Underlying pathology identified after 20 years of disease course in two cases of slowly progressive frontotemporal dementia syndromes

Fatma Ozlem Hokelekli; Jennifer L. Whitwell; Mary M. Machulda; David T. Jones; Ryan J. Uitti; Nha Trang Thu Pham; Caterina Giannini; Matthew Baker; Val J. Lowe; Dennis W. Dickson; Keith A. Josephs

doi:10.1080/13554794.2021.1918723

Underlying pathology identified after 20 years of disease course in two cases of slowly progressive frontotemporal dementia syndromes

Fatma Ozlem Hokelekli, Jennifer L. Whitwell, Mary M. Machulda, David T. Jones, Ryan J. Uitti, Nha Trang Thu Pham, Caterina Giannini, Matthew Baker, Val J. Lowe, Dennis W. Dickson, Keith A. Josephs

Research output: Contribution to journal › Article › peer-review

Abstract

We report two cases from the frontotemporal lobar degeneration (FTLD) spectrum with remarkably slow progression. The first case demonstrated insidious-onset behavioral symptoms and personality changes resembling behavioral variant of frontotemporal dementia, followed a benign course over 26 years, his brain autopsy revealed the diffuse form of argyrophilic grain disease. The second case presented with slowly progressive cognitive and motor deficits, reminiscent of the corticobasal syndrome, deteriorated slowly over 22 years, his brain autopsy revealed FTLD-TDP with C9ORF72 pathology. These two cases confirm the notion of slowly progressive frontotemporal lobar degeneration caused by an underlying FTLD pathology, rather than a phenocopy. .

Original language	English (US)
Pages (from-to)	212-222
Number of pages	11
Journal	Neurocase
Volume	27
Issue number	2
DOIs	https://doi.org/10.1080/13554794.2021.1918723
State	Published - 2021

Keywords

Frontotemporal lobar degeneration
argyrophilic grain disease
c9orf72 mutation
phenocopy
slow progression
tdp-43

ASJC Scopus subject areas

Arts and Humanities (miscellaneous)
Clinical Neurology

Access to Document

10.1080/13554794.2021.1918723

Cite this

Hokelekli, F. O., Whitwell, J. L., Machulda, M. M., Jones, D. T., Uitti, R. J., Pham, N. T. T., Giannini, C., Baker, M., Lowe, V. J., Dickson, D. W., & Josephs, K. A. (2021). Underlying pathology identified after 20 years of disease course in two cases of slowly progressive frontotemporal dementia syndromes. Neurocase, 27(2), 212-222. https://doi.org/10.1080/13554794.2021.1918723

@article{8f365a8eb31c40959073817827030c39,

title = "Underlying pathology identified after 20 years of disease course in two cases of slowly progressive frontotemporal dementia syndromes",

abstract = "We report two cases from the frontotemporal lobar degeneration (FTLD) spectrum with remarkably slow progression. The first case demonstrated insidious-onset behavioral symptoms and personality changes resembling behavioral variant of frontotemporal dementia, followed a benign course over 26 years, his brain autopsy revealed the diffuse form of argyrophilic grain disease. The second case presented with slowly progressive cognitive and motor deficits, reminiscent of the corticobasal syndrome, deteriorated slowly over 22 years, his brain autopsy revealed FTLD-TDP with C9ORF72 pathology. These two cases confirm the notion of slowly progressive frontotemporal lobar degeneration caused by an underlying FTLD pathology, rather than a phenocopy. .",

keywords = "Frontotemporal lobar degeneration, argyrophilic grain disease, c9orf72 mutation, phenocopy, slow progression, tdp-43",

author = "Hokelekli, {Fatma Ozlem} and Whitwell, {Jennifer L.} and Machulda, {Mary M.} and Jones, {David T.} and Uitti, {Ryan J.} and Pham, {Nha Trang Thu} and Caterina Giannini and Matthew Baker and Lowe, {Val J.} and Dickson, {Dennis W.} and Josephs, {Keith A.}",

note = "Publisher Copyright: {\textcopyright} 2021 Informa UK Limited, trading as Taylor & Francis Group.",

year = "2021",

doi = "10.1080/13554794.2021.1918723",

language = "English (US)",

volume = "27",

pages = "212--222",

journal = "Neurocase",

issn = "1355-4794",

publisher = "Psychology Press Ltd",

number = "2",

}

TY - JOUR

T1 - Underlying pathology identified after 20 years of disease course in two cases of slowly progressive frontotemporal dementia syndromes

AU - Hokelekli, Fatma Ozlem

AU - Whitwell, Jennifer L.

AU - Machulda, Mary M.

AU - Jones, David T.

AU - Uitti, Ryan J.

AU - Pham, Nha Trang Thu

AU - Giannini, Caterina

AU - Baker, Matthew

AU - Lowe, Val J.

AU - Dickson, Dennis W.

AU - Josephs, Keith A.

PY - 2021

Y1 - 2021

N2 - We report two cases from the frontotemporal lobar degeneration (FTLD) spectrum with remarkably slow progression. The first case demonstrated insidious-onset behavioral symptoms and personality changes resembling behavioral variant of frontotemporal dementia, followed a benign course over 26 years, his brain autopsy revealed the diffuse form of argyrophilic grain disease. The second case presented with slowly progressive cognitive and motor deficits, reminiscent of the corticobasal syndrome, deteriorated slowly over 22 years, his brain autopsy revealed FTLD-TDP with C9ORF72 pathology. These two cases confirm the notion of slowly progressive frontotemporal lobar degeneration caused by an underlying FTLD pathology, rather than a phenocopy. .

AB - We report two cases from the frontotemporal lobar degeneration (FTLD) spectrum with remarkably slow progression. The first case demonstrated insidious-onset behavioral symptoms and personality changes resembling behavioral variant of frontotemporal dementia, followed a benign course over 26 years, his brain autopsy revealed the diffuse form of argyrophilic grain disease. The second case presented with slowly progressive cognitive and motor deficits, reminiscent of the corticobasal syndrome, deteriorated slowly over 22 years, his brain autopsy revealed FTLD-TDP with C9ORF72 pathology. These two cases confirm the notion of slowly progressive frontotemporal lobar degeneration caused by an underlying FTLD pathology, rather than a phenocopy. .

KW - Frontotemporal lobar degeneration

KW - argyrophilic grain disease

KW - c9orf72 mutation

KW - phenocopy

KW - slow progression

KW - tdp-43

UR - http://www.scopus.com/inward/record.url?scp=85105211590&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85105211590&partnerID=8YFLogxK

U2 - 10.1080/13554794.2021.1918723

DO - 10.1080/13554794.2021.1918723

M3 - Article

C2 - 33904372

AN - SCOPUS:85105211590

SN - 1355-4794

VL - 27

SP - 212

EP - 222

JO - Neurocase

JF - Neurocase

IS - 2

ER -

Underlying pathology identified after 20 years of disease course in two cases of slowly progressive frontotemporal dementia syndromes

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this