{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T01:09:56Z","timestamp":1777856996050,"version":"3.51.4"},"reference-count":8,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2020,9,18]],"date-time":"2020-09-18T00:00:00Z","timestamp":1600387200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JND"],"published-print":{"date-parts":[[2020,9,18]]},"abstract":"<jats:p>Hereditary transthyretin amyloidosis (hATTR amyloidosis) is a multisystemic disease usually presenting in a mixed neurological and cardiological phenotype. We present a case of hATTR amyloidosis associated with Leu55Arg mutation causing a form of familial oculo-leptomeningeal amyloidosis. Two brothers and their mother presented with severe autonomic neuropathy, loss of visual acuity and lepto-meningeal involvement. One patient suffered subarachnoid hemorrhage as a possible complication of cerebral involvement. The patients suffered from treatment-refractory weight loss and recurring vitreous opacities. RNA interference-based treatment has led to stabilization of autonomic and peripheral neuropathy but has had no effect on ocular symptoms.<\/jats:p>","DOI":"10.3233\/jnd-200542","type":"journal-article","created":{"date-parts":[[2020,7,31]],"date-time":"2020-07-31T12:59:21Z","timestamp":1596200361000},"page":"515-519","source":"Crossref","is-referenced-by-count":8,"title":["Familial Oculo-Leptomeningeal Transthyretin Amyloidosis Caused by Leu55Arg Mutation"],"prefix":"10.1177","volume":"7","author":[{"given":"Felix","family":"Kleefeld","sequence":"first","affiliation":[{"name":"Amyloidosis Center Charit\u00e9 Berlin (ACCB), Charit\u00e9-Universit\u00e4tsmedizin Berlininstitution>, Charit\u00e9platz 1, Berlin, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fabian","family":"Knebel","sequence":"additional","affiliation":[{"name":"Amyloidosis Center Charit\u00e9 Berlin (ACCB), Charit\u00e9-Universit\u00e4tsmedizin Berlininstitution>, Charit\u00e9platz 1, Berlin, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dennis","family":"Eurich","sequence":"additional","affiliation":[{"name":"Amyloidosis Center Charit\u00e9 Berlin (ACCB), Charit\u00e9-Universit\u00e4tsmedizin Berlininstitution>, Charit\u00e9platz 1, Berlin, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Imke","family":"Schatka","sequence":"additional","affiliation":[{"name":"Amyloidosis Center Charit\u00e9 Berlin (ACCB), Charit\u00e9-Universit\u00e4tsmedizin Berlininstitution>, Charit\u00e9platz 1, Berlin, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisabeth","family":"Bl\u00fcthner","sequence":"additional","affiliation":[{"name":"Amyloidosis Center Charit\u00e9 Berlin (ACCB), Charit\u00e9-Universit\u00e4tsmedizin Berlininstitution>, Charit\u00e9platz 1, Berlin, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shideh","family":"Sch\u00f6nfeld","sequence":"additional","affiliation":[{"name":"Amyloidosis Center Charit\u00e9 Berlin (ACCB), Charit\u00e9-Universit\u00e4tsmedizin Berlininstitution>, Charit\u00e9platz 1, Berlin, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Holger","family":"Amthauer","sequence":"additional","affiliation":[{"name":"Amyloidosis Center Charit\u00e9 Berlin (ACCB), Charit\u00e9-Universit\u00e4tsmedizin Berlininstitution>, Charit\u00e9platz 1, Berlin, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katrin","family":"Hahn","sequence":"additional","affiliation":[{"name":"Amyloidosis Center Charit\u00e9 Berlin (ACCB), Charit\u00e9-Universit\u00e4tsmedizin Berlininstitution>, Charit\u00e9platz 1, Berlin, 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