{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T05:11:40Z","timestamp":1790745100893,"version":"4.1.0"},"reference-count":30,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2020,3,16]],"date-time":"2020-03-16T00:00:00Z","timestamp":1584316800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100008530","name":"European Regional Development Fund","doi-asserted-by":"publisher","award":["OP ERDF of Comunitat Valenciana 2014\u20102020"],"award-info":[{"award-number":["OP ERDF of Comunitat Valenciana 2014\u20102020"]}],"id":[{"id":"10.13039\/501100008530","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2020,7]]},"abstract":"<jats:sec>\n                    <jats:title>Background and purpose<\/jats:title>\n                    <jats:p>\n                      Mutations in the\n                      <jats:italic>BICD2<\/jats:italic>\n                      gene cause autosomal dominant lower extremity\u2010predominant spinal muscular atrophy 2A (SMALED2A), a condition that is associated with a specific pattern of thigh and calf muscle involvement when studied by magnetic resonance imaging (MRI). Patients may present minor clinical sensory impairment, but objective sensory involvement has yet to be demonstrated.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We collected clinical data from 11 patients from five different families carrying mutations in\n                      <jats:italic>BICD2.<\/jats:italic>\n                      Genetic diagnosis was achieved using gene panel testing and skin biopsies were taken from two patients to study the epidermal nerve fiber density.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>In the studied patients, three new pathogenic mutations were detected as well as the already defined pathogenic p.Ser107Leu mutation. The most frequent clinical picture was characterized by lower\u2010limb weakness in combination with foot deformities. One patient manifested clinical and electrophysiological sensory impairment, and the epidermal nerve fiber density study of another patient revealed the existence of a small\u2010fiber neuropathy. Muscle MRI showed a common pattern of fat deposition including selective involvement of gluteus medius and minimus at the pelvic level, the anterior compartment of the thigh and the posterior compartment of the calf, with only mild or no involvement of the intrinsic foot muscles.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      We report three new pathogenic mutations in the\n                      <jats:italic>BICD2<\/jats:italic>\n                      gene. Muscle MRI confirms the existence of a selective pattern of thigh and leg muscle involvement in SMALED2A, providing additional information regarding pelvic and foot muscles. Moreover, our results raise the possibility of sensory involvement in the disease.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/ene.14173","type":"journal-article","created":{"date-parts":[[2020,2,14]],"date-time":"2020-02-14T02:38:36Z","timestamp":1581647916000},"page":"1327-1335","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Clinical spectrum of\n                    <i>BICD2<\/i>\n                    mutations"],"prefix":"10.1111","volume":"27","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7206-5362","authenticated-orcid":false,"given":"M.","family":"Frasquet","sequence":"first","affiliation":[{"name":"Neuromuscular Diseases Unit Neurology Department Hospital Universitari i Polit\u00e8cnic La Fe Valencia Spain"},{"name":"Neuromuscular &amp; Ataxias Research Group Instituto de Investigaci\u00f3n Sanitaria La Fe Valencia Spain"},{"name":"Joint Unit for Research on Rare Diseases CIPF\u2010IISLa Fe Valencia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Camacho","sequence":"additional","affiliation":[{"name":"Division of Child Neurology Hospital Universitario 12 de Octubre Madrid Spain"},{"name":"Faculty of Medicine Complutense University of Madrid Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"V\u00edlchez","sequence":"additional","affiliation":[{"name":"Neuromuscular &amp; Ataxias Research Group Instituto de Investigaci\u00f3n Sanitaria La Fe Valencia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Argente\u2010Escrig","sequence":"additional","affiliation":[{"name":"Neuromuscular Diseases Unit Neurology Department Hospital Universitari i Polit\u00e8cnic La Fe Valencia Spain"},{"name":"Neuromuscular &amp; Ataxias Research Group Instituto de Investigaci\u00f3n Sanitaria La Fe Valencia Spain"},{"name":"Joint Unit for Research on Rare Diseases CIPF\u2010IISLa Fe Valencia Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER) Valencia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Millet","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurophysiology Hospital Universitari i Polit\u00e8cnic La Fe Valencia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3043-7938","authenticated-orcid":false,"given":"J. 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