Six generations of CHMP2B ‐mediated Frontotemporal Dementia: Clinical features, predictive testing, progression, and survival

2022 ◽  
Author(s):  
Peter Roos ◽  
Peter Johannsen ◽  
Suzanne G. Lindquist ◽  
Jeremy M. Brown ◽  
Gunhild Waldemar ◽  
...  
Keyword(s):  
Frontotemporal Dementia ◽  
Clinical Features ◽  
Predictive Testing

Clinical features of the behavioural variant of frontotemporal dementia that are useful for predicting underlying pathological subtypes of frontotemporal lobar degeneration

2018 ◽  
Vol 18 (4) ◽  
pp. 307-312 ◽  
Author(s):  
Zen Kobayashi ◽  
Tetsuaki Arai ◽  
Ito Kawakami ◽  
Osamu Yokota ◽  
Masato Hosokawa ◽  
...  
Keyword(s):  
Frontotemporal Dementia ◽  
Clinical Features ◽  
Frontotemporal Lobar Degeneration ◽  
Pathological Subtypes

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 A case of inclusion body myopathy with Paget^|^apos;s disease of bone and frontotemporal dementia (IBMPFD) showing clinical features of motor neuron disease

2013 ◽  
Vol 53 (6) ◽  
pp. 458-464 ◽  
Author(s):  
Ryousuke Igari ◽  
Manabu Wada ◽  
Hiroyasu Sato ◽  
Yukiko K. Hayashi ◽  
Ichizo Nishino ◽  
...  
Keyword(s):  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Frontotemporal Dementia ◽  
Inclusion Body ◽  
Clinical Features ◽  
Inclusion Body Myopathy

Clinical features of frontotemporal dementia due to the intronictau10+16mutation

Neurology ◽  
2002 ◽  
Vol 58 (8) ◽  
pp. 1161-1168 ◽  
Author(s):  
J. C. Janssen ◽  
E. K. Warrington ◽  
H. R. Morris ◽  
P. Lantos ◽  
J. Brown ◽  
...  
Keyword(s):  
Frontotemporal Dementia ◽  
Clinical Features

scholarly journals Prion disease resembling frontotemporal dementia and parkinsonism linked to chromosome 17

2001 ◽  
Vol 59 (2A) ◽  
pp. 161-164 ◽  
Author(s):  
Ricardo Nitrini ◽  
Luís Sidônio Teixeira da Silva ◽  
Sérgio Rosemberg ◽  
Paulo Caramelli ◽  
Paulo Eduardo Mestrinelli Carrilho ◽  
...  
Keyword(s):  
Frontotemporal Dementia ◽  
Clinical Features ◽  
Prion Disease ◽  
Prion Diseases ◽  
Age At Onset ◽  
Abnormal Behavior ◽  
Chromosome 17 ◽  
Progressive Dementia ◽  
Behavioral Disturbances ◽  
Presenting Symptoms

OBJECTIVE: To compare the clinical features of a familial prion disease with those of frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). BACKGROUND: Prion diseases are not usually considered in the differential diagnosis of FTDP-17, since familial Creutzfeldt-Jakob disease (CJD), the most common inherited prion disease, often manifests as a rapidly progressive dementia. Conversely, FTDP-17 usually has an insidious onset in the fifth decade, with abnormal behavior and parkinsonian features. METHOD: We present the clinical features of 12 patients from a family with CJD associated with a point mutation at codon 183 of the prion protein gene. RESULTS: The mean age at onset was 44.0 ± 3.7; the duration of the symptoms until death ranged from two to nine years. Behavioral disturbances were the predominant presenting symptoms. Nine patients were first seen by psychiatrists. Eight patients manifested parkinsonian signs. CONCLUSION: These clinical features bear a considerable resemblance to those described in FTDP-17.

scholarly journals Clinical Features of Pathologic Subtypes of Behavioral-Variant Frontotemporal Dementia

2007 ◽  
Vol 64 (11) ◽  
pp. 1611 ◽  
Author(s):  
William T. Hu ◽  
Jayawant N. Mandrekar ◽  
Joseph E. Parisi ◽  
David S. Knopman ◽  
Bradley F. Boeve ◽  
...  
Keyword(s):  
Frontotemporal Dementia ◽  
Clinical Features ◽  
Behavioral Variant Frontotemporal Dementia

Motor neuron disease beginning with frontotemporal dementia: clinical features and progression

2021 ◽  
pp. 1-9
Author(s):  
Marta Gromicho ◽  
Magdalena Kuzma-Kozakiewicz ◽  
Katarzyna Szacka ◽  
Krzysztof Nieporecki ◽  
Peter M. Andersen ◽  
...  
Keyword(s):  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Frontotemporal Dementia ◽  
Clinical Features

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.

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