The APOE Gene Locus in Frontotemporal Dementia and Primary Progressive Aphasia

Seripa, Davide; Bizzarro, Alessandra; Acciarri, Adele; Pellegrini, Fabio; Masullo, Carlo

doi:10.1001/archneurol.2011.90

Cited by 26 publications

(22 citation statements)

References 33 publications

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“…In our sample, we included clinically defined FTD cases, with likely either tau-positive or tau-negative inclusions; therefore, it is not surprising that phospho-tau levels were not related to prognosis in this highly heterogeneous sample. Finally, we tested the ApoE ε4 genotype, as some studies suggested it as a risk factor for FTD [39,40,41], but we did not find any significant association with patients' outcomes.…”

Section: Discussionmentioning

confidence: 75%

Cerebrospinal Fluid Tau Levels Predict Prognosis in Non-Inherited Frontotemporal Dementia

Borroni

Benussi²,

Cosseddu³

et al. 2013

Neurodegener Dis

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Background: The course of frontotemporal dementia (FTD) is heterogeneous and no predictors of survival are currently available. Cerebrospinal fluid (CSF) tau dosage has been demonstrated to be useful in predicting outcome over time in a number of neurological disorders. Objective: To assess CSF tau levels in FTD and to evaluate their prognostic value. Methods: Seventy-seven FTD patients with no mutations in known causative genes were consecutively enrolled, and CSF tau and phospho-tau levels analysed. Each patient was reassessed over time, and survival (i.e. death/bedridden and otherwise) was evaluated. The survival analysis was carried out by Cox proportional hazards regression models. Results: Patients with high CSF tau levels (≥400 pg/ml) had shorter survival than those with low CSF tau levels [hazard ratio (HR) = 3.406; 95% CI: 1.151-10.077; Wald χ² = 4.902; d.f. = 1; p = 0.027]. The association between tau levels and survival probability was confirmed after adjusting for age, gender, clinical phenotype and FTD clinical dementia rating at enrolment (HR = 3.769; 95% CI: 1.143-12.433; Wald χ² = 4.748; d.f. = 1; p = 0.029). Neither demographic or clinical characteristics nor CSF phospho-tau levels or apolipoprotein E genotype were significantly associated with prognosis. Conclusions: This study argues that CSF tau levels may be considered in FTD to predict patients' outcome. Establishing in vivo prognostic biomarkers is mandatory to define homogeneous groups for inclusion in future clinical trials and to monitor the effectiveness of future therapeutic approaches.

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Section: Discussionmentioning

confidence: 75%

Cerebrospinal Fluid Tau Levels Predict Prognosis in Non-Inherited Frontotemporal Dementia

Borroni

Benussi²,

Cosseddu³

et al. 2013

Neurodegener Dis

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“…Gustafson et al [18] and Stevens et al [19] reported higher frequencies of the ε4 allele and the ε4ε4 genotype in FTD. Higher prevalence of the ε4 allele in FTD and primary progressive aphasia has recently been reported by Seripa et al [20]. However, others have reported no correlation between the ε4 allele and FTD [21-24].…”

Section: Introductionmentioning

confidence: 90%

Apolipoprotein Ε ε4 Frequency Is Increased among Chinese Patients with Frontotemporal Dementia and Alzheimer's Disease

Ji¹,

Liu²,

Huo

et al. 2013

Dement Geriatr Cogn Disord

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The relationship between the apolipoprotein E (ApoE) ε4 genotype and an increased risk of developing Alzheimer's disease (AD) has been well established in Caucasians but is less established among other ethnicities. ApoE ε4 has also been associated with several other neurological disorders. Whether ApoΕ4 ε4 is a risk factor for frontotemporal dementia (FTD) remains controversial. This study examined 432 patients with AD, 62 with FTD, and 381 sex- and age-matched controls. The ApoE ε4 allele frequency was significantly increased among patients in the AD and FTD groups compared with controls. The frequency of the ApoΕ ε4 allele was 24.86% in late-onset AD (p < 0.01), 18.02% in early-onset AD (p < 0.01), 16.13% in FTD (p < 0.01), and 7.34% in controls. ApoΕ ε4 prevalence was similar in the FTD and AD groups. The present study suggests that the ApoE ε4 allele is a risk factor for both disorders.

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“…Apolipoprotein E is one such genetic factor influencing AD, but its role in FTD is unclear and controversial [Bernardi et al, 2006; Seripa et al, 2011; Hernández et al, 2014]. Lee et al [2015] have reported three genes (SNX25, PDLIM3, SORBS2) modifying age of onset in a specific mutation (G206A) in PSEN1 in familial AD, but the effect of these genes in FTD is unknown.…”

Section: Discussionmentioning

confidence: 99%

Unusually long duration and delayed penetrance in a family with FTD and mutation in MAPT (V337M)

Domoto‐Reilly

Davis

Keene

et al. 2016

American J of Med Genetics Pt B

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Mutations in the MAPT gene coding for the tau protein are one of the most common causes of familial frontotemporal dementia (FTD). In a previously described family with the V337M mutation in MAPT, we now report an affected woman who died at age 92 with a >40 year duration of symptoms, more than three times the mean disease duration in her family (13.8 years). Neuropathology showed the typical findings of a diffuse tauopathy. Conversely, her 67-year-olds on with the same mutation remains asymptomatic more than 15 years beyond the mean age of onset in the family (51.5 years). These two cases demonstrate the marked variability in onset and duration of familial FTD and underscore the difficulties of discussing these issues with patients and families. The presumed genetic and environmental factors influencing these parameters remain largely unknown.

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The APOE Gene Locus in Frontotemporal Dementia and Primary Progressive Aphasia

Cited by 26 publications

References 33 publications

Cerebrospinal Fluid Tau Levels Predict Prognosis in Non-Inherited Frontotemporal Dementia

Cerebrospinal Fluid Tau Levels Predict Prognosis in Non-Inherited Frontotemporal Dementia

Apolipoprotein Ε ε4 Frequency Is Increased among Chinese Patients with Frontotemporal Dementia and Alzheimer's Disease

Unusually long duration and delayed penetrance in a family with FTD and mutation in MAPT (V337M)

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The APOE Gene Locus in Frontotemporal Dementia and Primary Progressive Aphasia

Cited by 26 publications

References 33 publications

Cerebrospinal Fluid Tau Levels Predict Prognosis in Non-Inherited Frontotemporal Dementia

Cerebrospinal Fluid Tau Levels Predict Prognosis in Non-Inherited Frontotemporal Dementia

Apolipoprotein &#x0395; ε4 Frequency Is Increased among Chinese Patients with Frontotemporal Dementia and Alzheimer's Disease

Unusually long duration and delayed penetrance in a family with FTD and mutation in MAPT (V337M)

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Apolipoprotein Ε ε4 Frequency Is Increased among Chinese Patients with Frontotemporal Dementia and Alzheimer's Disease