{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,18]],"date-time":"2026-03-18T13:23:42Z","timestamp":1773840222949,"version":"3.50.1"},"reference-count":39,"publisher":"MDPI AG","issue":"14","license":[{"start":{"date-parts":[[2022,7,7]],"date-time":"2022-07-07T00:00:00Z","timestamp":1657152000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"National funding agency, FCT\u2014Funda\u00e7\u00e3o para a Ci\u00eancia e a Tecnologia","award":["LA\/P\/0063\/2020"],"award-info":[{"award-number":["LA\/P\/0063\/2020"]}]},{"name":"National funding agency, FCT\u2014Funda\u00e7\u00e3o para a Ci\u00eancia e a Tecnologia","award":["BI.02\/2018\/UCA\/CHP"],"award-info":[{"award-number":["BI.02\/2018\/UCA\/CHP"]}]},{"name":"Porto University Hospital Center (CHUP)","award":["LA\/P\/0063\/2020"],"award-info":[{"award-number":["LA\/P\/0063\/2020"]}]},{"name":"Porto University Hospital Center (CHUP)","award":["BI.02\/2018\/UCA\/CHP"],"award-info":[{"award-number":["BI.02\/2018\/UCA\/CHP"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Hereditary amyloidosis associated with transthyretin (ATTRv), is a rare autosomal dominant disease characterized by length-dependent symmetric polyneuropathy that has gait impairment as one of its consequences. The gait pattern of V30M ATTRv amyloidosis patients has been described as similar to that of diabetic neuropathy, associated with steppage, but has never been quantitatively characterized. In this study we aim to characterize the gait pattern of patients with V30M ATTRv amyloidosis, thus providing information for a better understanding and potential for supporting diagnosis and disease progression evaluation. We present a case series in which we conducted two gait analyses, 18 months apart, of five V30M ATTRv amyloidosis patients using a 12-camera, marker based, optical system as well as six force platforms. Linear kinematics, ground reaction forces, and angular kinematics results are analyzed for all patients. All patients, except one, showed a delayed toe-off in the second assessment, as well as excessive pelvic rotation, hip extension and external transverse rotation and knee flexion (in stance and swing phases), along with reduced vertical and mediolateral ground reaction forces. The described gait anomalies are not clinically quantified; thus, gait analysis may contribute to the assessment of possible disease progression along with the clinical evaluation.<\/jats:p>","DOI":"10.3390\/jcm11143967","type":"journal-article","created":{"date-parts":[[2022,7,7]],"date-time":"2022-07-07T22:11:47Z","timestamp":1657231907000},"page":"3967","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Gait Characterization and Analysis of Hereditary Amyloidosis Associated with Transthyretin Patients: A Case Series"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5012-789X","authenticated-orcid":false,"given":"Maria do Carmo","family":"Vilas-Boas","sequence":"first","affiliation":[{"name":"Centro Hospitalar Universit\u00e1rio do Porto, Hospital Santo Ant\u00f3nio, Unidade Corino de Andrade, E.P.E., Largo do Prof. Abel Salazar, 4099-001 Porto, Portugal"},{"name":"INESC TEC (Instituto de Engenharia de Sistemas e Computadores, Tecnologia e Ci\u00eancia), FEUP (Faculdade de Engenharia da Universidade do Porto), University of Porto, R. Dr. Roberto Frias, 4200-465 Porto, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4885-4924","authenticated-orcid":false,"given":"Pedro Filipe Pereira","family":"Fonseca","sequence":"additional","affiliation":[{"name":"LABIOMEP: Porto Biomechanics Laboratory, University of Porto, R. Dr. Pl\u00e1cido de Costa, 91, 4200-450 Porto, Portugal"}]},{"given":"In\u00eas Martins","family":"Sousa","sequence":"additional","affiliation":[{"name":"LABIOMEP: Porto Biomechanics Laboratory, University of Porto, R. Dr. Pl\u00e1cido de Costa, 91, 4200-450 Porto, Portugal"},{"name":"Escola Superior de Biotecnologia, Universidade Cat\u00f3lica Portuguesa Rua de Diogo Botelho, 1327, 4169-005 Porto, Portugal"}]},{"given":"M\u00e1rcio Neves","family":"Cardoso","sequence":"additional","affiliation":[{"name":"Centro Hospitalar Universit\u00e1rio do Porto, Hospital Santo Ant\u00f3nio, Unidade Corino de Andrade, E.P.E., Largo do Prof. Abel Salazar, 4099-001 Porto, Portugal"}]},{"given":"Jo\u00e3o Paulo Silva","family":"Cunha","sequence":"additional","affiliation":[{"name":"INESC TEC (Instituto de Engenharia de Sistemas e Computadores, Tecnologia e Ci\u00eancia), FEUP (Faculdade de Engenharia da Universidade do Porto), University of Porto, R. Dr. Roberto Frias, 4200-465 Porto, Portugal"},{"name":"LABIOMEP: Porto Biomechanics Laboratory, University of Porto, R. Dr. Pl\u00e1cido de Costa, 91, 4200-450 Porto, Portugal"}]},{"given":"Teresa","family":"Coelho","sequence":"additional","affiliation":[{"name":"Centro Hospitalar Universit\u00e1rio do Porto, Hospital Santo Ant\u00f3nio, Unidade Corino de Andrade, E.P.E., Largo do Prof. Abel Salazar, 4099-001 Porto, Portugal"}]}],"member":"1968","published-online":{"date-parts":[[2022,7,7]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1086","DOI":"10.1016\/S1474-4422(11)70246-0","article-title":"Familial amyloid polyneuropathy","volume":"10","author":"Said","year":"2011","journal-title":"Lancet Neurol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"829","DOI":"10.1002\/mus.26034","article-title":"Estimating the global prevalence of transthyretin familial amyloid polyneuropathy","volume":"57","author":"Schmidt","year":"2018","journal-title":"Muscle Nerve"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1159\/000490553","article-title":"Epidemiology of Transthyretin Familial Amyloid Polyneuropathy in Portugal: A Nationwide Study","volume":"51","author":"Ines","year":"2018","journal-title":"Neuroepidemiology"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/j.jns.2008.02.019","article-title":"Epidemiology of familial amyloid polyneuropathy in Japan: Identification of a novel endemic focus","volume":"270","author":"Ono","year":"2008","journal-title":"J. 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