Current Concepts in the Classification and Diagnosis of Frontotemporal Lobar Degenerations: A Practical Approach

2014 ◽  
Vol 138 (1) ◽  
pp. 132-138 ◽  
Author(s):  
Zdenek Rohan ◽  
Radoslav Matej
Keyword(s):  
Frontotemporal Dementia ◽  
Glial Cells ◽  
Tau Protein ◽  
Frontotemporal Lobar Degeneration ◽  
Dna Binding Protein ◽  
Nonfluent Aphasia ◽  
Fused In Sarcoma ◽  
Clinical Syndromes ◽  
Pathologic Processes ◽  
Progressive Nonfluent Aphasia

Frontotemporal lobar degenerations are clinically, genetically, and molecularly heterogeneous diseases characterized by mainly frontal and temporal atrophy and affecting behavioral, language, cognitive, and motor functions. The term frontotemporal dementia incorporates 3 distinct clinical syndromes seen in frontotemporal degenerations: behavioral variant of frontotemporal dementia, progressive nonfluent aphasia, and semantic dementia. Progressive supranuclear palsy syndrome, corticobasal syndrome, and motor neuron disease syndrome are also associated with frontotemporal lobar degenerations. The neuropathologic hallmark of frontotemporal lobar degenerations is accumulation of abnormal proteins in the cytoplasm and nuclei of neurons and glial cells. Proteins involved in pathologic processes that represent the basis for frontotemporal lobar degeneration classification are tau protein, transactive response DNA-binding protein of 43 kDa, and “fused in sarcoma” protein. The aim of this review is to provide a summary of practical approaches for neuropathologic diagnostics of the rapidly evolving classifications of frontotemporal lobar degenerations.

Frontotemporal Lobar Degeneration: Characterizing Semantic Binding and Abstracted Meaning Abilities

2009 ◽  
Vol 19 (4) ◽  
pp. 117-125 ◽  
Author(s):  
Raksha Anand ◽  
John Hart ◽  
Patricia S. Moore ◽  
Sandra B. Chapman
Keyword(s):  
Frontotemporal Lobar Degeneration ◽  
Assessment Tools ◽  
Progressive Decline ◽  
Cognitively Normal ◽  
Nonfluent Aphasia ◽  
Traditional Assessment ◽  
Language Measures ◽  
Semantic Object ◽  
Semantic Problem ◽  
Progressive Nonfluent Aphasia

Abstract Purpose: Frontotemporal lobar degeneration (FTLD) encompasses a group of neurodegenerative disorders characterized by gradual and progressive decline in behavior and/or language. Identifying the subtypes of FTLD can be challenging with traditional assessment tools. Growing empirical evidence suggests that language measures might be useful in differentiating FTLD subtypes. Method: In this paper, we examined the performance of five individuals with FTLD (two with frontotemporal dementia, two with semantic dementia, and one with progressive nonfluent aphasia) and 10 cognitively normal older adults on measures of semantic binding (Semantic Object Retrieval Test and semantic problem solving) and abstracted meaning (generation of interpretive statement and proverb interpretation). Results and Conclusion: A differential profile of impairment was observed in the three FTLD subtypes on these four measures. Further examination of these measures in larger groups will establish their clinical utility in differentiating the FTLD subtypes.

Autosomal Dominant Frontotemporal Lobar Degeneration in a Filipino Family with Progranulin Mutation

2021 ◽  
pp. 1-8
Author(s):  
Jacqueline Dominguez ◽  
Arlene Ng ◽  
Jeryl Yu ◽  
Anne Cristine Guevarra ◽  
Maria Luisa Daroy ◽  
...  
Keyword(s):  
Frontotemporal Lobar Degeneration ◽  
White Matter Hyperintensities ◽  
Autosomal Dominant ◽  
The Philippines ◽  
Vascular Risk ◽  
Case Presentation ◽  
Nonfluent Aphasia ◽  
Protein Tau ◽  
Review Reports ◽  
Progressive Nonfluent Aphasia

<b><i>Background:</i></b> Compared to Western populations, familial frontotemporal lobar degeneration (FTLD) is rare among Asians. Progranulin (GRN) gene mutation, which is a major cause of FTLD, is likewise rare. We present a family with FTLD from the Philippines with an autosomal dominant pattern of inheritance and GRN mutation and briefly review reports of GRN mutations in Asia. <b><i>Case Presentation:</i></b> The proband is 66 years old with progressive nonfluent aphasia (PNFA)-corticobasal syndrome . We assessed 3 generations of her pedigree and found 11 affected relatives with heterogenous phenotypes, usually behavioral variant frontotemporal dementia (FTD) and PNFA. Neuroimaging showed atrophy and hypometabolism consistent with FTD syndromes. White matter hyperintensities were seen in affected members even in the absence of vascular risk factors. A GRN mutation R110X was found in 6 members, 3 with symptoms and 3 were asymptomatic. Plasma GRN was low (&#x3c;112 ng/mL) in all mutation carriers. No mutations were found in microtubule-associated protein tau, APP, PSEN1, and PSEN2 genes, and all were APOE3. <b><i>Conclusion:</i></b> This is the first Filipino family with autosomal dominant FTD documented with GRN mutation. Identifying families and cohorts would contribute to therapeutic developments in an area with FTD-GRN.

scholarly journals From genetics to pathology: tau and a–synuclein assemblies in neurodegenerative diseases

2001 ◽  
Vol 356 (1406) ◽  
pp. 213-227 ◽  
Author(s):  
Michel Goedert ◽  
Maria Grazia Spillantini ◽  
Louise C. Serpell ◽  
John Berriman ◽  
Michael J. Smith ◽  
...  
Keyword(s):  
Human Brain ◽  
Neurodegenerative Diseases ◽  
Frontotemporal Dementia ◽  
Glial Cells ◽  
Tau Protein ◽  
Nerve Cells ◽  
Degenerative Diseases ◽  
Protein Tau ◽  
Microtubule Associated Protein Tau ◽  
Filamentous Inclusions

The most common degenerative diseases of the human brain are characterized by the presence of abnormal filamentous inclusions in affected nerve cells and glial cells. These diseases can be grouped into two classes, based on the identity of the major proteinaceous components of the filamentous assemblies. The filaments are made of either the microtubule–associated protein tau or the protein α–synuclein. Importantly, the discovery of mutations in the tau gene in familial forms of frontotemporal dementia and of mutations in the α–synuclein gene in familial forms of Parkinson's disease has established that dysfunction of tau protein and α–synuclein can cause neurodegeneration.

Frontotemporal dementia

2013 ◽  
Author(s):  
Vincent Deramecourt ◽  
Florence Lebert ◽  
Florence Pasquier
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Frontotemporal Dementia ◽  
Anterior Part ◽  
Lewy Bodies ◽  
Pharmacological Interventions ◽  
Nonfluent Aphasia ◽  
Temporal Lobes ◽  
Progressive Nonfluent Aphasia ◽  
Core Features

Frontotemporal dementia (FTD) is the second most common form of dementia in persons younger than 65 years after Alzheimer’s disease. The FTD spectrum is characterized by clinical, molecular and genetic heterogeneity. Core features of FTD are behavioural and language manifestations and the clinical spectrum of FTD currently includes a behavioural variant, progressive nonfluent aphasia and semantic dementia. The most common behavioural features are disinhibition, apathy, loss of empathy, hyperorality and perseveration. Neuroimaging usually demonstrates focal atrophy and hypometabolism in the anterior part of the frontal and temporal lobes. A careful history and neuropsychological examination, and judicious use of neuroimaging, can help distinguish FTD from other common forms of dementia, especially Alzheimer’s disease, vascular dementia, and dementia with Lewy bodies. Although no specific pharmacological treatments for FTD exists, symptom management with serotonin reuptake inhibitors and non pharmacological interventions have been shown to be beneficial.

scholarly journals Frontotemporal dementia and neurocysticercosis: a case report

2012 ◽  
Vol 6 (1) ◽  
pp. 64-69
Author(s):  
Corina Satler ◽  
Elza Santos Maestro ◽  
Carlos Tomaz
Keyword(s):  
Case Report ◽  
Cognitive Functioning ◽  
Frontotemporal Dementia ◽  
Neuropsychiatric Symptoms ◽  
Verbal Communication ◽  
Behavioral Changes ◽  
Nonfluent Aphasia ◽  
Progressive Deterioration ◽  
History Of ◽  
Progressive Nonfluent Aphasia

ABSTRACT We report a case of a 67-year-old woman with frontotemporal dementia (FTD) and a history of neurocysticercosis. After her retirement she showed progressive behavioral changes and neuropsychiatric symptoms with relative preservation of cognitive functioning. During the next three years, the patient manifested progressive deterioration of verbal communication gradually evolving to mutism, a hallmark of cases of progressive nonfluent aphasia.

scholarly journals Expanding the Phenotype of Frontotemporal Lobar Degeneration With FUS-Positive Pathology (FTLD-FUS)

2020 ◽  
Vol 79 (7) ◽  
pp. 809-812 ◽  
Author(s):  
Karina Chornenka ◽  
Veronica Hirsch-Reinshagen ◽  
Mari Perez-Rosendahl ◽  
Howard Feldman ◽  
Freddi Segal-Gidan ◽  
...  
Keyword(s):  
Frontotemporal Dementia ◽  
Language Impairment ◽  
Early Onset ◽  
Frontotemporal Lobar Degeneration ◽  
Age Of Onset ◽  
Fused In Sarcoma ◽  
Behavioral Abnormalities ◽  
Early Memory ◽  
High Degree

Abstract Atypical frontotemporal lobar degeneration with ubiquitin-positive inclusions (aFTLD-U) is an uncommon cause of frontotemporal dementia characterized by fused in sarcoma-positive inclusions. It is classified as a subtype of frontotemporal lobar degeneration with FUS pathology. Cases with aFTLD-U pathology typically display an early onset of symptoms and severe psychobehavioral changes in the absence of significant aphasia, cognitive-intellectual dysfunction or motor features. This phenotype is regarded as being sufficiently unusual and consistent as to allow antemortem diagnosis with a high degree of accuracy. In this report, we describe 2 cases with aFTLD-U pathology that broaden the associated phenotype to include later age of onset, milder behavioral abnormalities and early memory and language impairment.

Cerebrospinal Fluid TAR DNA-Binding Protein 43 Combined with Tau Proteins as a Candidate Biomarker for Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Spectrum Disorders

2017 ◽  
Vol 44 (3-4) ◽  
pp. 144-152 ◽  
Author(s):  
Mara Bourbouli ◽  
Michael Rentzos ◽  
Anastasia Bougea ◽  
Vasiliki Zouvelou ◽  
Vasilios C. Constantinides ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Cerebrospinal Fluid ◽  
Dna Binding ◽  
Frontotemporal Dementia ◽  
Tau Protein ◽  
Binding Protein ◽  
Dna Binding Protein ◽  
Amyloid Peptide ◽  
Spectrum Disorders ◽  
Lateral Sclerosis

Background: Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are nowadays recognized as spectrum disorders with a molecular link, the TAR DNA-binding protein 43 (TDP-43), rendering it a surrogate biomarker for these disorders. Methods: We measured cerebrospinal fluid (CSF) levels of TDP-43, beta-amyloid peptide with 42 amino acids (Aβ42), total tau protein (τT), and tau protein phosphorylated at threonine 181 (τP-181) in 32 patients with ALS, 51 patients with FTD, and 17 healthy controls. Double-sandwich commercial enzyme-linked immunosorbent assays were used for measurements. Results: Both ALS and FTD patients presented with higher TDP-43 and τT levels compared to the control group. The combination of biomarkers in the form of the TDP-43 × τT / τP-181 formula achieved the best discrimination between ALS or FTD and controls, with sensitivities and specificities >0.8. Conclusion: Combined analysis of TDP-43, τT, and τP-181 in CSF may be useful for the antemortem diagnosis of ALS and FTD.

scholarly journals MNI-FTD templates, unbiased average templates of frontotemporal dementia variants

2021 ◽  
Vol 8 (1) ◽  
Author(s):  
Mahsa Dadar ◽  
Ana L. Manera ◽  
Vladimir S. Fonov ◽  
Simon Ducharme ◽  
D. Louis Collins
Keyword(s):  
Frontotemporal Dementia ◽  
Group Level ◽  
Healthy Young Adult ◽  
Nonfluent Aphasia ◽  
Registration Errors ◽  
Standard Template ◽  
Semantic Variant ◽  
Human Neuroimaging ◽  
Disease Specific ◽  
Progressive Nonfluent Aphasia

AbstractStandard templates are widely used in human neuroimaging processing pipelines to facilitate group-level analyses and comparisons across subjects/populations. MNI-ICBM152 template is the most commonly used standard template, representing an average of 152 healthy young adult brains. However, in patients with neurodegenerative diseases such as frontotemporal dementia (FTD), high atrophy levels lead to significant differences between individuals’ brain shapes and MNI-ICBM152 template. Such differences might inevitably lead to registration errors or subtle biases in downstream analyses and results. Disease-specific templates are therefore desirable to reflect the anatomical characteristics of the populations of interest and reduce potential registration errors. Here, we present MNI-FTD136, MNI-bvFTD70, MNI-svFTD36, and MNI-pnfaFTD30, four unbiased average templates of 136 FTD patients, 70 behavioural variant (bv), 36 semantic variant (sv), and 30 progressive nonfluent aphasia (pnfa) variant FTD patients and a corresponding age-matched template of 133 controls (MNI-CN133), along with probabilistic tissue maps for each template. Public availability of these templates will facilitate analyses of FTD cohorts and enable comparisons between different studies in an appropriate common standardized space.

Sign in / Sign up

Export Citation Format

Share Document