Phenocopy syndrome of behavioral variant frontotemporal dementia: a systematic review | Alzheimer's Research & Therapy | Full Text

Phenocopy syndrome of behavioral variant frontotemporal dementia: a systematic review | Alzheimer's Research & Therapy | Full Text



Alzheimer's Research & Therapy

Phenocopy syndrome of behavioral variant frontotemporal dementia: a systematic review

• Elizabeth Sakamoto Valente,
• Paulo Caramelli,
• Leandro Boson Gambogi,
• Luciano Inácio Mariano,
• Henrique Cerqueira Guimarães,
• Antônio Lúcio Teixeira and
• Leonardo Cruz de SouzaEmail authorView ORCID ID profile

Alzheimer's Research & Therapy201911:30

https://doi.org/10.1186/s13195-019-0483-2

©  The Author(s). 2019

• Published: 1 April 2019

Abstract

Background

The phenocopy syndrome of behavioral variant of frontotemporal dementia (phFTD) refers to patients presenting with neuropsychiatric symptoms mimicking the behavioral variant frontotemporal dementia (bvFTD), but lacking frontotemporal atrophy/hypometabolism on neuroimaging and not evolving to dementia during the follow-up. It is important to recognize phFTD for clinical and research purposes.

Objective

The aim of this study was to perform a systematic review of the available literature on phFTD taking into account its clinical, cognitive, imaging, genetic, and pathological features.

Methods and results

We searched for the following terms in two electronic databases (PubMed and Scopus): “frontotemporal dementia and slowly progressive,” “frontotemporal dementia and phenocopy,” “frontotemporal dementia and non-progressive,” “frontotemporal dementia and benign progression,” and “frontotemporal dementia and benign.” We did not include review articles. Papers had to be written in English, French, Portuguese, or Spanish. Overall, 235 studies were retrieved in the initial search. A total of 31 studies composed the final selection, comprising 292 patients. Patients with phFTD are predominantly male and have no major cognitive deficits, with globally preserved executive functions and episodic memory. Some cases (n = 7) of slowly progressive FTD have been associated with C9orf72 genetic expansion. There are only four reports of phFTD neuropathological data, with two patients with no neurodegenerative findings and two with frontotemporal lobar degeneration with ubiquitin-positive inclusions.

Conclusion

The neurobiological underpinnings of phFTD remain unknown. It is controversial whether phFTD belongs to the FTD spectrum. Studies with biomarkers and pathological data are needed to solve the phFTD conundrum.

Keywords

• Frontotemporal dementia
• Phenocopy
• C9orf72