{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,28]],"date-time":"2026-06-28T06:10:59Z","timestamp":1782627059568,"version":"3.54.5"},"reference-count":54,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T00:00:00Z","timestamp":1759276800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100012178","name":"Advocacy for Neuroacanthocytosis Patients","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100012178","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003042","name":"Else Kr\u00f6ner-Fresenius-Stiftung","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003042","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      VPS13A disease (chorea\u2010acanthocytosis) is a rare neurodegenerative disorder caused by biallelic variants in\n                      <jats:italic>VPS13A,<\/jats:italic>\n                      typically presenting with hyperkinetic movement disorders, while neuromuscular signs are often mild. The aim of the project was to investigate the frequency and severity of neuromuscular impairment in VPS13A disease.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We systematically assessed the neuromuscular involvement in six patients with VPS13A disease. Our evaluation included genetic and clinical data, blood tests, electrophysiological studies, muscle MRI, and tissue samples from muscle and nerve.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Age at clinical onset was 14 to 38\u2009years (median: 37.5). Age at onset of paresis was 27 to 29\u2009years (median: 29). Initial symptoms included seizures (5\/6), hyperkinesia (2\/6), and muscle weakness (1\/6). Neuromuscular signs ranged from hyporeflexia (5\/6) to progressive muscle wasting (3\/6). Nine\n                      <jats:italic>VPS13A<\/jats:italic>\n                      variants were detected, including a novel copy\u2010neutral inversion. Phosphocreatine kinase was elevated in all cases (498\u201312,420\u2009U\/L; median of highest values: 2230\u2009U\/L). Nerve conduction studies revealed sensorimotor axonal neuropathy. Electromyography showed chronic neurogenic changes with high amplitudes, polyphasic potentials, and reduced interference patterns (6\/6). Muscle MRI displayed fatty atrophy, most prominently in the calves (5\/5). Muscle histology indicated neurogenic and myopathic changes. Electron microscopy of mitochondria and respiratory chain analysis showed no specific pathological findings.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Interpretation<\/jats:title>\n                    <jats:p>Our findings emphasize the underrecognized neuromuscular spectrum in VPS13A disease, ranging from subclinical signs to severe paresis and sometimes preceding the hyperkinesia that gave rise to the historical term of chorea\u2010acanthocytosis. A comprehensive understanding of the phenotype is crucial for early diagnosis and appropriate management of VPS13A disease.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/acn3.70198","type":"journal-article","created":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T07:13:42Z","timestamp":1759302822000},"page":"157-169","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["The Diverse Neuromuscular Spectrum of\n                    <scp>VPS13A<\/scp>\n                    Disease"],"prefix":"10.1002","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-3912-0538","authenticated-orcid":false,"given":"Anne","family":"Buchberger","sequence":"first","affiliation":[{"name":"Department of Neurology University Hospital rechts der Isar, TUM School of Medicine and Health, Technical University of Munich  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2259-9221","authenticated-orcid":false,"given":"Evamaria","family":"Riedel","sequence":"additional","affiliation":[{"name":"Department of Neuroradiology University Hospital rechts der Isar, TUM School of Medicine and Health, Technical University of Munich  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Hackenberg","sequence":"additional","affiliation":[{"name":"Department of Neurology University Hospital rechts der Isar, TUM School of Medicine and Health, Technical University of Munich  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0089-4473","authenticated-orcid":false,"given":"Alexander","family":"Mensch","sequence":"additional","affiliation":[{"name":"Department of Neurology Martin Luther University Halle\u2010Wittenberg and University Hospital Halle  Halle (Saale) Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefanie","family":"Beck\u2010Woedl","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics University of T\u00fcbingen  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7996-5283","authenticated-orcid":false,"given":"Joohyun","family":"Park","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics University of T\u00fcbingen  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tobias B.","family":"Haack","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics University of T\u00fcbingen  T\u00fcbingen Germany"},{"name":"Center for Rare Diseases University of T\u00fcbingen  T\u00fcbingen Germany"},{"name":"Institute of Human Genetics, University Hospital rechts der Isar, TUM School of Medicine and Health Technical University of Munich  Munich Germany"},{"name":"Genomics for Health in Africa (GHA) Africa\u2010Europe Cluster of Research Excellence (CoRE)  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernhard","family":"Haslinger","sequence":"additional","affiliation":[{"name":"Department of Neurology University Hospital rechts der Isar, TUM School of Medicine and Health, Technical University of Munich  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7557-0003","authenticated-orcid":false,"given":"Jan","family":"Kirschke","sequence":"additional","affiliation":[{"name":"Department of Neuroradiology University Hospital rechts der Isar, TUM School of Medicine and Health, Technical University of Munich  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2379-6286","authenticated-orcid":false,"given":"Holger","family":"Prokisch","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University Hospital rechts der Isar, TUM School of Medicine and Health Technical University of Munich  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7364-7791","authenticated-orcid":false,"given":"Andreas","family":"Hermann","sequence":"additional","affiliation":[{"name":"Translational Neurodegeneration Section \u201cAlbrecht Kossel\u201d, Department of Neurology, University Medical Center Rostock University of Rostock  Rostock Germany"},{"name":"Center for Transdisciplinary Neurosciences Rostock (CTNR) University Medical Center Rostock, University of Rostock  Rostock Germany"},{"name":"German Center for Neurodegenerative Diseases (Deutsches Zentrum f\u00fcr Neurodegenerative Erkrankungen\u2014DZNE)  Rostock Germany"},{"name":"United Neuroscience Campus (UNC) Lund \u2013 Rostock  Rostock Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Mawrin","sequence":"additional","affiliation":[{"name":"Department of Neuropathology University of Magdeburg  Magdeburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adrian","family":"Danek","sequence":"additional","affiliation":[{"name":"Department of Neurology LMU University Hospital, LMU Munich  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benedikt","family":"Schoser","sequence":"additional","affiliation":[{"name":"Friedrich Baur Institute at the Department of Neurology LMU University Hospital, LMU Munich  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin","family":"Peikert","sequence":"additional","affiliation":[{"name":"Translational Neurodegeneration Section \u201cAlbrecht Kossel\u201d, Department of Neurology, University Medical Center Rostock University of Rostock  Rostock Germany"},{"name":"Center for Transdisciplinary Neurosciences Rostock (CTNR) University Medical Center Rostock, University of Rostock  Rostock Germany"},{"name":"United Neuroscience Campus (UNC) Lund \u2013 Rostock  Rostock Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcus","family":"Deschauer","sequence":"additional","affiliation":[{"name":"Department of Neurology University Hospital rechts der Isar, TUM School of Medicine and Health, Technical University of Munich  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabell","family":"Cordts","sequence":"additional","affiliation":[{"name":"Department of Neurology University Hospital rechts der Isar, TUM School of Medicine and Health, Technical University of Munich  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,10]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/88821"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/88825"},{"key":"e_1_2_10_4_1","volume-title":"GeneReviews(\u00ae)","author":"Peikert K.","year":"2002"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-cellbio-120420-014634"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.201807019"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbalip.2021.159003"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.2205425119"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.260227"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2017.12.007"},{"key":"e_1_2_10_11_1","doi-asserted-by":"crossref","DOI":"10.1177\/25152564231210339","article-title":"Neuroacanthocytosis Syndromes: The Clinical Perspective","volume":"6","author":"Walker R. H.","year":"2023","journal-title":"Contact"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes12030344"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.22269"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.4103\/0028-3886.333435"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1159\/000521417"},{"key":"e_1_2_10_16_1","volume-title":"GeneReviews(\u00ae)","author":"Jung H. H.","year":"1993"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2004.11.024"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awm269"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1179"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2021.05.015"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20200"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-005-0616-3"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1097\/RCT.0000000000000723"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2013.05.001"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/jmri.20804"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0005-2728(02)00305-5"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00441735"},{"key":"e_1_2_10_28_1","volume-title":"Molecular Genetics of Chorea\u2010Acanthocytosis","author":"Dobson\u2010Stone C.","year":"2004"},{"key":"e_1_2_10_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1353-8020(11)70300-5"},{"key":"e_1_2_10_30_1","doi-asserted-by":"publisher","DOI":"10.18214\/jend.2021.00031"},{"key":"e_1_2_10_31_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2021-326266"},{"key":"e_1_2_10_32_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00109-002-0349-z"},{"key":"e_1_2_10_33_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-6-68"},{"key":"e_1_2_10_34_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.21437"},{"key":"e_1_2_10_35_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-4598(200007)23:7<1113::AID-MUS15>3.0.CO;2-6"},{"key":"e_1_2_10_36_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200866"},{"key":"e_1_2_10_37_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0044-1785692"},{"key":"e_1_2_10_38_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cnp.2022.09.001"},{"key":"e_1_2_10_39_1","doi-asserted-by":"publisher","DOI":"10.1111\/jns.12265"},{"key":"e_1_2_10_40_1","doi-asserted-by":"publisher","DOI":"10.5152\/eurasianjmed.2023.21154"},{"key":"e_1_2_10_41_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880160304"},{"key":"e_1_2_10_42_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinph.2015.01.016"},{"key":"e_1_2_10_43_1","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.E19-08-0439-T"},{"key":"e_1_2_10_44_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.259357"},{"key":"e_1_2_10_45_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.2119286119"},{"key":"e_1_2_10_46_1","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.43561"},{"key":"e_1_2_10_47_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.201804111"},{"key":"e_1_2_10_48_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms21051797"},{"key":"e_1_2_10_49_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2020.09.004"},{"key":"e_1_2_10_50_1","doi-asserted-by":"publisher","DOI":"10.3390\/jcm7120472"},{"key":"e_1_2_10_51_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(82)90169-1"},{"key":"e_1_2_10_52_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.20243"},{"key":"e_1_2_10_53_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.44.7.645"},{"key":"e_1_2_10_54_1","doi-asserted-by":"publisher","DOI":"10.1017\/S0317167100029516"},{"key":"e_1_2_10_55_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.21556"}],"container-title":["Annals of Clinical and Translational Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/acn3.70198","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,10]],"date-time":"2026-01-10T14:18:05Z","timestamp":1768054685000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/acn3.70198"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10]]},"references-count":54,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1]]}},"alternative-id":["10.1002\/acn3.70198"],"URL":"https:\/\/doi.org\/10.1002\/acn3.70198","archive":["Portico"],"relation":{},"ISSN":["2328-9503","2328-9503"],"issn-type":[{"value":"2328-9503","type":"print"},{"value":"2328-9503","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,10]]},"assertion":[{"value":"2025-04-02","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-08-25","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-10-01","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}