{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,25]],"date-time":"2026-06-25T17:14:05Z","timestamp":1782407645826,"version":"3.54.5"},"reference-count":38,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2008,7]]},"DOI":"10.1097\/wad.0b013e3181732399","type":"journal-article","created":{"date-parts":[[2008,8,28]],"date-time":"2008-08-28T08:03:36Z","timestamp":1219910616000},"page":"299-307","source":"Crossref","is-referenced-by-count":34,"title":["Early Onset Familial Alzheimer Disease With Spastic Paraparesis, Dysarthria, and Seizures and N135S Mutation in PSEN1"],"prefix":"10.1097","volume":"22","author":[{"given":"Leslie A.","family":"Rudzinski","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rita M.","family":"Fletcher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dennis W.","family":"Dickson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Crook","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael L.","family":"Hutton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Adamson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neill R.","family":"Graff-Radford","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-16-20210128","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1038\/349704a0","article-title":"Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease","volume":"349","author":"Goate","year":"1991","journal-title":"Nature"},{"key":"R2-16-20210128","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1038\/ng1292-330","article-title":"Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14","volume":"2","author":"St George-Hyslop","year":"1992","journal-title":"Nat Genet"},{"key":"R3-16-20210128","doi-asserted-by":"crossref","first-page":"970","DOI":"10.1126\/science.7638621","article-title":"A familial Alzheimer's disease locus on chromosome 1","volume":"269","author":"Levy-Lehad","year":"1995","journal-title":"Science"},{"key":"R5-16-20210128","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1016\/S0928-4257(98)80035-1","article-title":"The role of A beta 42 in Alzheimer's disease","volume":"92","author":"Younkin","year":"1998","journal-title":"J Physiol Paris"},{"key":"R6-16-20210128","doi-asserted-by":"crossref","first-page":"864","DOI":"10.1038\/nm0896-864","article-title":"Secreted amyloid beta-protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease","volume":"2","author":"Scheuner","year":"1996","journal-title":"Nat Med"},{"key":"R7-16-20210128","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1016\/j.phrs.2003.11.018","article-title":"The current status of Alzheimer's disease genetics: what do we tell the patients?","volume":"50","author":"Bertram","year":"2004","journal-title":"Pharmacol Res"},{"key":"R8-16-20210128","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1016\/j.coph.2006.10.002","article-title":"Gamma-secretase: a complex target for Alzheimer's disease","volume":"7","author":"Lundkvist","year":"2007","journal-title":"Curr Opin Pharmacol"},{"key":"R9-16-20210128","doi-asserted-by":"crossref","first-page":"23895","DOI":"10.1074\/jbc.270.41.23895","article-title":"Amino-terminal deletions enhance aggregation of beta-amyloid peptides in vitro","volume":"270","author":"Pike","year":"1995","journal-title":"J Biol Chem"},{"key":"R10-16-20210128","doi-asserted-by":"crossref","first-page":"783","DOI":"10.1093\/brain\/awg084","article-title":"Alzheimer's disease with spastic paraparesis and \u2018cotton wool\u2019 plaques: two pedigrees with PS-1 exon 9 deletions","volume":"126","author":"Brooks","year":"2003","journal-title":"Brain"},{"key":"R11-16-20210128","doi-asserted-by":"crossref","first-page":"7233","DOI":"10.1074\/jbc.M007183200","article-title":"A pathogenic presenilin-1 deletion causes aberrant Abeta 42 production in the absence of congophilic amyloid plaques","volume":"276","author":"Steiner","year":"2001","journal-title":"J Biol Chem"},{"key":"R12-16-20210128","doi-asserted-by":"crossref","first-page":"452","DOI":"10.1038\/nm0498-452","article-title":"A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1","volume":"4","author":"Crook","year":"1998","journal-title":"Nat Med"},{"key":"R13-16-20210128","doi-asserted-by":"crossref","first-page":"1063","DOI":"10.1002\/humu.9458","article-title":"Biological effects of four PSEN1 gene mutations causing Alzheimer disease with spastic paraparesis and cotton wool plaques","volume":"27","author":"Dumanchin","year":"2006","journal-title":"Hum Mutat"},{"key":"R14-16-20210128","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1016\/j.neulet.2004.07.057","article-title":"A novel presenilin 1 mutation (Y154N) in a patient with early onset Alzheimer's disease with spastic paraparesis","volume":"368","author":"Hattori","year":"2004","journal-title":"Neurosci Lett"},{"key":"R15-16-20210128","doi-asserted-by":"crossref","first-page":"806","DOI":"10.1002\/1531-8249(200011)48:5<806::AID-ANA18>3.0.CO;2-F","article-title":"Variant Alzheimer's disease with spastic paraparesis and cotton wool plaques is caused by PS-1 mutations that lead to exceptionally high amyloid-beta concentrations","volume":"48","author":"Houlden","year":"2000","journal-title":"Ann Neurol"},{"key":"R16-16-20210128","doi-asserted-by":"crossref","first-page":"1865","DOI":"10.1212\/01.WNL.0000126447.91111.A1","article-title":"Novel insertional presenilin 1 mutation causing Alzheimer disease with spastic paraparesis","volume":"62","author":"Moretti","year":"2004","journal-title":"Neurology"},{"key":"R17-16-20210128","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1002\/jnr.10392","article-title":"Alzheimer's disease with spastic paresis and cotton wool type plaques","volume":"70","author":"Tabira","year":"2002","journal-title":"J Neurosci Res"},{"key":"R18-16-20210128","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1093\/jnen\/60.5.483","article-title":"Variant Alzheimer disease with spastic paraparesis: neuropathological phenotype","volume":"60","author":"Verkkoniemi","year":"2001","journal-title":"J Neuropathol Exp Neurol"},{"key":"R19-16-20210128","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1007\/s10048-005-0211-x","article-title":"Novel mutations and repeated findings of mutations in familial Alzheimer disease","volume":"6","author":"Finckh","year":"2005","journal-title":"Neurogenetics"},{"key":"R20-16-20210128","doi-asserted-by":"crossref","first-page":"685","DOI":"10.1097\/01.jnen.0000225908.90052.07","article-title":"Alzheimer disease with amygdala Lewy bodies: a distinct form of alpha-synucleinopathy","volume":"65","author":"Uchikado","year":"2006","journal-title":"J Neuropathol Exp Neurol"},{"key":"R21-16-20210128","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1002\/ana.21154","article-title":"TDP-43 immunoreactivity in hippocampal sclerosis and Alzheimer's disease","volume":"61","author":"Amador-Ortiz","year":"2007","journal-title":"Ann Neurol"},{"key":"R22-16-20210128","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1111\/j.1440-1789.2007.00766.x","article-title":"A presenilin 1 mutation (L420R) in a family with early onset Alzheimer disease, seizures and cotton wool plaques, but not spastic paraparesis","volume":"27","author":"Shrimpton","year":"2007","journal-title":"Neuropathology"},{"key":"R23-16-20210128","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1016\/0022-3956(75)90026-6","article-title":"\u201cMini-mental state.\u201d A practical method for grading the cognitive state of patients for the clinician","volume":"12","author":"Folstein","year":"1975","journal-title":"J Psychiatr Res"},{"key":"R24-16-20210128","article-title":"Dementia Rating Scale","author":"Mattis","year":"1983"},{"key":"R25-16-20210128","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1007\/s00401-007-0234-5","article-title":"TDP-43 in differential diagnosis of motor neuron disorders","volume":"114","author":"Dickson","year":"2007","journal-title":"Acta Neuropathol (Berlin)"},{"key":"R26-16-20210128","doi-asserted-by":"crossref","first-page":"1051","DOI":"10.1093\/jnen\/60.11.1051","article-title":"Cotton wool plaques in non-familial late-onset Alzheimer disease","volume":"60","author":"Le","year":"2001","journal-title":"J Neuropathol Exp Neurol"},{"key":"R27-16-20210128","doi-asserted-by":"crossref","first-page":"2165","DOI":"10.1016\/S0002-9440(10)64688-3","article-title":"Amyloid angiopathy and variability in amyloid beta deposition is determined by mutation position in presenilin-1-linked Alzheimer's disease","volume":"158","author":"Mann","year":"2001","journal-title":"Am J Pathol"},{"key":"R28-16-20210128","doi-asserted-by":"crossref","first-page":"1108","DOI":"10.1212\/WNL.59.7.1108","article-title":"Presenilin-1 mutation (E280G), spastic paraparesis, and cranial MRI white-matter abnormalities","volume":"59","author":"O'Riordan","year":"2002","journal-title":"Neurology"},{"key":"R29-16-20210128","doi-asserted-by":"crossref","first-page":"1267","DOI":"10.1097\/WNR.0b013e3282405209","article-title":"No association of spastic paraparesis genes in PSEN1 Alzheimer's disease with spastic paraparesis","volume":"18","author":"Karlstrom","year":"2007","journal-title":"Neuroreport"},{"key":"R30-16-20210128","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1097\/01.jnen.0000218446.38158.61","article-title":"Atypical progressive supranuclear palsy with corticospinal tract degeneration","volume":"65","author":"Josephs","year":"2006","journal-title":"J Neuropathol Exp Neurol"},{"key":"R31-16-20210128","first-page":"43","article-title":"Current insights into familial spastic paraparesis: new advances in an old disease","volume":"18","author":"Fortini","year":"2003","journal-title":"Funct Neurol"},{"key":"R32-16-20210128","doi-asserted-by":"crossref","first-page":"817","DOI":"10.1002\/ana.410380517","article-title":"Familial hemiplegic migraine and autosomal dominant arteriopathy with leukoencephalopathy (CADASIL)","volume":"38","author":"Hutchinson","year":"1995","journal-title":"Ann Neurol"},{"key":"R33-16-20210128","doi-asserted-by":"crossref","first-page":"1567","DOI":"10.1007\/s00415-002-0896-9","article-title":"Mutations of the prion protein gene phenotypic spectrum","volume":"249","author":"Kovacs","year":"2002","journal-title":"J Neurol"},{"key":"R34-16-20210128","doi-asserted-by":"crossref","first-page":"975","DOI":"10.1093\/brain\/123.5.975","article-title":"Familial British dementia with amyloid angiopathy: early clinical, neuropsychological and imaging findings","volume":"123","author":"Mead","year":"2000","journal-title":"Brain"},{"key":"R35-16-20210128","doi-asserted-by":"crossref","first-page":"401","DOI":"10.2190\/Q6J4-R143-P630-KW41","article-title":"The accurate diagnosis of early-onset dementia","volume":"36","author":"Mendez","year":"2006","journal-title":"Int J Psychiatry Med"},{"key":"R36-16-20210128","doi-asserted-by":"crossref","first-page":"6174","DOI":"10.1523\/JNEUROSCI.0730-07.2007","article-title":"Amyloid deposition begins in the striatum of presenilin-1 mutation carriers from two unrelated pedigrees","volume":"27","author":"Klunk","year":"2007","journal-title":"J Neurosci"},{"key":"R37-16-20210128","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1097\/WNN.0b013e318145a8c8","article-title":"The genetics of very early onset Alzheimer disease","volume":"20","author":"Filley","year":"2007","journal-title":"Cogn Behav Neurol"},{"key":"R38-16-20210128","doi-asserted-by":"crossref","first-page":"1821","DOI":"10.1001\/archneur.62.12.1821","article-title":"Novel presenilin 1 mutation (S170F) causing Alzheimer disease with Lewy bodies in the third decade of life","volume":"62","author":"Snider","year":"2005","journal-title":"Arch Neurol"},{"key":"R39-16-20210128","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1016\/S0304-3940(01)01910-3","article-title":"Presenilin mutations line up along transmembrane alpha-helices","volume":"306","author":"Hardy","year":"2001","journal-title":"Neurosci Lett"}],"container-title":["Alzheimer Disease &amp; Associated Disorders"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/journals.lww.com\/00002093-200807000-00016","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,4,13]],"date-time":"2021-04-13T01:49:27Z","timestamp":1618278567000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.lww.com\/00002093-200807000-00016"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,7]]},"references-count":38,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2008]]}},"URL":"https:\/\/doi.org\/10.1097\/wad.0b013e3181732399","relation":{},"ISSN":["0893-0341"],"issn-type":[{"value":"0893-0341","type":"print"}],"subject":[],"published":{"date-parts":[[2008,7]]}}}