Phenotypic heterogeneity of the rare R377W PSEN1 mutation: Late‐onset presentation with mixed Alzheimer’s and frontotemporal dementia features

2020 ◽  
Vol 16 (S3) ◽  
Author(s):  
Marta Scarioni ◽  
Andrea Arighi ◽  
Chiara Fenoglio ◽  
Maria Serpente ◽  
Emanuela Rotondo ◽  
...  
Keyword(s):  
Frontotemporal Dementia ◽  
Late Onset ◽  
Phenotypic Heterogeneity ◽  
Psen1 Mutation

scholarly journals Late‐onset presentation and phenotypic heterogeneity of the rare R377W PSEN1 mutation

2020 ◽  
Vol 27 (12) ◽  
pp. 2630-2634
Author(s):  
M. Scarioni ◽  
A. Arighi ◽  
C. Fenoglio ◽  
F. Sorrentino ◽  
M. Serpente ◽  
...  
Keyword(s):  
Late Onset ◽  
Phenotypic Heterogeneity ◽  
Psen1 Mutation

scholarly journals Phenotypic Heterogeneity of Monogenic Frontotemporal Dementia

2015 ◽  
Vol 7 ◽  
Author(s):  
Alberto Benussi ◽  
Alessandro Padovani ◽  
Barbara Borroni
Keyword(s):  
Frontotemporal Dementia ◽  
Phenotypic Heterogeneity

scholarly journals Very late-onset behavioral variant frontotemporal dementia

2013 ◽  
Vol 7 (1) ◽  
pp. 136-139
Author(s):  
Henrique Cerqueira Guimarães ◽  
Tatiana de Carvalho Espindola
Keyword(s):  
Case Report ◽  
Frontotemporal Dementia ◽  
Frontotemporal Lobar Degeneration ◽  
Clinical Presentation ◽  
Late Onset ◽  
Ground Level ◽  
Dementia Diagnosis ◽  
Behavioral Variant Frontotemporal Dementia ◽  
Genetically Determined ◽  
Late Onset Dementia

ABSTRACT Current concepts regarding frontotemporal lobar degeneration (FTLD) have evolved rapidly in recent years. Genetically determined FTLD cohorts have broadened our knowledge pertaining to its clinical presentation, neuroimaging findings and demographics. In this study we present a case report of a patient diagnosed with behavioral variant frontotemporal dementia diagnosis in her nineties during hospital admission for a ground-level fall. We believe this case reinforces the pervasive nature of this clinical entity, and may contribute to an increased awareness of this diagnostic possibility in late-onset dementia.

Clinical and Neuropsychological Comparisons of Early-Onset Versus Late-Onset Frontotemporal Dementia: A CREDOS-FTD Study

2015 ◽  
Vol 45 (2) ◽  
pp. 599-608 ◽  
Author(s):  
Byoung Seok Ye ◽  
Seong Hye Choi ◽  
Seol-Heui Han ◽  
SangYun Kim ◽  
Dong-Won Yang ◽  
...  
Keyword(s):  
Frontotemporal Dementia ◽  
Early Onset ◽  
Late Onset

scholarly journals The Missing Heritability of Sporadic Frontotemporal Dementia: New Insights from Rare Variants in Neurodegenerative Candidate Genes

2019 ◽  
Vol 20 (16) ◽  
pp. 3903 ◽  
Author(s):  
Miriam Ciani ◽  
Cristian Bonvicini ◽  
Catia Scassellati ◽  
Matteo Carrara ◽  
Carlo Maj ◽  
...  
Keyword(s):  
Neurodegenerative Diseases ◽  
Frontotemporal Dementia ◽  
Candidate Genes ◽  
Early Onset ◽  
Genetic Factors ◽  
Rare Variants ◽  
Late Onset ◽  
Genetic Effect ◽  
Lewy Body Dementia ◽  
Missing Heritability

Frontotemporal dementia (FTD) is a common form of dementia among early-onset cases. Several genetic factors for FTD have been revealed, but a large proportion of FTD cases still have an unidentified genetic origin. Recent studies highlighted common pathobiological mechanisms among neurodegenerative diseases. In the present study, we investigated a panel of candidate genes, previously described to be associated with FTD and/or other neurodegenerative diseases by targeted next generation sequencing (NGS). We focused our study on sporadic FTD (sFTD), devoid of disease-causing mutations in GRN, MAPT and C9orf72. Since genetic factors have a substantially higher pathogenetic contribution in early onset patients than in late onset dementia, we selected patients with early onset (<65 years). Our study revealed that, in 50% of patients, rare missense potentially pathogenetic variants in genes previously associated with Alzheimer’s disease, Parkinson disease, amyotrophic lateral sclerosis and Lewy body dementia (GBA, ABCA7, PARK7, FUS, SORL1, LRRK2, ALS2), confirming genetic pleiotropy in neurodegeneration. In parallel, a synergic genetic effect on FTD is suggested by the presence of variants in five different genes in one single patient. Further studies employing genome-wide approaches might highlight pathogenic variants in novel genes that explain the still missing heritability of FTD.

Is early-onset clinically different from late-onset frontotemporal dementia?

2008 ◽  
Vol 15 (12) ◽  
pp. 1412-1415 ◽  
Author(s):  
B. Borroni ◽  
C. Agosti ◽  
G. Bellelli ◽  
A. Padovani
Keyword(s):  
Frontotemporal Dementia ◽  
Early Onset ◽  
Late Onset

Impact of Imaging and Cerebrospinal Fluid Biomarkers on Behavioral Variant Frontotemporal Dementia Diagnosis within a Late-Onset Frontal Lobe Syndrome Cohort

2015 ◽  
Vol 41 (1-2) ◽  
pp. 16-26 ◽  
Author(s):  
Welmoed A. Krudop ◽  
Annemiek Dols ◽  
Cora J. Kerssens ◽  
Niels D. Prins ◽  
Christiane Möller ◽  
...  
Keyword(s):  
Cerebrospinal Fluid ◽  
Frontotemporal Dementia ◽  
Frontal Lobe ◽  
Fdg Pet ◽  
Late Onset ◽  
Behavioral Variant Frontotemporal Dementia ◽  
Diagnostic Certainty ◽  
18F Fdg ◽  
Frontal Lobe Syndrome ◽  
The Impact

Background: The criteria for behavioral variant frontotemporal dementia (bvFTD) incorporate MRI and [18F]-FDG-PET. Cerebrospinal fluid (CSF) analysis is merely advised for excluding Alzheimer's disease. Aims: We aimed to assess the impact of biomarkers on diagnostic certainty and contingent changes of bvFTD diagnosis within the clinically relevant neuropsychiatric differential diagnosis of subjects with a late-onset frontal lobe syndrome (LOF). Methods: We included 137 patients with LOF, aged 45-75 years, 72% males. Biomarker disclosure was considered contributing after any substantial difference in diagnostic certainty or a diagnostic change. Percentages of contributing biomarkers were compared between three major diagnostic groups (bvFTD, psychiatry, other neurological disorders). Certainty levels in stable diagnostic groups were compared to those with a diagnostic change. Results: Biomarkers contributed in 53, 60 and 41% of the LOF patients for MRI, [18F]-FDG-PET and CSF, respectively. Biomarkers changed the diagnosis in 14% of cases towards bvFTD and in 13% from bvFTD into an alternative. Those that changed had a lower level of a priori diagnostic certainty compared to stable diagnoses. Conclusion: Our study not only supports the widely accepted use of MRI and [18F]-FDG-PET in diagnosing or excluding bvFTD, but also shows that CSF biomarkers aid clinicians in the diagnostic process.

Neuropsychological differentiation of late onset schizophrenia and frontotemporal dementia

2001 ◽  
Vol 6 (1) ◽  
pp. 63-77 ◽  
Author(s):  
Konstantine K. Zakzanis ◽  
Aneta Kielar ◽  
Donald A. Young ◽  
Mark Boulos
Keyword(s):  
Frontotemporal Dementia ◽  
Late Onset

scholarly journals Anosognosia in Early- and Late-Onset Dementia and Its Association With Neuropsychiatric Symptoms

2021 ◽  
Vol 12 ◽  
Author(s):  
Manuela Tondelli ◽  
Chiara Galli ◽  
Giulia Vinceti ◽  
Luigi Fiondella ◽  
Simone Salemme ◽  
...  
Keyword(s):  
Regression Analysis ◽  
Disease Progression ◽  
Frontotemporal Dementia ◽  
Late Onset ◽  
Neuropsychiatric Symptoms ◽  
Diagnostic Delay ◽  
Early Onset Dementia ◽  
Dementia Patients ◽  
Clinical Variants ◽  
Late Onset Dementia

Background: The symptom anosognosia or unawareness of disease in dementia has mainly been studied in patients with late-onset dementia (LOD, ≥65 years), whereas little is known on whether it is also present in patients with early-onset dementia (EOD, &lt;65 years). We aimed at investigating differences in anosognosia between LOD and EOD, by also studying its association with different clinical variants of EOD and the presence of neuropsychiatric symptoms.Methods: A total of 148 patients, 91 EOD and 57 LOD, were recruited and underwent extended clinical assessment and caregiver interview that included questionnaires aimed at measuring anosognosia and neuropsychiatric symptoms. Differences in anosognosia between EOD and LOD and between subgroups with different clinical variants were investigated, as well as correlation between anosognosia and neuropsychiatric symptoms. A regression analysis was applied to explore the association between anosognosia and development of neuropsychiatric symptoms during disease progression.Results: Median levels of anosognosia were not significantly different between EOD and LOD. Anosognosia increased overtime with disease progression and was higher in frontotemporal dementia patients or, more precisely, in frontotemporal dementia and Alzheimer's disease variants associated with involvement of the frontal lobes. Higher levels of early anosognosia were associated with higher frequency and severity of subsequent neuropsychiatric symptoms, in particular apathy, later in the course of the disease.Conclusion: Anosognosia is a frequent symptom of EOD, occurring in 94.5% of all-cause EOD, and it is associated with higher risk of developing neuropsychiatric symptoms during disease progression. Recognising anosognosia may be helpful for clinicians and families to reduce diagnostic delay and improve disease managment.

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