scholarly journals The Right Temporal Variant of Frontotemporal Dementia is Not Genetically Sporadic: A Case Series

2021 ◽  
pp. 1-7
Author(s):  
Hulya Ulugut Erkoyun ◽  
Sven J. van der Lee ◽  
Bas Nijmeijer ◽  
Rosalina van Spaendonk ◽  
Anne Nelissen ◽  
...  
Keyword(s):  
Frontotemporal Dementia ◽  
Genetic Variant ◽  
Autosomal Dominant ◽  
Case Series ◽  
Primary Progressive Aphasia ◽  
Clinical Syndrome ◽  
Progressive Aphasia ◽  
Primary Progressive ◽  
Memory Clinics ◽  
The Right

Background: Right temporal variant frontotemporal dementia (rtvFTD) has been generally considered as a right sided variant of semantic variant primary progressive aphasia (svPPA), which is a genetically sporadic disorder. Recently, we have shown that rtvFTD has a unique clinical syndrome compared to svPPA and behavioral variant frontotemporal dementia. Objective: We challenge the assumption that rtvFTD is a sporadic, non-familial variant of FTD by identifying potential autosomal dominant inheritance and related genes in rtvFTD. Methods: We collected all subjects with a diagnosis of FTD or primary progressive aphasia who had undergone genetic screening (n = 284) and subsequently who had a genetic variant (n = 48) with a diagnosis of rtvFTD (n = 6) in 2 specialized memory clinics. Results: Genetic variants in FTD related genes were found in 33% of genetically screened rtvFTD cases; including MAPT (n = 4), GRN (n = 1), and TARDBP (n = 1) genes, whereas only one svPPA case had a genetic variant in our combined cohorts. Additionally, 4 out of 6 rtvFTD subjects had a strong family history for dementia. Conclusion: Our results demonstrate that rtvFTD, unlike svPPA, is not a pure sporadic, but a heterogeneous potential genetic variant of FTD, and screening for genetic causes for FTD should be performed in patients with rtvFTD.

scholarly journals A clinical-radiological framework of the right temporal variant of frontotemporal dementia

Brain ◽  
2020 ◽  
Vol 143 (9) ◽  
pp. 2831-2843 ◽  
Author(s):  
Hulya Ulugut Erkoyun ◽  
Colin Groot ◽  
Ronja Heilbron ◽  
Anne Nelissen ◽  
Jonathan van Rossum ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Frontotemporal Dementia ◽  
Diagnostic Criteria ◽  
Primary Progressive Aphasia ◽  
Progressive Aphasia ◽  
Primary Progressive ◽  
Behavioural Changes ◽  
The Right ◽  
Mental Slowness

Abstract The concept of the right temporal variant of frontotemporal dementia (rtvFTD) is still equivocal. The syndrome accompanying predominant right anterior temporal atrophy has previously been described as memory loss, prosopagnosia, getting lost and behavioural changes. Accurate detection is challenging, as the clinical syndrome might be confused with either behavioural variant FTD (bvFTD) or Alzheimer’s disease. Furthermore, based on neuroimaging features, the syndrome has been considered a right-sided variant of semantic variant primary progressive aphasia (svPPA). Therefore, we aimed to demarcate the clinical and neuropsychological characteristics of rtvFTD versus svPPA, bvFTD and Alzheimer’s disease. Moreover, we aimed to compare its neuroimaging profile against svPPA, which is associated with predominant left anterior temporal atrophy. Of 619 subjects with a clinical diagnosis of frontotemporal dementia or primary progressive aphasia, we included 70 subjects with a negative amyloid status in whom predominant right temporal lobar atrophy was identified based on blinded visual assessment of their initial brain MRI scans. Clinical symptoms were assessed retrospectively and compared with age- and sex-matched patients with svPPA (n = 70), bvFTD (n = 70) and Alzheimer’s disease (n = 70). Prosopagnosia, episodic memory impairment and behavioural changes such as disinhibition, apathy, compulsiveness and loss of empathy were the most common initial symptoms, whereas during the disease course, patients developed language problems such as word-finding difficulties and anomia. Distinctive symptoms of rtvFTD compared to the other groups included depression, somatic complaints, and motor/mental slowness. Aside from right temporal atrophy, the imaging pattern showed volume loss of the right ventral frontal area and the left temporal lobe, which represented a close mirror image of svPPA. Atrophy of the bilateral temporal poles and the fusiform gyrus were associated with prosopagnosia in rtvFTD. Our results highlight that rtvFTD has a unique clinical presentation. Since current diagnostic criteria do not cover specific symptoms of the rtvFTD, we propose a diagnostic tree to be used to define diagnostic criteria and call for an international validation.

Early and Mild Phases of Primary Progressive Aphasia: A Case Series

2017 ◽  
Vol 10 (2) ◽  
pp. 136-142
Author(s):  
Jessica Powell ◽  
James Lendrum ◽  
Rosalind Huff ◽  
Christine Belden ◽  
Marwan N. Sabbagh
Keyword(s):  
Case Series ◽  
Primary Progressive Aphasia ◽  
Progressive Aphasia ◽  
Primary Progressive

scholarly journals Asymmetric TDP pathology in primary progressive aphasia with right hemisphere language dominance

Neurology ◽  
2018 ◽  
Vol 90 (5) ◽  
pp. e396-e403 ◽  
Author(s):  
Garam Kim ◽  
Shahrooz Vahedi ◽  
Tamar Gefen ◽  
Sandra Weintraub ◽  
Eileen H. Bigio ◽  
...  
Keyword(s):  
Right Hemisphere ◽  
Primary Progressive Aphasia ◽  
Cortical Atrophy ◽  
Progressive Aphasia ◽  
Language Dominance ◽  
Primary Progressive ◽  
Activated Microglia ◽  
Unbiased Stereology ◽  
Cortical Regions ◽  
The Right

ObjectiveTo quantitatively examine the regional densities and hemispheric distribution of the 43-kDa transactive response DNA-binding protein (TDP-43) inclusions, neurons, and activated microglia in a left-handed patient with right hemisphere language dominance and logopenic-variant primary progressive aphasia (PPA).MethodsPhosphorylated TDP-43 inclusions, neurons, and activated microglia were visualized with immunohistochemical and histologic methods. Markers were quantified bilaterally with unbiased stereology in language- and memory-related cortical regions.ResultsClinical MRI indicated cortical atrophy in the right hemisphere, mostly in the temporal lobe. Significantly higher densities of TDP-43 inclusions were present in right language-related temporal regions compared to the left or to other right hemisphere regions. The memory-related entorhinal cortex (ERC) and language regions without significant atrophy showed no asymmetry. Activated microglia displayed extensive asymmetry (R > L). A substantial density of neurons remained in all areas and showed no hemispheric asymmetry. However, perikaryal size was significantly smaller in the right hemisphere across all regions except the ERC. To demonstrate the specificity of this finding, sizes of residual neurons were measured in a right-handed case with PPA and were found to be smaller in the language-dominant left hemisphere.ConclusionsThe distribution of TDP-43 inclusions and microglial activation in right temporal language regions showed concordance with anatomic distribution of cortical atrophy and clinical presentation. The results revealed no direct relationship between density of TDP-43 inclusions and activated microglia. Reduced size of the remaining neurons is likely to contribute to cortical atrophy detected by MRI. These findings support the conclusion that there is no obligatory relationship between logopenic PPA and Alzheimer pathology.

Lexical retrieval treatment in primary progressive aphasia: An investigation of treatment duration in a heterogeneous case series

Cortex ◽  
2019 ◽  
Vol 115 ◽  
pp. 133-158 ◽  
Author(s):  
Karen Croot ◽  
Theresa Raiser ◽  
Cathleen Taylor-Rubin ◽  
Leanne Ruggero ◽  
Nibal Ackl ◽  
...  
Keyword(s):  
Treatment Duration ◽  
Case Series ◽  
Primary Progressive Aphasia ◽  
Lexical Retrieval ◽  
Progressive Aphasia ◽  
Primary Progressive

P3-220: The Mild Cognitive Impairment of Primary Progressive Aphasia: A Case Series

2016 ◽  
Vol 12 ◽  
pp. P909-P910
Author(s):  
Jessica Powell ◽  
James Lendrum ◽  
Rosalind Huff ◽  
Christine Belden ◽  
Marwan N. Sabbagh
Keyword(s):  
Cognitive Impairment ◽  
Mild Cognitive Impairment ◽  
Case Series ◽  
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.

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