{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T12:40:01Z","timestamp":1791895201254,"version":"4.3.4"},"reference-count":45,"publisher":"Springer Science and Business Media LLC","issue":"5","license":[{"start":{"date-parts":[[2024,1,23]],"date-time":"2024-01-23T00:00:00Z","timestamp":1705968000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,1,23]],"date-time":"2024-01-23T00:00:00Z","timestamp":1705968000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/100012940","name":"Universit\u00e4tsklinikum T\u00fcbingen","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100012940","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Neurol"],"published-print":{"date-parts":[[2024,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>To specify peripheral nerve affection in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) by correlating high-resolution nerve ultrasound and nerve conduction studies.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>We assessed a cohort of 11 ARSACS patients with standardized nerve conduction studies and high-resolution ultrasound of peripheral nerves and compared nerve ultrasound findings to a healthy control group matched for age, sex, size and weight.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>Mean age of patients was 39.0 (\u00b1\u200914.1) years and disease duration at assessment 30.6 (\u00b1\u200912.5) years. All patients presented with a spasticity, ataxia and peripheral neuropathy. Neuropathy appeared to be primarily demyelinating in 9\/11 cases and was not classifiable in 2\/11 cases due to not evocable potentials. Nerve ultrasound revealed a normal ultrasound pattern sum score (UPSS) in each ARSACS patient and no significant nerve enlargement compared to the control group.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>Peripheral neuropathy in ARSACS showed primarily demyelinating rather than axonal characteristics and presented without nerve enlargement. As demyelinating neuropathies do commonly present enlarged nerves we recommend further genetic testing of the SACS gene in patients who present with this combination of demyelinating neuropathy without nerve enlargement. ARSACS cases that initially presented only with neuropathy without spasticity or ataxia and therefore were misdiagnosed as Charcot-Marie-Tooth disease are supporting this suggestion.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1007\/s00415-023-12159-2","type":"journal-article","created":{"date-parts":[[2024,1,23]],"date-time":"2024-01-23T06:01:36Z","timestamp":1705989696000},"page":"2494-2502","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Neuropathy in ARSACS is demyelinating but without typical nerve enlargement in nerve ultrasound"],"prefix":"10.1007","volume":"271","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-8885-1532","authenticated-orcid":false,"given":"Katharina","family":"Kneer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"Straub","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Wittlinger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan-Hendrik","family":"Stahl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalie","family":"Winter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dagmar","family":"Timmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ludger","family":"Sch\u00f6ls","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthis","family":"Synofzik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Friedemann","family":"Bender","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander","family":"Grimm","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,1,23]]},"reference":[{"issue":"5","key":"12159_CR1","doi-asserted-by":"crossref","first-page":"716","DOI":"10.1002\/mus.26029","volume":"57","author":"JA Telleman","year":"2018","unstructured":"Telleman JA, Grimm A, Goedee S, Visser LH, Zaidman CM (2018) Nerve ultrasound in polyneuropathies. Muscle Nerve 57(5):716\u2013728","journal-title":"Muscle Nerve"},{"issue":"7","key":"12159_CR2","doi-asserted-by":"crossref","first-page":"2618","DOI":"10.1016\/j.clinph.2016.04.009","volume":"127","author":"A Grimm","year":"2016","unstructured":"Grimm A, Vittore D, Schubert V, Lipski C, Heiling B, Decard BF et al (2016) Ultrasound pattern sum score, homogeneity score and regional nerve enlargement index for differentiation of demyelinating inflammatory and hereditary neuropathies. Clin Neurophysiol 127(7):2618\u20132624","journal-title":"Clin Neurophysiol"},{"issue":"12","key":"12159_CR3","doi-asserted-by":"crossref","first-page":"3115","DOI":"10.1007\/s00415-013-7123-8","volume":"260","author":"CM Zaidman","year":"2013","unstructured":"Zaidman CM, Harms MB, Pestronk A (2013) Ultrasound of inherited vs. acquired demyelinating polyneuropathies. J Neurol 260(12):3115\u20133121","journal-title":"J Neurol"},{"issue":"7","key":"12159_CR4","doi-asserted-by":"crossref","first-page":"1413","DOI":"10.1016\/j.clinph.2014.08.026","volume":"126","author":"SH Goedee","year":"2015","unstructured":"Goedee SH, Brekelmans GJ, van den Berg LH, Visser LH (2015) Distinctive patterns of sonographic nerve enlargement in Charcot-Marie-Tooth type 1A and hereditary neuropathy with pressure palsies. Clin Neurophysiol 126(7):1413\u20131420","journal-title":"Clin Neurophysiol"},{"issue":"3","key":"12159_CR5","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1002\/mus.23681","volume":"47","author":"S Schreiber","year":"2013","unstructured":"Schreiber S, Oldag A, Kornblum C, Kollewe K, Kropf S, Schoenfeld A et al (2013) Sonography of the median nerve in CMT1A, CMT2A, CMTX, and HNPP. Muscle Nerve 47(3):385\u2013395","journal-title":"Muscle Nerve"},{"issue":"1","key":"12159_CR6","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1016\/j.clinph.2013.07.023","volume":"125","author":"L Padua","year":"2014","unstructured":"Padua L, Granata G, Sabatelli M, Inghilleri M, Lucchetta M, Luigetti M et al (2014) Heterogeneity of root and nerve ultrasound pattern in CIDP patients. Clin Neurophysiol 125(1):160\u2013165","journal-title":"Clin Neurophysiol"},{"issue":"3","key":"12159_CR7","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1111\/jns.12091","volume":"19","author":"A Grimm","year":"2014","unstructured":"Grimm A, Decard BF, Axer H (2014) Ultrasonography of the peripheral nervous system in the early stage of Guillain-Barre syndrome. J Peripher Nerv Syst 19(3):234\u2013241","journal-title":"J Peripher Nerv Syst"},{"issue":"2","key":"12159_CR8","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1111\/jns5.12067","volume":"19","author":"A Kerasnoudis","year":"2014","unstructured":"Kerasnoudis A, Pitarokoili K, Behrendt V, Gold R, Yoon MS (2014) Multifocal motor neuropathy: correlation of nerve ultrasound, electrophysiological, and clinical findings. J Peripher Nerv Syst 19(2):165\u2013174","journal-title":"J Peripher Nerv Syst"},{"key":"12159_CR9","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1016\/j.jns.2016.01.055","volume":"362","author":"IM Athanasopoulou","year":"2016","unstructured":"Athanasopoulou IM, Rasenack M, Grimm C, Axer H, Sinnreich M, Decard BF et al (2016) Ultrasound of the nerves\u2014an appropriate addition to nerve conduction studies to differentiate paraproteinemic neuropathies. J Neurol Sci 362:188\u2013195","journal-title":"J Neurol Sci"},{"issue":"1","key":"12159_CR10","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1111\/ene.12554","volume":"22","author":"M Lucchetta","year":"2015","unstructured":"Lucchetta M, Padua L, Granata G, Luigetti M, Campagnolo M, Dalla Torre C et al (2015) Nerve ultrasound findings in neuropathy associated with anti-myelin-associated glycoprotein antibodies. Eur J Neurol 22(1):193\u2013202","journal-title":"Eur J Neurol"},{"issue":"1\u20132","key":"12159_CR11","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1016\/j.jns.2014.09.017","volume":"347","author":"A Grimm","year":"2014","unstructured":"Grimm A, Decard BF, Bischof A, Axer H (2014) Ultrasound of the peripheral nerves in systemic vasculitic neuropathies. J Neurol Sci 347(1\u20132):44\u201349","journal-title":"J Neurol Sci"},{"issue":"4","key":"12159_CR12","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1212\/CPJ.0000000000000258","volume":"6","author":"HS Goedee","year":"2016","unstructured":"Goedee HS, van der Pol WL, van Asseldonk JH, Vrancken A, Notermans NC, Visser LH et al (2016) Nerve sonography to detect peripheral nerve involvement in vasculitis syndromes. Neurol Clin Pract 6(4):293\u2013303","journal-title":"Neurol Clin Pract"},{"issue":"1\u20132","key":"12159_CR13","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1016\/j.jns.2014.09.033","volume":"347","author":"A Kerasnoudis","year":"2014","unstructured":"Kerasnoudis A, Woitalla D, Gold R, Pitarokoili K, Yoon MS (2014) Sarcoid neuropathy: correlation of nerve ultrasound, electrophysiological and clinical findings. J Neurol Sci 347(1\u20132):129\u2013136","journal-title":"J Neurol Sci"},{"issue":"4","key":"12159_CR14","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1055\/a-0919-4768","volume":"40","author":"N Winter","year":"2019","unstructured":"Winter N, Dammeier N, Schaffer E, Bornemann A, Stahl JH, Herlan S et al (2019) Nerve ultrasonography as an additive tool to clinical examination and electrodiagnostics in sporadic mononeuritis\u2014imaging is the key. Ultraschall Med 40(4):465\u2013472","journal-title":"Ultraschall Med"},{"issue":"1","key":"12159_CR15","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1186\/s13023-018-0939-7","volume":"13","author":"TW Rattay","year":"2018","unstructured":"Rattay TW, Just J, Roben B, Hengel H, Schule R, Synofzik M et al (2018) Nerve ultrasound characterizes AMN polyneuropathy as inhomogeneous and focal hypertrophic. Orphanet J Rare Dis 13(1):194","journal-title":"Orphanet J Rare Dis"},{"key":"12159_CR16","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1016\/j.jns.2016.07.030","volume":"368","author":"A Grimm","year":"2016","unstructured":"Grimm A, Schaffer E, Just J, Schols L, Kehrer C, Bevot A et al (2016) Thickening of the peripheral nerves in metachromatic leukodystrophy. J Neurol Sci 368:399\u2013401","journal-title":"J Neurol Sci"},{"issue":"8","key":"12159_CR17","doi-asserted-by":"crossref","first-page":"1798","DOI":"10.1016\/j.clinph.2020.04.162","volume":"131","author":"B Roeben","year":"2020","unstructured":"Roeben B, Just J, Hengel H, Bender F, Poschl P, Synofzik M et al (2020) Multifocal, hypoechogenic nerve thickening in cerebrotendinous xanthomatosis. Clin Neurophysiol 131(8):1798\u20131803","journal-title":"Clin Neurophysiol"},{"key":"12159_CR18","unstructured":"Vermeer S, van de Warrenburg BP, Kamsteeg EJ, Brais B, Synofzik M. Arsacs (1993) In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K et al (eds) GeneReviews((R)). University of Washington, Seattle Copyright \u00a9 1993\u20132020, Seattle. University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved"},{"key":"12159_CR19","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1186\/1750-1172-8-41","volume":"8","author":"M Synofzik","year":"2013","unstructured":"Synofzik M, Soehn AS, Gburek-Augustat J, Schicks J, Karle KN, Schule R et al (2013) Autosomal recessive spastic ataxia of charlevoix saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum. Orphanet J Rare Dis 8:41","journal-title":"Orphanet J Rare Dis"},{"issue":"13","key":"12159_CR20","doi-asserted-by":"crossref","first-page":"1181","DOI":"10.1212\/WNL.0b013e3181f4d86c","volume":"75","author":"J Baets","year":"2010","unstructured":"Baets J, Deconinck T, Smets K, Goossens D, Van den Bergh P, Dahan K et al (2010) Mutations in SACS cause atypical and late-onset forms of ARSACS. Neurology 75(13):1181\u20131188","journal-title":"Neurology"},{"issue":"3","key":"12159_CR21","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1007\/s10048-008-0131-7","volume":"9","author":"S Vermeer","year":"2008","unstructured":"Vermeer S, Meijer RP, Pijl BJ, Timmermans J, Cruysberg JR, Bos MM et al (2008) ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia. Neurogenetics 9(3):207\u2013214","journal-title":"Neurogenetics"},{"issue":"1","key":"12159_CR22","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1111\/j.1468-1331.2012.03815.x","volume":"20","author":"E Prodi","year":"2013","unstructured":"Prodi E, Grisoli M, Panzeri M, Minati L, Fattori F, Erbetta A et al (2013) Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series. Eur J Neurol 20(1):138\u2013146","journal-title":"Eur J Neurol"},{"issue":"6","key":"12159_CR23","doi-asserted-by":"crossref","first-page":"871","DOI":"10.1002\/ana.24509","volume":"78","author":"J Pilliod","year":"2015","unstructured":"Pilliod J, Moutton S, Lavie J, Maurat E, Hubert C, Bellance N et al (2015) New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay. Ann Neurol 78(6):871\u2013886","journal-title":"Ann Neurol"},{"issue":"14","key":"12159_CR24","doi-asserted-by":"crossref","first-page":"2011","DOI":"10.1002\/mds.25604","volume":"28","author":"A Duquette","year":"2013","unstructured":"Duquette A, Brais B, Bouchard JP, Mathieu J (2013) Clinical presentation and early evolution of spastic ataxia of Charlevoix-Saguenay. Mov Disord 28(14):2011\u20132014","journal-title":"Mov Disord"},{"issue":"2","key":"12159_CR25","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1016\/j.nmd.2017.11.008","volume":"28","author":"PVS Souza","year":"2018","unstructured":"Souza PVS, Bortholin T, Naylor FGM, Pinto W, Oliveira ASB (2018) Early-onset axonal Charcot\u2013Marie\u2013Tooth disease due to SACS mutation. Neuromuscul Disord 28(2):169\u2013172","journal-title":"Neuromuscul Disord"},{"issue":"11\u201312","key":"12159_CR26","doi-asserted-by":"crossref","first-page":"911","DOI":"10.1007\/s00439-018-1952-6","volume":"137","author":"K Vill","year":"2018","unstructured":"Vill K, Muller-Felber W, Glaser D, Kuhn M, Teusch V, Schreiber H et al (2018) SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy. Hum Genet 137(11\u201312):911\u2013919","journal-title":"Hum Genet"},{"issue":"11","key":"12159_CR27","doi-asserted-by":"crossref","first-page":"1717","DOI":"10.1212\/01.wnl.0000219042.60538.92","volume":"66","author":"T Schmitz-Hubsch","year":"2006","unstructured":"Schmitz-Hubsch T, du Montcel ST, Baliko L, Berciano J, Boesch S, Depondt C et al (2006) Scale for the assessment and rating of ataxia: development of a new clinical scale. Neurology 66(11):1717\u20131720","journal-title":"Neurology"},{"issue":"2","key":"12159_CR28","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1007\/s12311-015-0684-6","volume":"15","author":"C Linnemann","year":"2016","unstructured":"Linnemann C, du Montcel ST, Rakowicz M, Schmitz-Hubsch T, Szymanski S, Berciano J et al (2016) Peripheral neuropathy in spinocerebellar ataxia type 1, 2, 3, and 6. Cerebellum (London, England). 15(2):165\u2013173","journal-title":"Cerebellum (London, England)."},{"key":"12159_CR29","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1016\/B978-1-4557-2672-1.00003-9","volume-title":"Electromyography and neuromuscular disorders","author":"DC Preston","year":"2013","unstructured":"Preston DC, Shapiro BE (2013) Basic nerve conduction studies. In: Preston DC, Shapiro BE (eds) Electromyography and neuromuscular disorders. W.B. Saunders, London, pp 19\u201335"},{"issue":"1","key":"12159_CR30","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/j.1529-8027.2010.00245.x","volume":"15","author":"Joint Task Force of the E, the PNS","year":"2010","unstructured":"Joint Task Force of the E, the PNS (2010) European Federation of Neurological Societies\/Peripheral Nerve Society Guideline on management of chronic inflammatory demyelinating polyradiculoneuropathy: report of a joint task force of the European Federation of Neurological Societies and the Peripheral Nerve Society\u2013First Revision. J Peripher Nerv Syst 15(1):1\u20139","journal-title":"J Peripher Nerv Syst"},{"issue":"7","key":"12159_CR31","doi-asserted-by":"crossref","first-page":"1403","DOI":"10.1016\/j.clinph.2018.03.036","volume":"129","author":"A Grimm","year":"2018","unstructured":"Grimm A, Axer H, Heiling B, Winter N (2018) Nerve ultrasound normal values\u2014readjustment of the ultrasound pattern sum score UPSS. Clin Neurophysiol 129(7):1403\u20131409","journal-title":"Clin Neurophysiol"},{"key":"12159_CR32","doi-asserted-by":"crossref","first-page":"303","DOI":"10.3389\/fneur.2020.00303","volume":"11","author":"AS Grimm","year":"2020","unstructured":"Grimm AS, Schubert C, Grimm A, Stahl JH, Kupper H, Horber V et al (2020) Normative observational nerve ultrasound values in school-age children and adolescents and their application to hereditary neuropathies. Front Neurol 11:303","journal-title":"Front Neurol"},{"key":"12159_CR33","doi-asserted-by":"crossref","first-page":"907","DOI":"10.1016\/B978-0-444-52902-2.00051-5","volume":"115","author":"J Berciano","year":"2013","unstructured":"Berciano J, Garcia A, Infante J (2013) Peripheral nerve involvement in hereditary cerebellar and multisystem degenerative disorders. Handb Clin Neurol 115:907\u2013932","journal-title":"Handb Clin Neurol"},{"issue":"Pt 7","key":"12159_CR34","doi-asserted-by":"crossref","first-page":"1685","DOI":"10.1093\/brain\/awl097","volume":"129","author":"C Tzoulis","year":"2006","unstructured":"Tzoulis C, Engelsen BA, Telstad W, Aasly J, Zeviani M, Winterthun S et al (2006) The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases. Brain 129(Pt 7):1685\u20131692","journal-title":"Brain"},{"issue":"11","key":"12159_CR35","doi-asserted-by":"crossref","first-page":"2642","DOI":"10.1002\/mds.28713","volume":"36","author":"F Bender","year":"2021","unstructured":"Bender F, Timmann D, van de Warrenburg BP, Adarmes-G\u00f3mez AD, Bender B, Thieme A et al (2021) Natural History of Polymerase Gamma-Related Ataxia. Mov Disord 36(11):2642\u20132652","journal-title":"Mov Disord"},{"key":"12159_CR36","doi-asserted-by":"crossref","unstructured":"Dupre M, Hermann R, Froment Tilikete C (2020) Update on cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS). Cerebellum (London, England)","DOI":"10.1007\/s12311-020-01192-w"},{"issue":"1","key":"12159_CR37","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1007\/s00401-010-0675-0","volume":"120","author":"JA Morral","year":"2010","unstructured":"Morral JA, Davis AN, Qian J, Gelman BB, Koeppen AH (2010) Pathology and pathogenesis of sensory neuropathy in Friedreich\u2019s ataxia. Acta Neuropathol 120(1):97\u2013108","journal-title":"Acta Neuropathol"},{"issue":"4","key":"12159_CR38","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1016\/S1071-9091(98)80007-7","volume":"5","author":"TO Crawford","year":"1998","unstructured":"Crawford TO (1998) Ataxia telangiectasia. Semin Pediatr Neurol 5(4):287\u2013294","journal-title":"Semin Pediatr Neurol"},{"key":"12159_CR39","unstructured":"Coutinho P, Barbot C (1993) Ataxia with Oculomotor Apraxia Type 1. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K et al (eds) GeneReviews((R)). University of Washington, Seattle Copyright \u00a9 1993\u20132020, Seattle. University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved"},{"key":"12159_CR40","unstructured":"Moreira MC, Koenig M (1993) Ataxia with oculomotor apraxia type 2. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K et al (eds) GeneReviews((R)). University of Washington, Seattle Copyright \u00a9 1993\u20132020, Seattle. University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved"},{"issue":"4","key":"12159_CR41","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1111\/j.1440-1789.2006.00664.x","volume":"26","author":"Y Takiyama","year":"2006","unstructured":"Takiyama Y (2006) Autosomal recessive spastic ataxia of Charlevoix-Saguenay. Neuropathology 26(4):368\u2013375","journal-title":"Neuropathology"},{"issue":"2","key":"12159_CR42","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1017\/S031716710011964X","volume":"6","author":"JM Peyronnard","year":"1979","unstructured":"Peyronnard JM, Charron L, Barbeau A (1979) The neuropathy of Charlevoix-Saguenay ataxia: an electrophysiological and pathological study. Can J Neurol Sci 6(2):199\u2013203","journal-title":"Can J Neurol Sci"},{"issue":"4","key":"12159_CR43","doi-asserted-by":"crossref","first-page":"E24","DOI":"10.1002\/mus.26822","volume":"61","author":"H Kupper","year":"2020","unstructured":"Kupper H, Kaiser N, Winter N, Kehrer C, Groeschel S, Bevot A et al (2020) Enlargement of peripheral nerves in Krabbe disease: the diagnostic value of nerve ultrasound. Muscle Nerve 61(4):E24\u2013E27","journal-title":"Muscle Nerve"},{"issue":"4","key":"12159_CR44","doi-asserted-by":"crossref","first-page":"568","DOI":"10.1016\/j.clinph.2018.12.010","volume":"130","author":"R Leadbetter","year":"2019","unstructured":"Leadbetter R, Weatherall M, Pelosi L (2019) Nerve ultrasound as a diagnostic tool for sensory neuronopathy in spinocerebellar ataxia syndrome. Clin Neurophysiol 130(4):568\u2013572","journal-title":"Clin Neurophysiol"},{"issue":"1","key":"12159_CR45","doi-asserted-by":"crossref","first-page":"e62","DOI":"10.1212\/WNL.0000000000008697","volume":"94","author":"J Oudeman","year":"2020","unstructured":"Oudeman J, Eftimov F, Strijkers GJ, Schneiders JJ, Roosendaal SD, Engbersen MP et al (2020) Diagnostic accuracy of MRI and ultrasound in chronic immune-mediated neuropathies. Neurology 94(1):e62\u2013e74","journal-title":"Neurology"}],"container-title":["Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-023-12159-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00415-023-12159-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-023-12159-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,4,27]],"date-time":"2024-04-27T07:09:52Z","timestamp":1714201792000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00415-023-12159-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,1,23]]},"references-count":45,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2024,5]]}},"alternative-id":["12159"],"URL":"https:\/\/doi.org\/10.1007\/s00415-023-12159-2","relation":{},"ISSN":["0340-5354","1432-1459"],"issn-type":[{"value":"0340-5354","type":"print"},{"value":"1432-1459","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,1,23]]},"assertion":[{"value":"8 October 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"11 December 2023","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"12 December 2023","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"23 January 2024","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"All authors report no conflicts of interest in connection with this article.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"Written consent was obtained by every patient prior to clinical and electrophysiological examination.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed consent"}}]}}