{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,24]],"date-time":"2026-03-24T11:27:48Z","timestamp":1774351668604,"version":"3.50.1"},"reference-count":40,"publisher":"BMJ","issue":"2","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neurology, Neurosurgery &amp; Psychiatry"],"published-print":{"date-parts":[[2015,2,1]]},"DOI":"10.1136\/jnnp-2014-308107","type":"journal-article","created":{"date-parts":[[2014,8,5]],"date-time":"2014-08-05T06:12:34Z","timestamp":1407219154000},"page":"159-167","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":116,"title":["CNS involvement in V30M transthyretin amyloidosis: clinical, neuropathological and biochemical findings"],"prefix":"10.1136","volume":"86","author":[{"given":"L. F.","family":"Maia","sequence":"first","affiliation":[]},{"given":"R.","family":"Magalhaes","sequence":"additional","affiliation":[]},{"given":"J.","family":"Freitas","sequence":"additional","affiliation":[]},{"given":"R.","family":"Taipa","sequence":"additional","affiliation":[]},{"given":"M. M.","family":"Pires","sequence":"additional","affiliation":[]},{"given":"H.","family":"Osorio","sequence":"additional","affiliation":[]},{"given":"D.","family":"Dias","sequence":"additional","affiliation":[]},{"given":"H.","family":"Pessegueiro","sequence":"additional","affiliation":[]},{"given":"M.","family":"Correia","sequence":"additional","affiliation":[]},{"given":"T.","family":"Coelho","sequence":"additional","affiliation":[]}],"member":"239","published-online":{"date-parts":[[2014,8,4]]},"reference":[{"key":"key-10.1136\/jnnp-2014-308107-1","doi-asserted-by":"crossref","first-page":"909","DOI":"10.1016\/j.berh.2003.09.001","article-title":"The hereditary amyloidoses","volume":"17","author":"Benson","year":"2003","journal-title":"Best Pract Res Clin Rheumatol"},{"key":"key-10.1136\/jnnp-2014-308107-2","doi-asserted-by":"crossref","first-page":"1086","DOI":"10.1016\/S1474-4422(11)70246-0","article-title":"Familial amyloid polyneuropathy","volume":"10","author":"Plant\u00e9-Bordeneuve","year":"2011","journal-title":"Lancet Neurol"},{"key":"key-10.1136\/jnnp-2014-308107-3","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1093\/brain\/75.3.408","article-title":"A peculiar form of peripheral neuropathy. Familial atypical generalized amyloidosis with special involvement of the peripheral nerves","volume":"75","author":"Andrade","year":"1952","journal-title":"Brain"},{"key":"key-10.1136\/jnnp-2014-308107-4","first-page":"351","article-title":"Statistical analysis of factors which may influence the duration of familial amyloidotic polyneuropathy type I","volume-title":"Familial amyloidotic polyneuropathy and other transthyretin related disorders","author":"Sousa","year":"1990"},{"key":"key-10.1136\/jnnp-2014-308107-5","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1002\/mus.20821","article-title":"The molecular biology and clinical features of amyloid neuropathy","volume":"36","author":"Benson","year":"2007","journal-title":"Muscle Nerve"},{"key":"key-10.1136\/jnnp-2014-308107-6","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1007\/BF00310133","article-title":"Transthyretin-type cerebral amyloid angiopathy in type I familial amyloid polyneuropathy","volume":"81","author":"Ushiyama","year":"1991","journal-title":"Acta Neuropathol"},{"key":"key-10.1136\/jnnp-2014-308107-7","doi-asserted-by":"crossref","first-page":"988","DOI":"10.1212\/WNL.47.4.988","article-title":"Massive leptomeningeal amyloidosis associated with a Val30Met transthyretin gene","volume":"47","author":"Herrick","year":"1996","journal-title":"Neurology"},{"key":"key-10.1136\/jnnp-2014-308107-8","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1046\/j.1440-1827.2001.01228.x","article-title":"Familial amyloidotic polyneuropathy (ATTR Val30Met) with widespread cerebral amyloid angiopathy and lethal cerebral haemorrhage","volume":"51","author":"Sakashita","year":"2001","journal-title":"Pathol Int"},{"key":"key-10.1136\/jnnp-2014-308107-9","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1093\/brain\/122.2.183","article-title":"Transthyretin Leu12Pro is associated with systemic, neuropathic and leptomeningeal amyloidosis","volume":"122","author":"Brett","year":"1999","journal-title":"Brain"},{"key":"key-10.1136\/jnnp-2014-308107-10","doi-asserted-by":"crossref","first-page":"1463","DOI":"10.1136\/jnnp.2003.029942","article-title":"Familial leptomeningeal amyloidosis with a transthyretin variant Asp18Gly representing repeated subarachnoid haemorrhages with superficial siderosis","volume":"75","author":"Jin","year":"2004","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"key-10.1136\/jnnp-2014-308107-11","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1016\/j.jns.2008.05.014","article-title":"A new Thr49Pro transthyretin gene mutation associated with leptomeningeal amyloidosis","volume":"272","author":"Nakagawa","year":"2008","journal-title":"J Neurol Sci"},{"key":"key-10.1136\/jnnp-2014-308107-12","doi-asserted-by":"crossref","first-page":"1113","DOI":"10.1016\/0140-6736(93)93127-M","article-title":"Clinical improvement and amyloid regression after liver transplantation in hereditary transthyretin amyloidosis","volume":"341","author":"Holmgren","year":"1993","journal-title":"Lancet"},{"key":"key-10.1136\/jnnp-2014-308107-13","doi-asserted-by":"crossref","first-page":"1495","DOI":"10.1093\/brain\/123.7.1495","article-title":"The course and prognostic factors of familial amyloid polyneuropathy after liver transplantation","volume":"123","author":"Adams","year":"2000","journal-title":"Brain"},{"issue":"(Suppl 1)","key":"key-10.1136\/jnnp-2014-308107-14","first-page":"188","article-title":"Long-term data from the Familial Amyloidotic Polyneuropathy World Transplant Registry (FAPWTR)","volume":"18","author":"Wilczek","year":"2011","journal-title":"Amyloid"},{"key":"key-10.1136\/jnnp-2014-308107-15","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1097\/00007890-200203150-00015","article-title":"Progression of cardiomyopathy after liver transplantation in patients with familial amyloidotic polyneuropathy, Portuguese type","volume":"73","author":"Olofsson","year":"2002","journal-title":"Transplantation"},{"key":"key-10.1136\/jnnp-2014-308107-16","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1097\/01.TP.0000111516.60013.E6","article-title":"A different amyloid formation mechanism: de novo oculoleptomeningeal amyloid deposits after liver transplantation","volume":"77","author":"Ando","year":"2004","journal-title":"Transplantation"},{"key":"key-10.1136\/jnnp-2014-308107-17","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1097\/00019052-200410000-00012","article-title":"Liver transplantation in transthyretin-related familial amyloid polyneuropathy","volume":"17","author":"Stangou","year":"2004","journal-title":"Curr Opin Neurol"},{"issue":"(Suppl 1)","key":"key-10.1136\/jnnp-2014-308107-18","first-page":"S506","article-title":"Transient neurological symptoms and signs not considered TIA in rural and urban Northern Portugal: incidence, risk of death and risk of stroke in a community-based study. [Abstract]","volume":"238","author":"Correia","year":"2005","journal-title":"J Neurol Sci"},{"key":"key-10.1136\/jnnp-2014-308107-19","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1161\/01.STR.0000195209.26543.8f","article-title":"Transient ischemic attacks in rural and urban northern Portugal: incidence and short-term prognosis","volume":"37","author":"Correia","year":"2006","journal-title":"Stroke"},{"key":"key-10.1136\/jnnp-2014-308107-20","doi-asserted-by":"crossref","first-page":"2324","DOI":"10.1161\/STROKEAHA.112.657759","article-title":"Spectrum of transient focal neurological episodes in cerebral amyloid angiopathy: multicentre magnetic resonance imaging cohort study and meta-analysis","volume":"43","author":"Charidimou","year":"2012","journal-title":"Stroke"},{"key":"key-10.1136\/jnnp-2014-308107-21","first-page":"88","article-title":"Forty years of experience with type I amyloid neuropathy. Review of 483 cases","volume-title":"Amyloid and amyloidosis","author":"Coutinho","year":"1980"},{"key":"key-10.1136\/jnnp-2014-308107-22","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1080\/13506120500352404","article-title":"Biochemical characteristics of variant transthyretins causing hereditary leptomeningeal amyloidosis","volume":"12","author":"Mitsuhashi","year":"2005","journal-title":"Amyloid"},{"key":"key-10.1136\/jnnp-2014-308107-23","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1136\/jnnp-2011-301299","article-title":"Natural history of transthyretin Val30Met familial amyloid polyneuropathy: analysis of late-onset cases from non-endemic areas","volume":"83","author":"Koike","year":"2012","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"key-10.1136\/jnnp-2014-308107-24","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1002\/ajmg.1320600606","article-title":"Genetic epidemiology of familial amyloidotic polyneuropathy (FAP)-type I in P\u00f3voa do Varzim and Vila do Conde (north of Portugal)","volume":"60","author":"Sousa","year":"1995","journal-title":"Am J Med Genet"},{"key":"key-10.1136\/jnnp-2014-308107-25","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1136\/jnnp.2006.093500","article-title":"A novel amyloidogenic transthyretin variant, Gly53Ala, associated with intermittent headaches and ataxia","volume":"78","author":"Douglass","year":"2007","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"key-10.1136\/jnnp-2014-308107-26","doi-asserted-by":"crossref","first-page":"1122","DOI":"10.1161\/01.STR.25.6.1122","article-title":"Baseline silent cerebral infarction in the Asymptomatic Carotid Atherosclerosis Study","volume":"25","author":"Brott","year":"1994","journal-title":"Stroke"},{"key":"key-10.1136\/jnnp-2014-308107-27","doi-asserted-by":"crossref","first-page":"412","DOI":"10.1159\/000088665","article-title":"Transient neurologic symptoms related to cerebral amyloid angiopathy: usefulness of T2*-weighted imaging","volume":"20","author":"Roch","year":"2005","journal-title":"Cerebrovasc Dis"},{"key":"key-10.1136\/jnnp-2014-308107-28","doi-asserted-by":"crossref","first-page":"3725","DOI":"10.1161\/STROKEAHA.109.557009","article-title":"Crescendo transient Aura attacks: a transient ischemic attack mimic caused by focal subarachnoid hemorrhage","volume":"40","author":"Izenberg","year":"2009","journal-title":"Stroke"},{"key":"key-10.1136\/jnnp-2014-308107-29","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1212\/WNL.57.1.135","article-title":"Recurrent subarachnoid haemorrhage associated with a new transthyretin variant (Gly53Glu)","volume":"57","author":"Ellie","year":"2001","journal-title":"Neurology"},{"key":"key-10.1136\/jnnp-2014-308107-30","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1002\/ana.410410305","article-title":"Transthyretin amyloidosis: a new mutation associated with dementia","volume":"41","author":"Petersen","year":"1997","journal-title":"Ann Neurol"},{"issue":"(Suppl 1)","key":"key-10.1136\/jnnp-2014-308107-31","first-page":"155","article-title":"A new transthyretin mutation associated with leptomeningeal amyloidosis","volume":"18","author":"Liepnieks","year":"2011","journal-title":"Amyloid"},{"key":"key-10.1136\/jnnp-2014-308107-32","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1136\/jnnp-2011-301308","article-title":"Sporadic cerebral amyloid angiopathy revisited: recent insights into pathophysiology and clinical spectrum","volume":"83","author":"Charidimou","year":"2012","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"key-10.1136\/jnnp-2014-308107-33","doi-asserted-by":"crossref","first-page":"2073","DOI":"10.1212\/WNL.43.10.2073","article-title":"The clinical spectrum of cerebral amyloid angiopathy: presentations without lobar haemorrhage","volume":"43","author":"Greenberg","year":"1993","journal-title":"Neurology"},{"key":"key-10.1136\/jnnp-2014-308107-34","doi-asserted-by":"crossref","first-page":"1620","DOI":"10.1016\/S0140-6736(12)61333-6","article-title":"Amyloid \u201cspells\u201d trouble","volume":"380","author":"Charidimou","year":"2012","journal-title":"Lancet"},{"key":"key-10.1136\/jnnp-2014-308107-35","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1007\/s00401-009-0501-8","article-title":"Genetics and molecular pathogenesis of sporadic and hereditary cerebral amyloid angiopathies","volume":"118","author":"Revesz","year":"2009","journal-title":"Acta Neuropathol"},{"key":"key-10.1136\/jnnp-2014-308107-36","doi-asserted-by":"crossref","first-page":"1072","DOI":"10.1016\/j.bbrc.2008.10.121","article-title":"Prefibrillar Transthyretin oligomers and cold stored native tetrameric Transthyretin are cytotoxic in cell culture","volume":"377","author":"S\u00f6rgjerd","year":"2008","journal-title":"Biochem Biophys Res Commun"},{"key":"key-10.1136\/jnnp-2014-308107-37","doi-asserted-by":"crossref","first-page":"891","DOI":"10.1016\/0046-8177(89)90102-0","article-title":"Amyloid protein of vessels in leptomeninges, cortices, choroid plexuses, and pituitary glands from patients with systemic amyloidosis","volume":"20","author":"Ishihara","year":"1989","journal-title":"Hum Pathol"},{"key":"key-10.1136\/jnnp-2014-308107-38","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1007\/s004280050383","article-title":"Cerebrovascular involvement in systemic AA and AL amyloidosis: a clear haematogenic pattern","volume":"434","author":"Schr\u00f6der","year":"1999","journal-title":"Virchows Arch"},{"key":"key-10.1136\/jnnp-2014-308107-39","doi-asserted-by":"crossref","first-page":"354","DOI":"10.1006\/bbrc.1995.1820","article-title":"Change in variant transthyretin levels in patients with familial amyloidotic polyneuropathy type I following liver transplantation","volume":"211","author":"Ando","year":"1995","journal-title":"Biochem Biophys Res Commun"},{"key":"key-10.1136\/jnnp-2014-308107-40","doi-asserted-by":"crossref","first-page":"740","DOI":"10.1136\/jnnp-2013-305973","article-title":"Changes in pathological and biochemical findings of systemic tissue sites in familial amyloid polyneuropathy more than 10 years after liver transplantation","volume":"85","author":"Oshima","year":"2014","journal-title":"J Neurol Neurosurg Psychiatry"}],"container-title":["Journal of Neurology, Neurosurgery &amp; Psychiatry"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jnnp-2014-308107","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,9,25]],"date-time":"2020-09-25T17:56:12Z","timestamp":1601056572000},"score":1,"resource":{"primary":{"URL":"https:\/\/jnnp.bmj.com\/lookup\/doi\/10.1136\/jnnp-2014-308107"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,8,4]]},"references-count":40,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2015,1,14]]},"published-print":{"date-parts":[[2015,2,1]]}},"URL":"https:\/\/doi.org\/10.1136\/jnnp-2014-308107","relation":{},"ISSN":["0022-3050"],"issn-type":[{"value":"0022-3050","type":"print"}],"subject":[],"published":{"date-parts":[[2014,8,4]]}}}