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DC Field | Value | Language |
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dc.contributor | Sistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP | - |
dc.contributor.author | TAKADA, Leonel T. | - |
dc.contributor.author | SHA, Sharon J. | - |
dc.date.accessioned | 2013-10-02T19:33:39Z | - |
dc.date.available | 2013-10-02T19:33:39Z | - |
dc.date.issued | 2012 | - |
dc.identifier.citation | ALZHEIMERS RESEARCH & THERAPY, v.4, n.5, article ID 38, 7p, 2012 | - |
dc.identifier.issn | 1758-9193 | - |
dc.identifier.uri | https://observatorio.fm.usp.br/handle/OPI/2582 | - |
dc.description.abstract | Earlier reports of chromosome 9p-linked frontotemporal dementia (FTD) with amyotrophic lateral sclerosis (ALS) kindreds observed psychosis as a prominent feature in some patients. Since the discovery of chromosome 9 open reading frame 72 (C9orf72) hexanucleotide expansions as a cause of FTD and ALS, research groups and consortia around the world have reported their respective observations of the clinical features associated with this mutation. We reviewed the recent literature on C9orf72-associated FTD and ALS with focus on the neuropsychiatric features associated with this mutation, as well as the experience at University of California, San Francisco. The results and methodologies varied greatly across studies, making comparison of results challenging. Four reports found that psychotic features (particularly delusions) were frequent among mutation carriers, particularly when present early during the disease course, suggesting that this symptom category may be a marker for the mutation. Disinhibition and apathy were the most commonly reported early behavioral symptoms, but these may not be helpful in distinguishing carriers and noncarriers because of the symptoms' frequency in sporadic behavioral variant FTD. Other neuropsychiatric features were reported in diff erent frequencies across studies, suggesting either a similar behavioral phenotype in carriers and noncarriers or refl ecting the heterogeneity in clinical presentation of behavioral variant FTD due to C9orf72 expansions. Further studies with larger cohorts will be necessary to determine the neuropsychiatric presentation associated with this mutation. | - |
dc.description.sponsorship | Larry L. Hillblom Foundation | - |
dc.description.sponsorship | Consortium for Frontotemporal Dementia Research | - |
dc.description.sponsorship | John Douglas French Alzheimer's Foundation | - |
dc.description.sponsorship | Tau Consortium | - |
dc.description.sponsorship | National Institutes of Health (NIH) [P50AG023501, P01AG019724, P50 AG1657303] | - |
dc.description.sponsorship | State of California | - |
dc.description.sponsorship | Alzheimer's Disease Research Center of California [03-7527] | - |
dc.language.iso | eng | - |
dc.publisher | BIOMED CENTRAL LTD | - |
dc.relation.ispartof | Alzheimers Research & Therapy | - |
dc.rights | restrictedAccess | - |
dc.subject.other | amyotrophic-lateral-sclerosis | - |
dc.subject.other | hexanucleotide repeat expansion | - |
dc.subject.other | neurodegenerative disease | - |
dc.subject.other | clinical characteristics | - |
dc.subject.other | c9orf72 mutations | - |
dc.subject.other | symptoms | - |
dc.subject.other | als | - |
dc.subject.other | schizophrenia | - |
dc.subject.other | variability | - |
dc.subject.other | phenotype | - |
dc.title | Neuropsychiatric features of C9orf72-associated behavioral variant frontotemporal dementia and frontotemporal dementia with motor neuron disease | - |
dc.type | article | - |
dc.rights.holder | Copyright BIOMED CENTRAL LTD | - |
dc.identifier.doi | 10.1186/alzrt141 | - |
dc.identifier.pmid | 23034079 | - |
dc.subject.wos | Clinical Neurology | - |
dc.subject.wos | Neurosciences | - |
dc.type.category | review | - |
dc.type.version | publishedVersion | - |
hcfmusp.author.external | SHA, Sharon J.:Univ Calif San Francisco, Memory & Aging Ctr, San Francisco, CA 94143 USA | - |
hcfmusp.description.articlenumber | 38 | - |
hcfmusp.description.issue | 5 | - |
hcfmusp.description.volume | 4 | - |
hcfmusp.origem | WOS | - |
hcfmusp.origem.id | WOS:000315195500004 | - |
hcfmusp.origem.id | 2-s2.0-84866176965 | - |
hcfmusp.publisher.city | LONDON | - |
hcfmusp.publisher.country | ENGLAND | - |
hcfmusp.relation.reference | Bird TD, 1997, NEUROLOGY, V48, P949 | - |
hcfmusp.relation.reference | Boeve BF, 2012, BRAIN, V135, P765, DOI 10.1093/brain/aws004 | - |
hcfmusp.relation.reference | Boxer AL, 2011, J NEUROL NEUROSUR PS, V82, P196, DOI 10.1136/jnnp.2009.204081 | - |
hcfmusp.relation.reference | Byrne S, 2012, LANCET NEUROL, V11, P232, DOI 10.1016/S1474-4422(12)70014-5 | - |
hcfmusp.relation.reference | Casanova MF, 2011, ACTA NEUROPATHOL, V122, P117, DOI 10.1007/s00401-011-0821-3 | - |
hcfmusp.relation.reference | Chio A, 2012, BRAIN, V135, P784, DOI 10.1093/brain/awr366 | - |
hcfmusp.relation.reference | CUMMINGS JL, 1994, NEUROLOGY, V44, P2308 | - |
hcfmusp.relation.reference | DeJesus-Hernandez M, 2011, NEURON, V72, P245, DOI 10.1016/j.neuron.2011.09.011 | - |
hcfmusp.relation.reference | Grace J, 2001, FRONTAL SYSTEMS BEHA | - |
hcfmusp.relation.reference | Hsiung GYR, 2012, BRAIN, V135, P709, DOI 10.1093/brain/awr354 | - |
hcfmusp.relation.reference | Johnson JO, 2010, NEURON, V68, P857, DOI 10.1016/j.neuron.2010.11.036 | - |
hcfmusp.relation.reference | Khan BK, 2012, PSYCHOSOMATICS, V53, P280, DOI 10.1016/j.psym.2011.04.005 | - |
hcfmusp.relation.reference | Khan BK, 2012, J NEUROL NEUROSUR PS, V83, P358, DOI 10.1136/jnnp-2011-301883 | - |
hcfmusp.relation.reference | Le Ber I, 2008, BRAIN, V131, P732, DOI 10.1093/brain/awn012 | - |
hcfmusp.relation.reference | Lillo P, 2010, ARCH NEUROL-CHICAGO, V67, P826, DOI 10.1001/archneurol.2010.146 | - |
hcfmusp.relation.reference | Lindquist SG, 2012, CLIN GENET, DOI [10.1111/j.1399-0004.2012.01903.x, DOI 10.1111/J.1399-0004.2012.01903.X.] | - |
hcfmusp.relation.reference | Luty AA, 2008, BMC NEUROL, V8, DOI 10.1186/1471-2377-8-32 | - |
hcfmusp.relation.reference | Mahoney CJ, 2012, BRAIN, V135, P736, DOI 10.1093/brain/awr361 | - |
hcfmusp.relation.reference | Majounie E, 2012, LANCET NEUROL, V11, P323, DOI 10.1016/S1474-4422(12)70043-1 | - |
hcfmusp.relation.reference | Mendez MF, 2008, DEMENT GERIATR COGN, V25, P206, DOI 10.1159/000113418 | - |
hcfmusp.relation.reference | Murray ME, 2011, ACTA NEUROPATHOL, V122, P673, DOI 10.1007/s00401-011-0907-y | - |
hcfmusp.relation.reference | O'Dowd S, 2012, MOVEMENT DISORD, V27, P1072, DOI 10.1002/mds.25022 | - |
hcfmusp.relation.reference | Pearson JP, 2011, J NEUROL, V258, P647, DOI 10.1007/s00415-010-5815-x | - |
hcfmusp.relation.reference | Piguet O, 2011, J MOL NEUROSCI, V45, P589, DOI 10.1007/s12031-011-9547-x | - |
hcfmusp.relation.reference | Rademakers R, 2007, LANCET NEUROL, V6, P857, DOI 10.1016/S14744422(07)70221-1 | - |
hcfmusp.relation.reference | Rascovsky K, 2011, BRAIN, V134, P2456, DOI 10.1093/brain/awr179 | - |
hcfmusp.relation.reference | Renton AE, 2011, NEURON, V72, P257, DOI 10.1016/j.neuron.2011.09.010 | - |
hcfmusp.relation.reference | Sha SJ, 2012, NEUROLOGY, V79, P1002, DOI 10.1212/WNL.0b013e318268452e | - |
hcfmusp.relation.reference | Simon-Sanchez J, 2012, BRAIN, V135, P723, DOI 10.1093/brain/awr353 | - |
hcfmusp.relation.reference | Snowden JS, 2012, BRAIN, V135, P693, DOI 10.1093/brain/awr355 | - |
hcfmusp.relation.reference | Takada LT, ARCH NEUROL, V69, P1149 | - |
hcfmusp.relation.reference | Urwin H, 2010, ACTA NEUROPATHOL, V120, P33, DOI 10.1007/s00401-010-0698-6 | - |
hcfmusp.relation.reference | Vance C, 2006, BRAIN, V129, P868, DOI 10.1093/brain/awl030 | - |
hcfmusp.relation.reference | Velakoulis D, 2009, BRIT J PSYCHIAT, V194, P298, DOI 10.1192/bjp.bp.108.057034 | - |
hcfmusp.relation.reference | Woolley JD, 2011, J CLIN PSYCHIAT, V72, P126, DOI 10.4088/JCP.10m06382oli | - |
dc.description.index | PubMed | - |
hcfmusp.remissive.sponsorship | NIH | - |
hcfmusp.citation.scopus | 30 | - |
hcfmusp.scopus.lastupdate | 2024-03-29 | - |
Appears in Collections: | Artigos e Materiais de Revistas Científicas - FM/Outros Artigos e Materiais de Revistas Científicas - HC/ICHC |
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