{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:15:46Z","timestamp":1761707746033},"reference-count":31,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2004,10,13]],"date-time":"2004-10-13T00:00:00Z","timestamp":1097625600000},"content-version":"vor","delay-in-days":3879,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[1994,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report, for the first time, electrophysiological findings in the Finnish type of familial amyloidosis (FAF), a gelsolin\u2010related form of systemic amyloidosis. Electromyography, nerve conduction studies, and blink reflex examinations were performed in 30 patients (age range 27\u201374 years). Cranial nerve involvement was detected in all, and peripheral nerve involvement in the majority of patients. Carpal tunnel syndrome was a characteristic feature of FAF, previously unrecognized. Myokymia\u2010type short spontaneous bursts in frontal muscles were found in 3 younger patients. In addition to signs of axonal degeneration we found slow nerve conduction, prolonged distal motor latencies, and conduction blocks suggestive of demyelination. Most nerve conduction velocities correlated remarkably with age. We conclude that FAF is characterized not only by distinct clinical and molecular biological features but also by electrophysiological findings, which enable differentiation from other hereditary amyloidoses. \u00a9 1994 John Wiley &amp; Sons, Inc.<\/jats:p>","DOI":"10.1002\/mus.880170307","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T08:32:51Z","timestamp":1104568371000},"page":"299-304","source":"Crossref","is-referenced-by-count":37,"title":["Neuropathy in familial amyloidosis, Finnish type (FAF): Electrophysiological studies"],"prefix":"10.1002","volume":"17","author":[{"given":"Sari","family":"Kiuru","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna\u2010Maria","family":"Sepp\u00e4l\u00e4inen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,10,13]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/75.3.408"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.42.11.1020"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(92)90182-R"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1092-157"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1969.00480110054005"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/0166-2236(89)90098-2"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1038\/ki.1986.196"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1042\/bj2720827"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199112193252505"},{"key":"e_1_2_1_11_2","first-page":"1223","article-title":"Amyloid in familial amyloidosis, Finnish type, is antigenically and structurally related to gelsolin","volume":"136","author":"Haltia M","year":"1990","journal-title":"Am J Pathol"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320420321"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410250405"},{"key":"e_1_2_1_14_2","first-page":"522","article-title":"Finnish type of familial amyloidosis: cosegregation of ASP187\u2013ASN mutation of gelsolin with the disease in three large families","volume":"49","author":"Hiltunen T","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_15_2","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1038\/325362a0","article-title":"Modulation of gelsolin function by phosphatidylinositol 4,5 biphosphate","volume":"325","author":"Janmey P","year":"1987","journal-title":"Nature"},{"key":"e_1_2_1_16_2","volume-title":"Electrodiagnoses in Diseases of Nerve and Muscle: Principles and Practice","author":"Kimura J","year":"1989"},{"key":"e_1_2_1_17_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0404.1992.tb05099.x"},{"key":"e_1_2_1_18_2","first-page":"565","article-title":"Localization of gelsolin proximal to ABL on chromosome 9","volume":"42","author":"Kwiatkowski DJ","year":"1988","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/1040-8428(90)90021-J"},{"key":"e_1_2_1_20_2","doi-asserted-by":"publisher","DOI":"10.1093\/ajcp\/52.6.714"},{"key":"e_1_2_1_21_2","doi-asserted-by":"publisher","DOI":"10.1084\/jem.172.6.1865"},{"key":"e_1_2_1_22_2","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-196901000-00001"},{"key":"e_1_2_1_23_2","doi-asserted-by":"publisher","DOI":"10.1016\/0014-5793(90)80072-Q"},{"key":"e_1_2_1_24_2","doi-asserted-by":"publisher","DOI":"10.1016\/0014-5793(90)80510-P"},{"key":"e_1_2_1_25_2","first-page":"314","article-title":"Familial systemic paramyloidosis with lattice dystrophy of the cornea, progressive cranial neuropathy, skin changes and various internal symptoms","volume":"1","author":"Meretoja J","year":"1969","journal-title":"Ann Clin Res"},{"key":"e_1_2_1_26_2","first-page":"432","article-title":"Histopathological findings of familial amyloidosis with cranial neuropathy as principal manifestation","volume":"79","author":"Meretoja J","year":"1971","journal-title":"Acta Pathol Microbiol Scand A"},{"key":"e_1_2_1_27_2","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(92)90235-K"},{"key":"e_1_2_1_28_2","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-195609000-00003"},{"key":"e_1_2_1_29_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410330110"},{"key":"e_1_2_1_30_2","doi-asserted-by":"publisher","DOI":"10.1038\/281583a0"},{"key":"e_1_2_1_31_2","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.91.3.901"},{"key":"e_1_2_1_32_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(17)42985-1"}],"container-title":["Muscle &amp; 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