guest ::
| Home > Publications Database > Early symptoms in symptomatic and preclinical genetic frontotemporal lobar degeneration > print |
| Home > Publications Database > Early symptoms in symptomatic and preclinical genetic frontotemporal lobar degeneration > print |
| 001 | 153442 | ||
| 005 | 20230915094022.0 | ||
| 024 | 7 | _ | |a pmc:PMC7611534 |2 pmc |
| 024 | 7 | _ | |a 10.1136/jnnp-2020-322987 |2 doi |
| 024 | 7 | _ | |a 0022-3050 |2 ISSN |
| 024 | 7 | _ | |a 0266-8637 |2 ISSN |
| 024 | 7 | _ | |a 0368-329X |2 ISSN |
| 024 | 7 | _ | |a 1468-330X |2 ISSN |
| 024 | 7 | _ | |a altmetric:87856113 |2 altmetric |
| 024 | 7 | _ | |a pmid:32769115 |2 pmid |
| 024 | 7 | _ | |a 2753-0477 |2 ISSN |
| 024 | 7 | _ | |a 2753-0485 |2 ISSN |
| 037 | _ | _ | |a DZNE-2020-01439 |
| 041 | _ | _ | |a English |
| 082 | _ | _ | |a 610 |
| 100 | 1 | _ | |a Tavares, Tamara Paulo |0 0000-0002-3043-9773 |b 0 |
| 245 | _ | _ | |a Early symptoms in symptomatic and preclinical genetic frontotemporal lobar degeneration |
| 260 | _ | _ | |a London |c 2020 |b BMJ Publishing Group |
| 336 | 7 | _ | |a article |2 DRIVER |
| 336 | 7 | _ | |a Output Types/Journal article |2 DataCite |
| 336 | 7 | _ | |a Journal Article |b journal |m journal |0 PUB:(DE-HGF)16 |s 1622031518_6106 |2 PUB:(DE-HGF) |
| 336 | 7 | _ | |a ARTICLE |2 BibTeX |
| 336 | 7 | _ | |a JOURNAL_ARTICLE |2 ORCID |
| 336 | 7 | _ | |a Journal Article |0 0 |2 EndNote |
| 520 | _ | _ | |a Objectives The clinical heterogeneity of frontotemporal dementia (FTD) complicates identification of biomarkers for clinical trials that may be sensitive during the prediagnostic stage. It is not known whether cognitive or behavioural changes during the preclinical period are predictive of genetic status or conversion to clinical FTD. The first objective was to evaluate the most frequent initial symptoms in patients with genetic FTD. The second objective was to evaluate whether preclinical mutation carriers demonstrate unique FTD-related symptoms relative to familial mutation non-carriers.Methods The current study used data from the Genetic Frontotemporal Dementia Initiative multicentre cohort study collected between 2012 and 2018. Participants included symptomatic carriers (n=185) of a pathogenic mutation in chromosome 9 open reading frame 72 (C9orf72), progranulin (GRN) or microtubule-associated protein tau (MAPT) and their first-degree biological family members (n=588). Symptom endorsement was documented using informant and clinician-rated scales.Results The most frequently endorsed initial symptoms among symptomatic patients were apathy (23%), disinhibition (18%), memory impairments (12%), decreased fluency (8%) and impaired articulation (5%). Predominant first symptoms were usually discordant between family members. Relative to biologically related non-carriers, preclinical MAPT carriers endorsed worse mood and sleep symptoms, and C9orf72 carriers endorsed marginally greater abnormal behaviours. Preclinical GRN carriers endorsed less mood symptoms compared with non-carriers, and worse everyday skills.Conclusion Preclinical mutation carriers exhibited neuropsychiatric symptoms compared with non-carriers that may be considered as future clinical trial outcomes. Given the heterogeneity in symptoms, the detection of clinical transition to symptomatic FTD may be best captured by composite indices integrating the most common initial symptoms for each genetic group |
| 536 | _ | _ | |a 344 - Clinical and Health Care Research (POF3-344) |0 G:(DE-HGF)POF3-344 |c POF3-344 |f POF III |x 0 |
| 536 | _ | _ | |a 345 - Population Studies and Genetics (POF3-345) |0 G:(DE-HGF)POF3-345 |c POF3-345 |f POF III |x 1 |
| 588 | _ | _ | |a Dataset connected to CrossRef |
| 650 | _ | 2 | |a Adult |2 MeSH |
| 650 | _ | 2 | |a C9orf72 Protein: genetics |2 MeSH |
| 650 | _ | 2 | |a Female |2 MeSH |
| 650 | _ | 2 | |a Frontotemporal Dementia: diagnosis |2 MeSH |
| 650 | _ | 2 | |a Frontotemporal Dementia: genetics |2 MeSH |
| 650 | _ | 2 | |a Heterozygote |2 MeSH |
| 650 | _ | 2 | |a Humans |2 MeSH |
| 650 | _ | 2 | |a Male |2 MeSH |
| 650 | _ | 2 | |a Middle Aged |2 MeSH |
| 650 | _ | 2 | |a Mutation |2 MeSH |
| 650 | _ | 2 | |a Prodromal Symptoms |2 MeSH |
| 650 | _ | 2 | |a Progranulins: genetics |2 MeSH |
| 650 | _ | 2 | |a tau Proteins: genetics |2 MeSH |
| 700 | 1 | _ | |a Mitchell, Derek G V |b 1 |
| 700 | 1 | _ | |a Coleman, Kristy KL |b 2 |
| 700 | 1 | _ | |a Coleman, Brenda L |b 3 |
| 700 | 1 | _ | |a Shoesmith, Christen L |b 4 |
| 700 | 1 | _ | |a Butler, Christopher R |b 5 |
| 700 | 1 | _ | |a Santana, Isabel |b 6 |
| 700 | 1 | _ | |a Danek, Adrian |0 P:(DE-HGF)0 |b 7 |
| 700 | 1 | _ | |a Gerhard, Alexander |b 8 |
| 700 | 1 | _ | |a de Mendonca, Alexandre |b 9 |
| 700 | 1 | _ | |a Borroni, Barbara |0 0000-0001-9340-9814 |b 10 |
| 700 | 1 | _ | |a Tartaglia, Maria Carmela |b 11 |
| 700 | 1 | _ | |a Graff, Caroline |b 12 |
| 700 | 1 | _ | |a Galimberti, Daniela |b 13 |
| 700 | 1 | _ | |a Tagliavini, Fabrizio |b 14 |
| 700 | 1 | _ | |a Moreno, Fermin |b 15 |
| 700 | 1 | _ | |a Frisoni, Giovanni |b 16 |
| 700 | 1 | _ | |a Rowe, James Benedict |0 0000-0001-7216-8679 |b 17 |
| 700 | 1 | _ | |a Levin, Johannes |0 P:(DE-2719)2811659 |b 18 |u dzne |
| 700 | 1 | _ | |a Van Swieten, John Cornelis |0 0000-0001-6278-6844 |b 19 |
| 700 | 1 | _ | |a Otto, Markus |0 0000-0002-6647-5944 |b 20 |
| 700 | 1 | _ | |a Synofzik, Matthis |0 P:(DE-2719)2811275 |b 21 |u dzne |
| 700 | 1 | _ | |a Sanchez-Valle, Raquel |b 22 |
| 700 | 1 | _ | |a Vandenberghe, Rik |b 23 |
| 700 | 1 | _ | |a Laforce, Robert Jr |b 24 |
| 700 | 1 | _ | |a Ghidoni, Roberta |b 25 |
| 700 | 1 | _ | |a Sorbi, Sandro |b 26 |
| 700 | 1 | _ | |a Ducharme, Simon |b 27 |
| 700 | 1 | _ | |a Masellis, Mario |b 28 |
| 700 | 1 | _ | |a Rohrer, Jonathan |b 29 |
| 700 | 1 | _ | |a Finger, Elizabeth |0 0000-0003-4461-7427 |b 30 |e Corresponding author |
| 773 | _ | _ | |a 10.1136/jnnp-2020-322987 |g Vol. 91, no. 9, p. 975 - 984 |0 PERI:(DE-600)1480429-3 |n 9 |p 975 - 984 |t Journal of neurology, neurosurgery, and psychiatry |v 91 |y 2020 |x 1468-330X |
| 856 | 4 | _ | |u https://jnnp.bmj.com/content/91/9/975 |
| 909 | C | O | |p VDB |o oai:pub.dzne.de:153442 |
| 910 | 1 | _ | |a Deutsches Zentrum für Neurodegenerative Erkrankungen |0 I:(DE-588)1065079516 |k DZNE |b 18 |6 P:(DE-2719)2811659 |
| 910 | 1 | _ | |a Deutsches Zentrum für Neurodegenerative Erkrankungen |0 I:(DE-588)1065079516 |k DZNE |b 21 |6 P:(DE-2719)2811275 |
| 913 | 1 | _ | |a DE-HGF |b Gesundheit |l Erkrankungen des Nervensystems |1 G:(DE-HGF)POF3-340 |0 G:(DE-HGF)POF3-344 |3 G:(DE-HGF)POF3 |2 G:(DE-HGF)POF3-300 |4 G:(DE-HGF)POF |v Clinical and Health Care Research |x 0 |
| 913 | 1 | _ | |a DE-HGF |b Gesundheit |l Erkrankungen des Nervensystems |1 G:(DE-HGF)POF3-340 |0 G:(DE-HGF)POF3-345 |3 G:(DE-HGF)POF3 |2 G:(DE-HGF)POF3-300 |4 G:(DE-HGF)POF |v Population Studies and Genetics |x 1 |
| 913 | 2 | _ | |a DE-HGF |b Programmungebundene Forschung |l ohne Programm |1 G:(DE-HGF)POF4-890 |0 G:(DE-HGF)POF4-899 |3 G:(DE-HGF)POF4 |2 G:(DE-HGF)POF4-800 |4 G:(DE-HGF)POF |v ohne Topic |x 0 |
| 914 | 1 | _ | |y 2020 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0160 |2 StatID |b Essential Science Indicators |d 2020-09-04 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)1190 |2 StatID |b Biological Abstracts |d 2020-09-04 |
| 915 | _ | _ | |a WoS |0 StatID:(DE-HGF)0113 |2 StatID |b Science Citation Index Expanded |d 2020-09-04 |
| 915 | _ | _ | |a National-Konsortium |0 StatID:(DE-HGF)0430 |2 StatID |d 2022-11-23 |w ger |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0200 |2 StatID |b SCOPUS |d 2022-11-23 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0300 |2 StatID |b Medline |d 2022-11-23 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0199 |2 StatID |b Clarivate Analytics Master Journal List |d 2022-11-23 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0150 |2 StatID |b Web of Science Core Collection |d 2022-11-23 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)1050 |2 StatID |b BIOSIS Previews |d 2022-11-23 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)1110 |2 StatID |b Current Contents - Clinical Medicine |d 2022-11-23 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)1030 |2 StatID |b Current Contents - Life Sciences |d 2022-11-23 |
| 915 | _ | _ | |a JCR |0 StatID:(DE-HGF)0100 |2 StatID |b J NEUROL NEUROSUR PS : 2021 |d 2022-11-23 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0600 |2 StatID |b Ebsco Academic Search |d 2022-11-23 |
| 915 | _ | _ | |a Peer Review |0 StatID:(DE-HGF)0030 |2 StatID |b ASC |d 2022-11-23 |
| 915 | _ | _ | |a IF >= 10 |0 StatID:(DE-HGF)9910 |2 StatID |b J NEUROL NEUROSUR PS : 2021 |d 2022-11-23 |
| 920 | 1 | _ | |0 I:(DE-2719)7000003 |k U Clinical Researchers - München |l U Clinical Researchers - München |x 0 |
| 920 | 1 | _ | |0 I:(DE-2719)1210000 |k AG Gasser 1 |l Parkinson Genetics |x 1 |
| 920 | 1 | _ | |0 I:(DE-2719)1111015 |k AG Höglinger 2 |l Coordinator of Clinical Parkinson Research |x 2 |
| 920 | 1 | _ | |0 I:(DE-2719)1111016 |k Clinical Dementia Research München |l Clinical Dementia Research München |x 3 |
| 980 | _ | _ | |a journal |
| 980 | _ | _ | |a VDB |
| 980 | _ | _ | |a I:(DE-2719)7000003 |
| 980 | _ | _ | |a I:(DE-2719)1210000 |
| 980 | _ | _ | |a I:(DE-2719)1111015 |
| 980 | _ | _ | |a I:(DE-2719)1111016 |
| 980 | _ | _ | |a UNRESTRICTED |
| Library | Collection | CLSMajor | CLSMinor | Language | Author |
|---|