{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,8,6]],"date-time":"2023-08-06T04:02:17Z","timestamp":1691294537891},"reference-count":10,"publisher":"Scientific Scholar","issue":"03","license":[{"start":{"date-parts":[[2019,9,3]],"date-time":"2019-09-03T00:00:00Z","timestamp":1567468800000},"content-version":"vor","delay-in-days":794,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Neurosciences in Rural Practice"],"published-print":{"date-parts":[[2017,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Familial amyloidotic polyneuropathy is a genetically determined disease characterized by deposition of an anomalous transthyretin. A high index of suspicion is needed for this multisymptomatic and lethal disease to be diagnosed. The patient was a 70-year-old male examined due to hypesthesia in the hands and feet, plus difficulty walking. A neurophysiological study delivered the diagnosis of axonal sensorimotor polyneuropathy. He later developed cardiac symptoms and diarrhea. Urine laboratory analyses revealed a monoclonal spike of light chains (kappa). Biopsies of abdominal fat and bone marrow yielded normal results. The genetic study was compatible with a heterozygous Val30Met-transthyretin mutation. Very few case studies have described an association between familial amyloidotic polyneuropathy and monoclonal gammopathy. We stress that genetic confirmation is important regardless of the type of amyloid deposition revealed by the biopsy.<\/jats:p>","DOI":"10.4103\/jnrp.jnrp_498_16","type":"journal-article","created":{"date-parts":[[2017,6,13]],"date-time":"2017-06-13T14:36:03Z","timestamp":1497364563000},"page":"448-450","source":"Crossref","is-referenced-by-count":0,"title":["Late-onset Familial Amyloidotic Polyneuropathy with Bence Jones Proteinuria and Cardiomyopathy"],"prefix":"10.25259","volume":"08","author":[{"given":"Sira Carrasco","family":"Garc\u00eda de Le\u00f3n","sequence":"additional","affiliation":[{"name":"Deparment of Neurology, Teaching General Hospital, Ciudad Real, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amalia Hern\u00e1ndez","family":"Gonz\u00e1lez","sequence":"additional","affiliation":[{"name":"Deparment of Neurology, Teaching General Hospital, Ciudad Real, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmen Orellana","family":"Alonso","sequence":"additional","affiliation":[{"name":"Genetics Unit, Hospital La Fe, Valencia, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura Burriel","family":"Lobo","sequence":"additional","affiliation":[{"name":"Deparment of Neurology, Teaching General Hospital, Ciudad Real, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"10894","published-online":{"date-parts":[[2019,9,3]]},"reference":[{"key":"key-10.4103\/0976-3147.207988-1","first-page":"2065","volume-title":"Amiloidosis","author":"Magro-Checa","year":"2013","journal-title":"Med"},{"key":"key-10.4103\/0976-3147.207988-2","first-page":"1036","volume-title":"Transthyretin (ATTR) amyloidosis: Clinical spectrum, molecular pathogenesis and disease-modifying treatments","author":"Sekijima","year":"2015","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"key-10.4103\/0976-3147.207988-3","first-page":"104","volume-title":"Amyloid fibril protein in familial amyloidotic polyneuropathy, Portuguese type.Definition of molecular abnormality in transthyretin (prealbumin)","author":"Saraiva","year":"1984","journal-title":"J Clin Invest"},{"key":"key-10.4103\/0976-3147.207988-4","first-page":"1786","volume-title":"Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis","author":"Lachmann","year":"2002","journal-title":"N Engl J Med"},{"key":"key-10.4103\/0976-3147.207988-5","first-page":"1227","volume-title":"Update in the diagnosis and management of transthyretin familial amyloid polyneuropathy","author":"Plante-Bordeneuve","year":"2014","journal-title":"J Neurol"},{"key":"key-10.4103\/0976-3147.207988-6","first-page":"3093","volume-title":"Diagnostic hallmarks and pitfalls in late-onset progressive transthyretin-related amyloid-neuropathy","author":"Dohrn","year":"2013","journal-title":"J Neurol"},{"key":"key-10.4103\/0976-3147.207988-7","first-page":"118","volume-title":"Primary AL (kappa-light chain) amyloidosis manifesting as peripheral neuropathy in young male without increase in serum and urine immunoglobin load: A diagnostic challenge","author":"Sarkar","year":"2005","journal-title":"Clin Neuropathol"},{"key":"key-10.4103\/0976-3147.207988-8","first-page":"128","volume-title":"Cardiac amyloidosis, a monoclonal gammopathy and a potentially misleading mutation","author":"Wechalekar","year":"2009","journal-title":"Nat Clin Pract Cardiovasc Med"},{"key":"key-10.4103\/0976-3147.207988-9","first-page":"726","volume-title":"A sporadic case of late-onset familial amyloid polyneuropathy with Bence-Jones proteinuria","author":"Yamada","year":"1999","journal-title":"J Neurol"},{"key":"key-10.4103\/0976-3147.207988-10","first-page":"658","volume-title":"A sporadic case of late-onset familial amyloid polyneuropathy with a monoclonal gammopathy","author":"Correia","year":"2015","journal-title":"Neuromuscul Disord"}],"container-title":["Journal of Neurosciences in Rural Practice"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.4103\/jnrp.jnrp_498_16.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,5]],"date-time":"2023-08-05T04:18:37Z","timestamp":1691209117000},"score":1,"resource":{"primary":{"URL":"https:\/\/ruralneuropractice.com\/late-onset-familial-amyloidotic-polyneuropathy-with-bence-jones-proteinuria-and-cardiomyopathy\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,7]]},"references-count":10,"journal-issue":{"issue":"03","published-online":{"date-parts":[[2019,9,3]]},"published-print":{"date-parts":[[2017,7]]}},"URL":"https:\/\/doi.org\/10.4103\/jnrp.jnrp_498_16","relation":{},"ISSN":["0976-3147","0976-3155"],"issn-type":[{"value":"0976-3147","type":"print"},{"value":"0976-3155","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,7]]}}}