scholarly journals DAPHNE: A New Tool for the Assessment of the Behavioral Variant of Frontotemporal Dementia

2015 ◽  
Vol 5 (3) ◽  
pp. 503-516 ◽  
Author(s):  
Claire Boutoleau-Bretonnière ◽  
Christelle Evrard ◽  
Jean Benoît Hardouin ◽  
Laëtitia Rocher ◽  
Tiphaine Charriau ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Bipolar Disorder ◽  
Progressive Supranuclear Palsy ◽  
Frontotemporal Dementia ◽  
Clinical Features ◽  
External Validity ◽  
Diagnostic Performance ◽  
Validity And Reliability ◽  
Clinical Tools ◽  
Behavioral Scale

Background: The diagnosis of behavioral variant of frontotemporal dementia (bvFTD) relies primarily on clinical features and remains challenging. The specificity of the recently revised criteria can be disappointing, justifying development of new clinical tools. Objective: We produced a behavioral inventory named DAPHNE. This scale (adapted from Rascovsky's criteria) explores six domains: disinhibition, apathy, perseverations, hyperorality, personal neglect and loss of empathy. It is composed of ten items (five answer categories). The aim was (1) to assess the validity and reliability of DAPHNE and (2) to evaluate its contribution in differentiating patients. Methods: Two scores were computed: DAPHNE-6 (screening) from the six domains and DAPHNE-40 (diagnosis) from the ten items. Reliability and reproducibility were assessed. External validity was studied with the Frontal Behavioral Inventory (FBI) and the Frontotemporal Behavioral Scale (FBS). Finally, the diagnostic performance of DAPHNE was compared to revised criteria, FBI and FBS. Results: DAPHNE was administered to the caregivers of 89 patients, 36 with bvFTD, 22 with Alzheimer's disease, 15 with progressive supranuclear palsy and 16 with bipolar disorder. Reliability and reproducibility were excellent, as was external validity. DAPHNE-6 allowed bvFTD diagnosis (score ≥4) with a sensitivity of 92%, while DAPHNE-40 (score ≥15) had a specificity of 92%. Conclusion: We demonstrate excellent psychometric features for DAPHNE. This quick tool could help for both diagnosing and screening bvFTD.

Clinical and Genetic Aspects of Progressive Supranuclear Palsy

1998 ◽  
Vol 11 (2) ◽  
pp. 107-114 ◽  
Author(s):  
Irene Litvan ◽  
Michael Hutton
Keyword(s):  
Linkage Disequilibrium ◽  
Diagnostic Accuracy ◽  
Progressive Supranuclear Palsy ◽  
Frontotemporal Dementia ◽  
Clinical Features ◽  
Neuronal Degeneration ◽  
Chromosome 17 ◽  
Clinical Criteria ◽  
Degenerative Parkinsonism ◽  
Research Studies

Progressive supranuclear palsy (PSP) is, after Parkinson's disease, the most common form of degenerative parkinsonism. Several clinical features are used in the recognition of this disorder as well as in the differentiation from related disorders. Clinical criteria that could increase diagnostic accuracy in research studies are also emphasized. Due to a better understanding of the genetic aspects of PSP, recent studies have suggested that it is a recessive disorder in linkage disequilibrium with the tau (τ) gene, rather than a sporadic disorder. In addition, the recent identification of mutations in the τ gene associated with a similar neurodegenerative condition (frontotemporal dementia and parkinsonism linked to chromosome 17) has further strengthened the argument that τ dysfunction is somehow involved in the pathogenesis of PSP. Nongenetic factors that could trigger or perpetuate the cascade of events leading to neuronal degeneration in PSP are also reviewed.

scholarly journals End Stage Clinical Features and Cause of Death of Behavioral Variant Frontotemporal Dementia and Young-Onset Alzheimer’s Disease

2020 ◽  
Vol 77 (3) ◽  
pp. 1169-1180
Author(s):  
Marie-Paule E. van Engelen ◽  
Flora T. Gossink ◽  
Lieke S. de Vijlder ◽  
Jan R.A. Meursing ◽  
Philip Scheltens ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Frontotemporal Dementia ◽  
Cause Of Death ◽  
Clinical Features ◽  
Pharmacological Treatment ◽  
Family Members ◽  
Behavioral Variant Frontotemporal Dementia ◽  
Young Onset ◽  
End Stage

Background: Limited literature exists regarding the clinical features of end stage behavioral variant frontotemporal dementia (bvFTD). This data is indispensable to inform and prepare family members as well as professional caregivers for the expected disease course and to anticipate with drug-based and non-pharmacological treatment strategies. Objective: The aim of the present study was to describe end stage bvFTD in a broad explorative manner and to subsequently evaluate similarities and dissimilarities with the end stage of the most prevalent form of young-onset dementia, Alzheimer’s disease (yoAD). Methods: We analyzed medical files on patients, using a mixed model of qualitative and quantitative approaches. Included were previously deceased patients with probable bvFTD and probable yoAD. End stage was defined as the last 6 months prior to death. Primary outcome measures comprised somatic, neurological, and psychiatric symptoms and the secondary outcome measure was cause of death. Results: Out of 89 patients, a total of 30 patients were included (bvFTD; n = 12, yoAD; n = 18). Overall, the end stages of bvFTD and yoAD were characterized by a broad spectrum of clinical symptoms including severe autonomic dysfunction and an increased muscle tone. Patients with bvFTD displayed more mutism compared with yoAD while compulsiveness was only present in bvFTD. Conclusion: Our study describes the full clinical spectrum of end stage bvFTD and yoAD. In this study, symptoms extend far beyond the initial behavioral and cognitive features. By taking both somatic, psychiatric, and neurological features into account, family members and professional caregivers may anticipate (non) pharmacological treatment.

scholarly journals Redefining the multidimensional clinical phenotypes of frontotemporal lobar degeneration syndromes

Brain ◽  
2020 ◽  
Vol 143 (5) ◽  
pp. 1555-1571 ◽  
Author(s):  
Alexander G Murley ◽  
Ian Coyle-Gilchrist ◽  
Matthew A Rouse ◽  
P Simon Jones ◽  
Win Li ◽  
...  
Keyword(s):  
Progressive Supranuclear Palsy ◽  
Frontotemporal Dementia ◽  
Diagnostic Criteria ◽  
Clinical Features ◽  
Frontotemporal Lobar Degeneration ◽  
Clinical Phenotype ◽  
Principal Component ◽  
Corticobasal Syndrome ◽  
Diagnostic Features ◽  
Cross Sectional

Abstract The syndromes caused by frontotemporal lobar degeneration have highly heterogeneous and overlapping clinical features. There has been great progress in the refinement of clinical diagnostic criteria in the past decade, but we propose that a better understanding of aetiology, pathophysiology and symptomatic treatments can arise from a transdiagnostic approach to clinical phenotype and brain morphometry. In a cross-sectional epidemiological study, we examined 310 patients with a syndrome likely to be caused by frontotemporal lobar degeneration, including behavioural variant frontotemporal dementia, non-fluent, and semantic variants of primary progressive aphasia (PPA), progressive supranuclear palsy and corticobasal syndrome. We included patients with logopenic PPA and those who met criteria for PPA but not a specific subtype. To date, 49 patients have a neuropathological diagnosis. A principal component analysis identified symptom dimensions that broadly recapitulated the core features of the main clinical syndromes. However, the subject-specific scores on these dimensions showed considerable overlap across the diagnostic groups. Sixty-two per cent of participants had phenotypic features that met the diagnostic criteria for more than one syndrome. Behavioural disturbance was prevalent in all groups. Forty-four per cent of patients with corticobasal syndrome had progressive supranuclear palsy-like features and 30% of patients with progressive supranuclear palsy had corticobasal syndrome-like features. Many patients with progressive supranuclear palsy and corticobasal syndrome had language impairments consistent with non-fluent variant PPA while patients with behavioural variant frontotemporal dementia often had semantic impairments. Using multivariate source-based morphometry on a subset of patients (n = 133), we identified patterns of covarying brain atrophy that were represented across the diagnostic groups. Canonical correlation analysis of clinical and imaging components found three key brain-behaviour relationships, with a continuous spectrum across the cohort rather than discrete diagnostic entities. In the 46 patients with follow-up (mean 3.6 years) syndromic overlap increased with time. Together, these results show that syndromes associated with frontotemporal lobar degeneration do not form discrete mutually exclusive categories from their clinical features or structural brain changes, but instead exist in a multidimensional spectrum. Patients often manifest diagnostic features of multiple disorders while deficits in behaviour, movement and language domains are not confined to specific diagnostic groups. It is important to recognize individual differences in clinical phenotype, both for clinical management and to understand pathogenic mechanisms. We suggest that a transdiagnostic approach to the spectrum of frontotemporal lobar degeneration syndromes provides a useful framework with which to understand disease aetiology, progression, and heterogeneity and to target future treatments to a higher proportion of patients.

scholarly journals Morbid risk for schizophrenia in first-degree relatives of people with frontotemporal dementia

2010 ◽  
Vol 197 (1) ◽  
pp. 28-35 ◽  
Author(s):  
Delphine Schoder ◽  
Didier Hannequin ◽  
Olivier Martinaud ◽  
Gaëlle Opolczynski ◽  
Lucie Guyant-Maréchal ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Frontotemporal Dementia ◽  
Clinical Features ◽  
Sequencing Analysis ◽  
First Degree Relatives ◽  
Causal Mutation ◽  
Mixed Families

BackgroundFamilial co-occurrence of frontotemporal dementia and schizophrenia has never been investigated.AimsTo test the hypothesis that frontotemporal dementia and schizophrenia might have a common aetiology in some families in which both syndromes coexist (mixed families).MethodThe morbid risk for schizophrenia, calculated in first-degree relatives of 100 frontotemporal dementia probands, was compared with that calculated in first-degree relatives of 100 Alzheimer's disease probands. In mixed families, sequencing analysis of known frontotemporal dementia genes and detailed phenotype characterisation of individuals with frontotemporal dementia and schizophrenia were performed.ResultsThe morbid risk for schizophrenia was significantly higher in relatives of frontotemporal dementia probands (1.35, s.e. = 0.45) than in relatives of Alzheimer's disease probands (0.32, s.e. = 0.22). Ten mixed families were characterised. In three of them a frontotemporal dementia causal mutation was identified that was present in individuals with schizophrenia. Several specific clinical features were noted in people with schizophrenia and frontotemporal dementia in mixed families.ConclusionsCo-occurrence of schizophrenia and frontotemporal dementia could indicate, in some families, a common aetiology for both conditions.

scholarly journals Azul de Metileno na Paralisia Supranuclear Progressiva, uma possibilidade?

2020 ◽  
Vol 28 ◽  
pp. 1-18
Author(s):  
Celmir de Oliveira Vilaça ◽  
Bruno Lima Pessoa ◽  
Marco Orsini ◽  
Carlos Henrique Melo Reis ◽  
Marco Antonio Alves Azizi ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Methylene Blue ◽  
Progressive Supranuclear Palsy ◽  
Frontotemporal Dementia ◽  
Tau Protein ◽  
Corticobasal Degeneration

Objetivo: Discutir a hipótese do uso do azul de metileno na Paralisia Supranuclear Progressiva. Método: Revisão não sistemática empregando as palavras-chaves “methylene blue” associada aos termos “tauopathies, “tau protein”, “Alzheimer’s Disease”, “Frontotemporal Dementia”, “Progressive Supranuclear Palsy” e “Corticobasal Degeneration”. Discussão: Foram utilizados 45 artigos, todos em inglês para a confecção deste artigo. Conclusão: O uso de inibidores de agregação proteica como o azul de metileno representa importante área de pesquisa para tratamento das tauopatias. Trabalhos realizados com o uso do azul de metileno em tauopatias como a Doença de Alzheimer e a demência frontotemporal sugerem a possibilidade de seu uso na Paralisia Supranuclear Progressiva.

[P1-281]: DIAGNOSTIC PERFORMANCE USING CSF YKL-40 IN ALZHEIMER'S DISEASE AND FRONTOTEMPORAL DEMENTIA

2017 ◽  
Vol 13 (7S_Part_7) ◽  
pp. P357-P358
Author(s):  
Filippo Baldacci ◽  
Nicola Toschi ◽  
Simone Lista ◽  
Kaj Blennow ◽  
Henrik Zetterberg ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Frontotemporal Dementia ◽  
Diagnostic Performance
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