{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,18]],"date-time":"2026-03-18T21:01:49Z","timestamp":1773867709258,"version":"3.50.1"},"reference-count":29,"publisher":"Wiley","issue":"5S","license":[{"start":{"date-parts":[[2014,1,17]],"date-time":"2014-01-17T00:00:00Z","timestamp":1389916800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["alz-journals.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Alzheimer's &amp;amp; Dementia"],"published-print":{"date-parts":[[2014,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>In recent years, a benign variant of frontotemporal lobar degeneration (FTLD) has\u00a0been recognized, with a particularly slow progression of cognitive deficits and scarce frontotemporal atrophy or hypoperfusion in neuroimaging studies. Patients with FTLD have been considered \u201cphenocopies,\u201d with an underlying nondegenerative neurologic process.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We report the first family with three affected members having benign FTLD associated with <jats:italic>C9ORF72<\/jats:italic> gene hexanucleotide expansion. Onset of symptoms occurred during the fifth decade, with naming and memory problems as the main features. Two siblings have stabilized at mild cognitive impairment or incipient dementia for more than a decade, and remain quite independent for their activities of daily living at the current ages of 69 and 65 years, respectively. Their mother's cognitive deterioration evolved slowly during &gt;30 years.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This family demonstrates that a benign evolution can be part of the growing spectrum of\u00a0clinical phenotypes associated with neurodegenerative diseases caused by the <jats:italic>C9ORF72<\/jats:italic> hexanucleotide expansion. Screening of this genetic marker should be considered in cases with this slow deterioration, especially if there is a family history.<\/jats:p><\/jats:sec>","DOI":"10.1016\/j.jalz.2013.09.013","type":"journal-article","created":{"date-parts":[[2014,1,15]],"date-time":"2014-01-15T10:32:13Z","timestamp":1389781933000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Familial benign frontotemporal deterioration with <i>C9ORF72<\/i> hexanucleotide expansion"],"prefix":"10.1002","volume":"10","author":[{"given":"Estrella","family":"G\u00f3mez\u2010Tortosa","sequence":"first","affiliation":[{"name":"Department of Neurology Fundaci\u00f3n Jim\u00e9nez D\u00edaz Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Soledad","family":"Serrano","sequence":"additional","affiliation":[{"name":"Department of Neurology Hospital Severo Ochoa Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda","family":"de Toledo","sequence":"additional","affiliation":[{"name":"Department of Neurology Hospital Severo Ochoa Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juli\u00e1n","family":"P\u00e9rez\u2010P\u00e9rez","sequence":"additional","affiliation":[{"name":"Secugen S.L. 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Jos\u00e9","family":"Sainz","sequence":"additional","affiliation":[{"name":"Department of Neurology Fundaci\u00f3n Jim\u00e9nez D\u00edaz Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,1,17]]},"reference":[{"key":"e_1_2_5_2_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.51.6.1546"},{"key":"e_1_2_5_3_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e31821103e6"},{"key":"e_1_2_5_4_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awr179"},{"key":"e_1_2_5_5_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.63.11.1627"},{"key":"e_1_2_5_6_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2008.163873"},{"key":"e_1_2_5_7_2","doi-asserted-by":"publisher","DOI":"10.1097\/JGP.0b013e3181d14595"},{"key":"e_1_2_5_8_2","doi-asserted-by":"publisher","DOI":"10.1097\/WCO.0b013e3283404309"},{"key":"e_1_2_5_9_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2011-301883"},{"key":"e_1_2_5_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2011.09.010"},{"key":"e_1_2_5_11_2","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/j.neuron.2011.09.011","article-title":"Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p\u2010linked FTD and ALS","volume":"2","author":"DeJesus\u2010Hernandez M.","year":"2011","journal-title":"Neuron"},{"key":"e_1_2_5_12_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awr353"},{"key":"e_1_2_5_13_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awr354"},{"key":"e_1_2_5_14_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awr361"},{"key":"e_1_2_5_15_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/aws004"},{"key":"e_1_2_5_16_2","doi-asserted-by":"publisher","DOI":"10.1111\/bdi.12063"},{"key":"e_1_2_5_17_2","first-page":"1","article-title":"Early onset behavioural variant frontotemporal dementia due to the C9ORF72 hexanucleotide repeat expansion: psychiatric clinical presentations","volume":"30","author":"Arighi A.","year":"2012","journal-title":"J Alzh Dis"},{"key":"e_1_2_5_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.biopsych.2013.01.031"},{"key":"e_1_2_5_19_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awr355"},{"key":"e_1_2_5_20_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e31827f08ea"},{"key":"e_1_2_5_21_2","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1056\/NEJMc1113592","article-title":"Repeat expansion in C9ORF72 in Alzheimer's disease","volume":"3663","author":"Majounie E.","year":"2012","journal-title":"N Engl J Med"},{"key":"e_1_2_5_22_2","doi-asserted-by":"crossref","first-page":"1519","DOI":"10.1016\/j.neurobiolaging.2012.10.003","article-title":"Repeat expansions in the C9ORF72 gene contribute to Alzheimer's disease in Caucasians","volume":"34","author":"Kohli M.A.","year":"2013","journal-title":"Neurobiol Aging"},{"key":"e_1_2_5_23_2","first-page":"1","article-title":"C9orf72 hexanucleotide repeat expansions in clinical Alzheimer disease","volume":"15","author":"Harms M.","year":"2013","journal-title":"JAMA Neurol"},{"key":"e_1_2_5_24_2","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1016\/j.ajhg.2013.01.011","article-title":"Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population","volume":"93","author":"Beck J.","year":"2013","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_25_2","first-page":"1309","article-title":"C9ORF72 repeat expansions not detected in a group of patients with schizophrenia","volume":"34","author":"Huey E.D.","year":"2013","journal-title":"Neurobiol Aging"},{"key":"e_1_2_5_26_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/aws357"},{"key":"e_1_2_5_27_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurobiolaging.2012.11.025"},{"key":"e_1_2_5_28_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(12)70043-1"},{"key":"e_1_2_5_29_2","doi-asserted-by":"publisher","DOI":"10.1001\/2013.jamaneurol.181"},{"key":"e_1_2_5_30_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1219643110"}],"container-title":["Alzheimer's &amp; 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