{"id":104548653,"identity":"6e6e5bd4-228e-42b0-b4ca-cf51ec45bd66","added_by":"auto","created_at":"2026-03-13 07:43:16","extension":"pdf","order_by":0,"title":"","display":"","copyAsset":false,"role":"manuscript-pdf","size":1097324,"visible":true,"origin":"","legend":"","description":"","filename":"manuscript.pdf","url":"https://assets-eu.researchsquare.com/files/rs-8928689/v1/1f7f256c-f6a4-4339-9e26-340efbe29d54.pdf"}],"financialInterests":"No competing interests reported.","formattedTitle":"Clinical case report: Chorea-acanthocytosis of the c.9109 C\u003eT variant in the VPS13A gene","fulltext":[{"header":"Background","content":"\u003cp\u003eNeuroacanthocytosis is a genetic disorder characterized by a progressive neurological decline and the presence of acanthocytes. It is extremely rare, with an estimated prevalence of less than 1 per 1,000,000 individuals worldwide. There are different presentations: chorea-acanthocytosis (ChAc), McLeod syndrome, Huntington like-disease 2, pantothenate kinase-associated neurodegeneration, HARP Syndrome, abetalipoproteinemia, hereditary hypobetalipoproteinemia and aceruloplasminemia. Among these, chorea-acanthocytosis is the most frequent form, accounting for approximately 60% of cases, with fewer than 1,000 patients reported globally [\u003cspan citationid=\"CR1\" class=\"CitationRef\"\u003e1\u003c/span\u003e].\u003c/p\u003e\u003cp\u003eChAc has different genetic variants in the Vacuolar Protein Sorting 13 Homolog A (\u003cem\u003eVPS13A\u003c/em\u003e) gene 43 and is inherited in an autosomal recessive manner. However, an apparent autosomal dominant pattern may be observed, as disease causing variants can occur in either a homozygous or compound heterozygous state [\u003cspan citationid=\"CR2\" class=\"CitationRef\"\u003e2\u003c/span\u003e, \u003cspan citationid=\"CR3\" class=\"CitationRef\"\u003e3\u003c/span\u003e, \u003cspan citationid=\"CR4\" class=\"CitationRef\"\u003e4\u003c/span\u003e]. The \u003cem\u003eVPS13A\u003c/em\u003e gene encodes a 360-kDa protein called chorein, whose precise biological function remains incompletely understood. Chorein is believed to be involved in intracellular trafficking from the trans-Golgi network to endosomes, as well as in phagocytosis and dopamine release. It is localized in the Golgi apparatus, synaptosomes, and in the membrane of the erythrocytes [\u003cspan citationid=\"CR5\" class=\"CitationRef\"\u003e5\u003c/span\u003e, \u003cspan citationid=\"CR6\" class=\"CitationRef\"\u003e6\u003c/span\u003e, \u003cspan citationid=\"CR7\" class=\"CitationRef\"\u003e7\u003c/span\u003e, \u003cspan citationid=\"CR8\" class=\"CitationRef\"\u003e8\u003c/span\u003e].\u003c/p\u003e\u003cp\u003eThe clinical phenotype of ChAc is characterized by involuntary movements, such as chorea, orolingual dyskinesia, dysphagia, dysarthria, areflexia, epileptic seizures, psychiatric disorders, cognitive impairment, and Parkinsonism. [\u003cspan citationid=\"CR3\" class=\"CitationRef\"\u003e3\u003c/span\u003e, \u003cspan citationid=\"CR9\" class=\"CitationRef\"\u003e9\u003c/span\u003e, \u003cspan citationid=\"CR10\" class=\"CitationRef\"\u003e10\u003c/span\u003e].\u003c/p\u003e\u003cp\u003eLaboratory findings typically include elevated creatine kinase and serum transaminase levels and occasional acanthocytosis [\u003cspan citationid=\"CR3\" class=\"CitationRef\"\u003e3\u003c/span\u003e]. Several functional neuroimaging studies have reported glucose hypometabolism in the basal ganglia and increased F-fluorodeoxyglucose uptake in the pituitary gland on PET/CT [\u003cspan citationid=\"CR9\" class=\"CitationRef\"\u003e9\u003c/span\u003e]. MRI revealed mild bilateral caudate, striatum, and hippocampal atrophy, particularly in the presence of epilepsy. EEG frequently demonstrates bitemporal slowing [\u003cspan citationid=\"CR11\" class=\"CitationRef\"\u003e11\u003c/span\u003e, \u003cspan citationid=\"CR12\" class=\"CitationRef\"\u003e12\u003c/span\u003e]. Additionally, damage ganglia involvement is responsible for the characteristic involuntary movements observed in this disorder [\u003cspan citationid=\"CR12\" class=\"CitationRef\"\u003e12\u003c/span\u003e].\u003c/p\u003e\u003cp\u003eThe main causes of mortality in ChAc are aspiration pneumonia (21.8%), sudden unexplained death (18.7%), cardiovascular disease (15.6%), and suicide attempts (12.5%) [\u003cspan citationid=\"CR13\" class=\"CitationRef\"\u003e13\u003c/span\u003e].\u003c/p\u003e\u003cp\u003eTreatment is primarily symptomatic and may include deep brain stimulation (DBS) of the posteroventrolateral portion of the globus pallidus internus. Although DBS often shows an excellent initial response, its effectiveness may decrease over time, particularly chorea and dystonia [\u003cspan citationid=\"CR14\" class=\"CitationRef\"\u003e14\u003c/span\u003e, \u003cspan citationid=\"CR15\" class=\"CitationRef\"\u003e15\u003c/span\u003e].\u003c/p\u003e\u003cp\u003eAlthough the C.9109 C\u0026thinsp;\u0026gt;\u0026thinsp;T genetic variant in \u003cem\u003eVPS13A\u003c/em\u003e has been observed in other countries, this is the first documented case of this genetic variant in Mexico. This variant is associated with the development of neuroacanthocytosis.\u003c/p\u003e\u003cp\u003eThe objective of this article is to report this genetic variant in a Mexico patient, highlight its clinical manifestations, and emphasize the importance of considering ChAc in the differential diagnosis of movement disorders. Early recognition may allow timely intervention and improved clinical outcomes.\u003c/p\u003e\u003cp\u003eA 33-year old woman with no family history of chorea or other movement disorders, and an otherwise unremarkable medical history, presented with mild unsteadiness and clumsiness of insidious onset, beginning five years before her first consultation. She initially developed subacute gait impairment due to impaired of podalic coordination, along with dystonia of the right foot. Around a year after onset, she experienced generalized tonic-clonic seizures. She later developed marked orolingual dystonic movements that worsened with prolonged speech and during feeding, which conditioned weight loss. Subsequently, the seizures recurred, and a focal onset was suspected due to involuntary facial movements, cessation of behavior, and progressive generalized tonic-clonic seizures.\u003c/p\u003e\u003cp\u003e\u003col\u003e \u003cspan\u003e \u003cli\u003e \u003cp\u003e \u003cb\u003eTimeline\u003c/b\u003e \u003c/p\u003e \u003c/li\u003e \u003c/span\u003e \u003c/ol\u003e\u003c/p\u003e\u003cp\u003e\u003c/p\u003e\u003cp\u003e\u003cb\u003eDiagnostic Assessment\u003c/b\u003e\u003c/p\u003e\u003cp\u003eOur patient presents with acanthocytes in the peripheral blood, as shown in Fig.\u0026nbsp;\u003cspan refid=\"Fig2\" class=\"InternalRef\"\u003e2\u003c/span\u003e, and high levels of CPK. These findings led to a request for a molecular evaluation of \u003cem\u003eVPS13A\u003c/em\u003e and other genes associated with neuroacanthocytosis. Genetic variant c.9109\u0026thinsp;\u0026gt;\u0026thinsp;T (p.Arg3037*) was found in our patient in a heterozygous state; this situation is frequent since the other variant of the supplementary allele could be found in the intrinsic region. MRIs of the patient performed in 2021 and subsequently in 2022 showed a slight flattening of the caudate nuclei; other than that they appeared normal.\u003c/p\u003e\u003cp\u003eAdditionally, we requested an electroencephalogram to reassess the results obtained during subsequent appointments.\u003c/p\u003e\u003cp\u003e\u003c/p\u003e\u003cp\u003e\u003cb\u003eTherapeutic Intervention\u003c/b\u003e\u003c/p\u003e\u003cp\u003eCurrently, our patient is on protocol to determine if she is a candidate for deep brain stimulation.\u003c/p\u003e\u003cp\u003eCorresponding author: Algara-Ram\u0026iacute;rez Carolina mail: \u003cspan type=\"Underline\" class=\"Underline\" name=\"Emphasis\"\[email protected]\u003c/span\u003e ORCID: \u003cspan class=\"ExternalRef\"\u003e\u003cspan class=\"RefSource\"\u003ehttps://orcid.org/0009-0008-2314-0774\u003c/span\u003e\u003cspan address=\"https://orcid.org/0009-0008-2314-0774\" targettype=\"URL\" class=\"RefTarget\"\u003e\u003c/span\u003e\u003c/span\u003e\u003c/p\u003e\u003cp\u003e\u003cb\u003eAbbreviations\u003c/b\u003e\u003c/p\u003e"},{"header":"Case presentation","content":"\u003cp\u003eA 33-year old woman with no family history of chorea or other movement disorders, and an otherwise unremarkable medical history, presented with mild unsteadiness and clumsiness of insidious onset, beginning five years before her first consultation. She initially developed \u0026nbsp;subacute gait impairment due to impaired of podalic coordination, along with dystonia of the right foot. \u0026nbsp;Around a year after onset, she experienced generalized tonic-clonic seizures. She later developed marked orolingual dystonic movements that worsened with prolonged speech and during feeding, which conditioned weight loss. Subsequently, the seizures recurred, and a focal onset was suspected due to involuntary facial movements, cessation of behavior, and progressive generalized tonic-clonic seizures.\u003c/p\u003e\n\u003cp\u003e1.\u0026nbsp;\u003cstrong\u003eTimeline\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eDiagnostic Assessment\u0026nbsp;\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eOur patient presents with acanthocytes in the peripheral blood, as shown in \u003cstrong\u003eFig2\u003c/strong\u003e, and high levels of CPK. \u0026nbsp;These findings led to a request for a molecular evaluation of \u003cem\u003eVPS13A\u003c/em\u003e and other genes associated with neuroacanthocytosis. Genetic variant c.9109\u0026gt;T (p.Arg3037*) was found in our patient in a heterozygous state; this situation is frequent since the other variant of the supplementary allele could be found in the intrinsic region. MRIs of the patient performed in 2021 and subsequently in 2022 showed a slight flattening of the caudate nuclei; other than that they appeared normal.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003eAdditionally, we requested an electroencephalogram to reassess the results obtained during subsequent appointments.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eTherapeutic Intervention\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eCurrently, our patient is on protocol to determine if she is a candidate for deep brain stimulation.\u0026nbsp;\u003c/p\u003e"},{"header":"Discussion","content":"\u003cp\u003eChorea-acanthocytosis is a severely under-diagnosed and under-recognized neurogenetic disorder, largely due to its rarity, heterogeneous presentation and overlap with other movement disorders. It is a rare disease that has not been reported in Mexican literature, contributing to delayed diagnosis and suboptimal management.\u003c/p\u003e \u003cp\u003eThe clinical presentation in our patient is consistent with previously reported phenotypes, including progressive gait impairment, dystonia, epilepsy, and prominent orolingual involvement. Feeding dystonia and orolingual dyskinesia are particularly disabling manifestations, often leading to malnutrition and weight loss, as observed in this case. These features should raise clinical suspicion for ChAc, especially when accompanied by seizures and elevated CPK levels.\u003c/p\u003e \u003cp\u003eEpilepsy is a well recognized feature of ChAc and may precede or follow the onset of movement disorders. The presence of focal semiology evolving into generalized tonic-clonic seizures, as seen in our patient, aligns with existing literature and underscores the importance of comprehensive neurological evaluation.\u003c/p\u003e \u003cp\u003eIt is also essential to enhance the identification of \u003cem\u003eVPS13A\u003c/em\u003e, with particular emphasis on the detection of the C.9109\u0026thinsp;\u0026gt;\u0026thinsp;T variant. This underscores the need for advanced molecular molecular techniques and careful clinical-genetic correlation.\u003c/p\u003e \u003cp\u003eFinally, this case emphasizes the importance of genetic counseling and family screening, as early identification of at-risk individuals may allow anticipatory guidance and improved long-term outcomes. Moreover, it highlights the critical role of genetic testing in Latin America, particularly in Mexico, where access to advanced molecular diagnostics remains limited and underutilized. Reporting pathogenic \u003cem\u003eVPS13A\u003c/em\u003e variants in this region may contribute to increased awareness, improved diagnostic strategies, and the development of region-specific genetic databases. Increased awareness among clinicians is essential to promote timely diagnosis and appropriate referral for multidisciplinary management, including consideration of neuromodulatory therapies.\u003c/p\u003e"},{"header":"Conclusion","content":"\u003cp\u003eThis report contributes to the limited literature on chorea-acanthocytosis in Mexico by documenting the \u003cem\u003ec.9109C\u0026thinsp;\u0026gt;\u0026thinsp;T\u003c/em\u003e variant in the \u003cem\u003eVPS13A\u003c/em\u003e gene. Early recognition of this disorder and its diverse manifestations is critical, as timely diagnosis may favorably influence disease management and progression. Incorporating ChAc into the differential diagnosis of movement disorders with epilepsy and elevated muscle enzymes may enhance diagnostic accuracy and patient care.\u003c/p\u003e"},{"header":"Abbreviations","content":"\u003cp\u003e\u003cstrong\u003e\u003cem\u003eChAc\u003c/em\u003e\u003c/strong\u003e\u003cstrong\u003e:\u003c/strong\u003e Chorea-acanthocytosis\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003e\u003cem\u003eVPS13A:\u0026nbsp;\u003c/em\u003e\u003c/strong\u003eVacuolar Protein Sorting 13 Homolog A\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eDBS:\u0026nbsp;\u003c/strong\u003eDeep Brain Stimulation \u0026nbsp;\u003c/p\u003e"},{"header":"Declarations","content":"\u003cp\u003e\u003cstrong\u003eClinical trial number\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eNot applicable\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eFunding\u003c/strong\u003e\u003cstrong\u003e\u0026nbsp;\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThis work did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eEthics approval and consent to participate\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eAs this work reports a single anonymized clinical case, ethics committee approval was not required according to the institutional policy .\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eConsent for publication\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eWritten informed consent for publication of the case details and any accompanying images was obtained from the patient.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eConflict of interest\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThe authors declare no competing interests.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eInformed consent\u0026nbsp;\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eAuthor Contribution\u003c/p\u003e\n\u003cp\u003eC.A., Z.H. and M.R. wrote the main manuscript text. M.R. prepared the figure 1. A.C. provide all the clinical data and figure 2. All authors reviewed the manuscript.\u003c/p\u003e"},{"header":"References","content":"\u003col\u003e\u003cli\u003e\u003cspan\u003eBenninger F, Afawi Z, Korczyn AD, Oliver KL, Pendziwiat M, Nakamura M, Sano A, Helbig I, Berkovic SF, Blatt I. Seizures as presenting and prominent symptom in chorea-acanthocytosis with c.2343del VPS13A gene mutation. Epilepsia. 2016;57(4):549\u0026ndash;56. \u003cspan class=\"ExternalRef\"\u003e\u003cspan class=\"RefSource\"\u003ehttps://doi.org/10.1111/epi.13318\u003c/span\u003e\u003cspan address=\"10.1111/epi.13318\" targettype=\"DOI\" class=\"RefTarget\"\u003e\u003c/span\u003e\u003c/span\u003e.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eCui R, You H, Niu N, Li F. FDG PET brain scan demonstrated glucose hypometabolism of bilateral caudate nuclei and putamina in a patient with chorea-acanthocytosis. 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Human VPS13A is associated with multiple organelles and influences mitochondrial morphology and lipid droplet motility. eLife. 2019;8. \u003cspan class=\"ExternalRef\"\u003e\u003cspan class=\"RefSource\"\u003ehttps://doi.org/10.7554/eLife.43561\u003c/span\u003e\u003cspan address=\"10.7554/eLife.43561\" targettype=\"DOI\" class=\"RefTarget\"\u003e\u003c/span\u003e\u003c/span\u003e.\u003c/span\u003e\u003c/li\u003e\u003c/ol\u003e"}],"fulltextSource":"","fullText":"","funders":[],"hasAdminPriorityOnWorkflow":false,"hasManuscriptDocX":true,"hasOptedInToPreprint":true,"hasPassedJournalQc":"","hasAnyPriority":false,"hideJournal":false,"highlight":"","institution":"","isAcceptedByJournal":false,"isAuthorSuppliedPdf":false,"isDeskRejected":"","isHiddenFromSearch":false,"isInQc":false,"isInWorkflow":false,"isPdf":false,"isPdfUpToDate":true,"isWithdrawnOrRetracted":false,"journal":{"display":true,"email":"[email protected]","identity":"journal-of-rare-diseases","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":false,"externalIdentity":"","sideBox":"Learn more about [Journal of Rare Diseases](https://link.springer.com/journal/44162)","snPcode":"44162","submissionUrl":"https://submission.nature.com/new-submission/44162/3","title":"Journal of Rare Diseases","twitterHandle":"","acdcEnabled":true,"dfaEnabled":true,"editorialSystem":"stoa","reportingPortfolio":"Springer Open","inReviewEnabled":true,"inReviewRevisionsEnabled":true},"keywords":"Corea, Neuroacanthocytosis, VPS13A, C.9109 genetic variant","lastPublishedDoi":"10.21203/rs.3.rs-8928689/v1","lastPublishedDoiUrl":"https://doi.org/10.21203/rs.3.rs-8928689/v1","license":{"name":"CC BY 4.0","url":"https://creativecommons.org/licenses/by/4.0/"},"manuscriptAbstract":"\u003cp\u003e\u003cstrong\u003eBackground\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eNeuroacanthocytosis is a rare genetic condition that leads to progressive neurological decline and the presence of misshapen red blood cells (acanthocytes). Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis and may present as multiple phenotypes where the main clinical manifestation is involuntary movements, which may be accompanied by neuropathy, psychiatric symptoms, neurocognitive degeneration, and seizures.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eCase presentation\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eWe present the first clinical case of a C.9109 C \u0026gt; T genetic variant in the VPS13A gene in Mexico. The case described involves a 33-year old woman with isolated episodes of dizziness, musculoskeletal pain, tonic-clonic seizures, feeding dystonia, and involuntary oromandibular and limb movements. The peripheral blood presents acanthocytes and high levels of CPK. These findings led to a request for a molecular evaluation of \u003cem\u003eVPS13A \u003c/em\u003efinding a genetic variant C.9109\u0026gt;T.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eConclusions\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThis report will provide information regarding this novel alteration in our country and to highlight the importance of an early diagnosis which greatly favors a positive outcome of symptomatic management and provides a better quality of life for patients.\u003c/p\u003e","manuscriptTitle":"Clinical case report: Chorea-acanthocytosis of the c.9109 C\u0026gt;T variant in the VPS13A gene","msid":"","msnumber":"","nonDraftVersions":[{"code":1,"date":"2026-03-13 07:41:10","doi":"10.21203/rs.3.rs-8928689/v1","editorialEvents":[{"type":"communityComments","content":0},{"type":"decision","content":"Revision requested","date":"2026-04-19T02:44:40+00:00","index":"","fulltext":""},{"type":"editorInvitedReview","content":"","date":"2026-04-18T02:22:00+00:00","index":"hide","fulltext":""},{"type":"reviewerAgreed","content":"296617920744114126968257054421548317647","date":"2026-04-10T12:44:46+00:00","index":"hide","fulltext":""},{"type":"editorInvitedReview","content":"","date":"2026-03-23T15:03:23+00:00","index":"hide","fulltext":""},{"type":"reviewerAgreed","content":"113065174243570180556423424759796656775","date":"2026-03-11T03:04:47+00:00","index":"hide","fulltext":""},{"type":"reviewerAgreed","content":"269698119039962331061942940345065311029","date":"2026-03-09T06:51:30+00:00","index":"hide","fulltext":""},{"type":"reviewersInvited","content":"","date":"2026-03-09T01:10:17+00:00","index":"","fulltext":""},{"type":"editorAssigned","content":"","date":"2026-03-08T08:16:26+00:00","index":"","fulltext":""},{"type":"checksComplete","content":"","date":"2026-03-06T14:32:14+00:00","index":"","fulltext":""},{"type":"submitted","content":"Journal of Rare Diseases","date":"2026-02-20T19:31:10+00:00","index":"","fulltext":""}],"status":"published","journal":{"display":true,"email":"[email protected]","identity":"journal-of-rare-diseases","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":false,"externalIdentity":"","sideBox":"Learn more about [Journal of Rare Diseases](https://link.springer.com/journal/44162)","snPcode":"44162","submissionUrl":"https://submission.nature.com/new-submission/44162/3","title":"Journal of Rare Diseases","twitterHandle":"","acdcEnabled":true,"dfaEnabled":true,"editorialSystem":"stoa","reportingPortfolio":"Springer Open","inReviewEnabled":true,"inReviewRevisionsEnabled":true}}],"origin":"","ownerIdentity":"9d915972-8546-4c63-8fb3-b82d477d2748","owner":[],"postedDate":"March 13th, 2026","published":true,"recentEditorialEvents":[],"rejectedJournal":[],"revision":"","amendment":"","status":"in-revision","subjectAreas":[],"tags":[],"updatedAt":"2026-04-19T02:53:28+00:00","versionOfRecord":[],"versionCreatedAt":"2026-03-13 07:41:10","video":"","vorDoi":"","vorDoiUrl":"","workflowStages":[]},"version":"v1","identity":"rs-8928689","journalConfig":"researchsquare"},"__N_SSP":true},"page":"/article/[identity]/[[...version]]","query":{"redirect":"/article/rs-8928689","identity":"rs-8928689","version":["v1"]},"buildId":"XKTyCvWXoU3ODBz1xrDgd","isFallback":false,"isExperimentalCompile":false,"dynamicIds":[84888],"gssp":true,"scriptLoader":[]}