Rare variants in TP73 in a Frontotemporal Dementia cohort link this gene with primary progressive aphasia phenotypes

2022 ◽  
Author(s):  
Miguel Tábuas‐Pereira ◽  
Isabel Santana ◽  
Maria Rosário Almeida ◽  
João Durães ◽  
Marisa Lima ◽  
...  
Keyword(s):  
Frontotemporal Dementia ◽  
Rare Variants ◽  
Primary Progressive Aphasia ◽  
Progressive Aphasia ◽  
Primary Progressive

scholarly journals Executive Dysfunction and Behavioral Symptoms Are Associated with Deficits in Instrumental Activities of Daily Living in Frontotemporal Dementia

2017 ◽  
Vol 43 (1-2) ◽  
pp. 89-99 ◽  
Author(s):  
Negar Moheb ◽  
Mario F. Mendez ◽  
Sarah A. Kremen ◽  
Edmond Teng
Keyword(s):  
Activities Of Daily Living ◽  
Frontotemporal Dementia ◽  
Daily Living ◽  
Primary Progressive Aphasia ◽  
Executive Dysfunction ◽  
Behavioral Symptoms ◽  
Data Set ◽  
Progressive Aphasia ◽  
Primary Progressive ◽  
Instrumental Activities

Background: Deficits in instrumental activities of daily living (ADLs) may be more prominent in behavioral variant frontotemporal dementia (bvFTD) than in nonfluent/agrammatic variant primary progressive aphasia (nfvPPA) or semantic variant primary progressive aphasia (svPPA). It is uncertain whether frontotemporal dementia (FTD) subgroups exhibit different patterns and/or predictors of functional impairment. Methods: We examined data from participants diagnosed with bvFTD (n = 607), svPPA (n = 132), and nfvPPA (n = 155) who were included in the National Alzheimer's Coordinating Center (NACC) Uniform Data Set (UDS) and assessed with the Functional Activities Questionnaire (FAQ). Stepwise multiple linear regression analyses were performed to identify associations between FAQ scores and cognitive/behavioral deficits using the NACC UDS neuropsychological testing battery and the Neuropsychiatric Inventory Questionnaire. Results: FAQ scores were higher in bvFTD than svPPA or nfvPPA. Functional deficits across FTD subtypes differed in severity, but not pattern, and were driven by executive dysfunction and behavioral symptoms. Conclusion: Executive dysfunction and behavioral symptoms underlie instrumental ADL deficits in FTD, which are most prominent in bvFTD.

A patient with agrammatic primary progressive aphasia developing frontotemporal dementia

2015 ◽  
Vol 115 (4) ◽  
pp. 763-766 ◽  
Author(s):  
Fabricio Ferreira de Oliveira ◽  
Lucas Amorim Vieira de Barros ◽  
Paulo Henrique Ferreira Bertolucci
Keyword(s):  
Frontotemporal Dementia ◽  
Primary Progressive Aphasia ◽  
Progressive Aphasia ◽  
Primary Progressive

scholarly journals The APOE Gene Locus in Frontotemporal Dementia and Primary Progressive Aphasia

2011 ◽  
Vol 68 (5) ◽  
Author(s):  
Davide Seripa ◽  
Alessandra Bizzarro ◽  
Francesco Panza ◽  
Adele Acciarri ◽  
Fabio Pellegrini ◽  
...  
Keyword(s):  
Frontotemporal Dementia ◽  
Gene Locus ◽  
Primary Progressive Aphasia ◽  
Apoe Gene ◽  
Progressive Aphasia ◽  
Primary Progressive

scholarly journals The Landscape Montage Technique for diagnosing frontotemporal dementia starting as primary progressive aphasia: a case report

2020 ◽  
Vol 14 (1) ◽  
Author(s):  
Masahiko Takaya ◽  
Kazunari Ishii ◽  
Isao Kubota ◽  
Osamu Shirakawa
Keyword(s):  
Cognitive Impairment ◽  
Mild Cognitive Impairment ◽  
Frontotemporal Dementia ◽  
Primary Progressive Aphasia ◽  
Language Test ◽  
Behavioral Variant Frontotemporal Dementia ◽  
Progressive Aphasia ◽  
Primary Progressive ◽  
Logopenic Aphasia

Abstract Background The Landscape Montage Technique was originally developed by Hisao Nakai, a Japanese psychiatrist, to pursue the possibility and application of a psychotherapeutic approach using drawing for patients with schizophrenia. Drawing was initially adopted to evaluate patients with an impaired ability for verbal expression, particularly for the diagnosis and treatment of patients with schizophrenia. Since its development, the Landscape Montage Technique has been utilized in various clinical settings throughout Japan. This study aimed to evaluate the psychiatric conditions of a patient diagnosed as having primary progressive aphasia using the Landscape Montage Technique at a 3-year follow-up. Case presentation We present the case of a 64-year-old, right-handed Japanese woman initially diagnosed as having logopenic variant primary progressive aphasia or logopenic aphasia. At a 3-year follow-up, logopenic aphasia progressed to behavioral variant frontotemporal dementia or frontotemporal dementia. According to her husband, she began to have speech difficulties approximately 5 years before her first visit. The results of neurocognitive tests suggested mild cognitive impairment or early stages of dementia. Her clinical dementia rating score was 0.5, suggesting a diagnosis of mild cognitive impairment. She had a Raven’s Colored Progressive Matrices score of 31 out of 36, which indicated a nonverbal cognitive ability that was greater than the 90th percentile for her age. The Japanese Standard Language Test of Aphasia, which was performed at two points during the follow-up, indicated the possibility for a diagnosis of primary progressive aphasia given the progression of her aphasia. Based on her clinical symptoms and Japanese Standard Language Test of Aphasia results, a diagnosis of logopenic variant primary progressive aphasia was established. Magnetic resonance imaging revealed severe predominant left frontal and anterior temporal atrophy, as well as bilateral parietal atrophy. Amyloid beta deposition was negative. At the 3-year follow-up, logopenic variant primary progressive aphasia had progressed to behavioral variant frontotemporal dementia. However, the Landscape Montage Technique allowed for the diagnosis of behavioral variant frontotemporal dementia only 2 years after baseline. Conclusions The present study showed that the Landscape Montage Technique can be useful for diagnosing behavioral variant frontotemporal dementia that starts as logopenic variant primary progressive aphasia at earlier stages.

scholarly journals Differences in Sex Distribution Between Genetic and Sporadic Frontotemporal Dementia

2021 ◽  
pp. 1-9
Author(s):  
Sterre C.M. de Boer ◽  
Lina Riedl ◽  
Sven J. van der Lee ◽  
Markus Otto ◽  
Sarah Anderl-Straub ◽  
...  
Keyword(s):  
Frontotemporal Dementia ◽  
Primary Progressive Aphasia ◽  
The Other ◽  
Genetic Mutations ◽  
Sex Distribution ◽  
Progressive Aphasia ◽  
Clinical Criteria ◽  
Primary Progressive ◽  
Sporadic Cases ◽  
Semantic Variant

Background: Reported sex distributions differ between frontotemporal dementia (FTD) cohorts. Possible explanations are the evolving clinical criteria of FTD and its subtypes and the discovery of FTD causal genetic mutations that has resulted in varying demographics. Objective: Our aim was to determine the sex distribution of sporadic and genetic FTD cases and its subtypes in an international cohort. Methods: We included 910 patients with behavioral variant frontotemporal dementia (bvFTD; n = 654), non-fluent variant primary progressive aphasia (nfvPPA; n = 99), semantic variant primary progressive aphasia (svPPA; n = 117), and right temporal variant frontotemporal dementia (rtvFTD; n = 40). We compared sex distribution between genetic and sporadic FTD using χ2-tests. Results: The genetic FTD group consisted of 51.2% males, which did not differ from sporadic FTD (57.8% male, p = 0.08). In the sporadic bvFTD subgroup, males were predominant in contrast to genetic bvFTD (61.6% versus 52.9% males, p = 0.04). In the other clinical FTD subgroups, genetic cases were underrepresented and within the sporadic cases sex distribution was somewhat equal. Conclusion: The higher male prevalence in sporadic bvFTD may provide important clues for its differential pathogenesis and warrants further research.

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