{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T19:32:42Z","timestamp":1791228762408,"version":"4.1.0"},"reference-count":40,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2006,9,11]],"date-time":"2006-09-11T00:00:00Z","timestamp":1157932800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2006,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The phenotype of 16 members of a family affected by a late\u2010onset, dominant, progressive, motor and autonomic disorder is described. The<jats:italic>VAPB<\/jats:italic>(Pro56Ser) mutation was detected in Brazilian families with different phenotypes of motor neuron disorders. In this family, proximal and axial muscle weakness and atrophy, associated with abdominal protrusion, defined the motor phenotype. Death occurred in 10\u201315 years due to respiratory insufficiency. Tone and tendon reflexes were decreased and a distal tremor was common. Sensation was preserved. Autonomic abnormalities were also present, including choking, chronic intestinal constipation, sexual dysfunction, and sudomotor abnormalities, and on nerve morphology there was involvement of unmyelinated fibers. Electromyography disclosed ongoing denervation and reinnervation. Isolated dysfunction of motor and autonomic neurons is unusual among the spinal muscular atrophies. On this basis, this condition seems to represent a new category of disease. Muscle Nerve, 2006<\/jats:p>","DOI":"10.1002\/mus.20657","type":"journal-article","created":{"date-parts":[[2006,9,11]],"date-time":"2006-09-11T18:55:03Z","timestamp":1158000903000},"page":"731-739","source":"Crossref","is-referenced-by-count":80,"title":["Expanding the phenotypes of the Pro56Ser<i>VAPB<\/i>mutation: Proximal SMA with dysautonomia"],"prefix":"10.1002","volume":"34","author":[{"given":"Vanessa D.","family":"Marques","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amilton A.","family":"Barreira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary B.","family":"Davis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick M.","family":"Abou\u2010Sleiman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"Jr.","given":"Wilson A.","family":"Silva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco A.","family":"Zago","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Sobreira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9ria","family":"Fazan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"Jr.","given":"Wilson","family":"Marques","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,9,11]]},"reference":[{"key":"e_1_2_7_2_2","doi-asserted-by":"publisher","DOI":"10.1097\/01.wco.0000183114.76056.0e"},{"key":"e_1_2_7_3_2","doi-asserted-by":"crossref","DOI":"10.1093\/oso\/9780192628145.001.0001","volume-title":"The genetics of neurological disorders","author":"Baraitser M","year":"1997"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(95)91507-9"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/98.3.455"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF01540409"},{"key":"e_1_2_7_7_2","first-page":"119","article-title":"Chronic intestinal pseudo\u2010obstruction syndrome in infants and associated anomalies","volume":"48","author":"Destuynder R","year":"1991","journal-title":"Arch Fr Pediatr"},{"key":"e_1_2_7_8_2","first-page":"20","volume-title":"Muscle biopsy. 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