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000153442 0247_ $$2doi$$a10.1136/jnnp-2020-322987
000153442 0247_ $$2ISSN$$a0022-3050
000153442 0247_ $$2ISSN$$a0266-8637
000153442 0247_ $$2ISSN$$a0368-329X
000153442 0247_ $$2ISSN$$a1468-330X
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000153442 0247_ $$2pmid$$apmid:32769115
000153442 0247_ $$2ISSN$$a2753-0477
000153442 0247_ $$2ISSN$$a2753-0485
000153442 037__ $$aDZNE-2020-01439
000153442 041__ $$aEnglish
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000153442 1001_ $$00000-0002-3043-9773$$aTavares, Tamara Paulo$$b0
000153442 245__ $$aEarly symptoms in symptomatic and preclinical genetic frontotemporal lobar degeneration
000153442 260__ $$aLondon$$bBMJ Publishing Group$$c2020
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000153442 520__ $$aObjectives 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
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000153442 650_2 $$2MeSH$$aAdult
000153442 650_2 $$2MeSH$$aC9orf72 Protein: genetics
000153442 650_2 $$2MeSH$$aFemale
000153442 650_2 $$2MeSH$$aFrontotemporal Dementia: diagnosis
000153442 650_2 $$2MeSH$$aFrontotemporal Dementia: genetics
000153442 650_2 $$2MeSH$$aHeterozygote
000153442 650_2 $$2MeSH$$aHumans
000153442 650_2 $$2MeSH$$aMale
000153442 650_2 $$2MeSH$$aMiddle Aged
000153442 650_2 $$2MeSH$$aMutation
000153442 650_2 $$2MeSH$$aProdromal Symptoms
000153442 650_2 $$2MeSH$$aProgranulins: genetics
000153442 650_2 $$2MeSH$$atau Proteins: genetics
000153442 7001_ $$aMitchell, Derek G V$$b1
000153442 7001_ $$aColeman, Kristy KL$$b2
000153442 7001_ $$aColeman, Brenda L$$b3
000153442 7001_ $$aShoesmith, Christen L$$b4
000153442 7001_ $$aButler, Christopher R$$b5
000153442 7001_ $$aSantana, Isabel$$b6
000153442 7001_ $$0P:(DE-HGF)0$$aDanek, Adrian$$b7
000153442 7001_ $$aGerhard, Alexander$$b8
000153442 7001_ $$ade Mendonca, Alexandre$$b9
000153442 7001_ $$00000-0001-9340-9814$$aBorroni, Barbara$$b10
000153442 7001_ $$aTartaglia, Maria Carmela$$b11
000153442 7001_ $$aGraff, Caroline$$b12
000153442 7001_ $$aGalimberti, Daniela$$b13
000153442 7001_ $$aTagliavini, Fabrizio$$b14
000153442 7001_ $$aMoreno, Fermin$$b15
000153442 7001_ $$aFrisoni, Giovanni$$b16
000153442 7001_ $$00000-0001-7216-8679$$aRowe, James Benedict$$b17
000153442 7001_ $$0P:(DE-2719)2811659$$aLevin, Johannes$$b18$$udzne
000153442 7001_ $$00000-0001-6278-6844$$aVan Swieten, John Cornelis$$b19
000153442 7001_ $$00000-0002-6647-5944$$aOtto, Markus$$b20
000153442 7001_ $$0P:(DE-2719)2811275$$aSynofzik, Matthis$$b21$$udzne
000153442 7001_ $$aSanchez-Valle, Raquel$$b22
000153442 7001_ $$aVandenberghe, Rik$$b23
000153442 7001_ $$aLaforce, Robert Jr$$b24
000153442 7001_ $$aGhidoni, Roberta$$b25
000153442 7001_ $$aSorbi, Sandro$$b26
000153442 7001_ $$aDucharme, Simon$$b27
000153442 7001_ $$aMasellis, Mario$$b28
000153442 7001_ $$aRohrer, Jonathan$$b29
000153442 7001_ $$00000-0003-4461-7427$$aFinger, Elizabeth$$b30$$eCorresponding author
000153442 773__ $$0PERI:(DE-600)1480429-3$$a10.1136/jnnp-2020-322987$$gVol. 91, no. 9, p. 975 - 984$$n9$$p975 - 984$$tJournal of neurology, neurosurgery, and psychiatry$$v91$$x1468-330X$$y2020
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