Distinguishing post‐translational modifications in dominantly inherited frontotemporal dementias: FTLD‐TDP Type A (GRN) vs Type B (C9orf72)

L Cracco, EH Doud, GI Hallinan… - Neuropathology and …, 2022 - Wiley Online Library
Aims Frontotemporal dementias are neuropathologically characterised by frontotemporal
lobar degeneration (FTLD). Intraneuronal inclusions of transactive response DNA‐binding …

Genetic variability in progranulin contributes to risk for clinically diagnosed Alzheimer disease

N Brouwers, K Sleegers, S Engelborghs… - Neurology, 2008 - AAN Enterprises
Objective: Loss-of-function mutations in the progranulin gene (PGRN) were identified in
frontotemporal lobar degeneration (FTLD) with ubiquitin-immunoreactive neuronal …

Hereditary dysphasic disinhibition dementia A frontotemporal dementia linked to 17 q21‐‐22

CL Lendon, T Lynch, J Norton, DW McKeel Jr… - Neurology, 1998 - AAN Enterprises
Objective The clinical and pathologic features of hereditary dysphasic disinhibition dementia
(HDDD) are described to determine whether it is a variant of known dementias. Background …

Progranulin and frontotemporal lobar degeneration

SM Pickering-Brown - Acta neuropathologica, 2007 - Springer
Frontotemporal lobar degeneration is the term used to describe the non-Alzheimer clinical
syndromes of frontotemporal dementia, semantic dementia and progressive non-fluent …

GRN Thr272fs clinical heterogeneity: a case with atypical late onset presenting with a dementia with Lewy bodies phenotype

B Arosio, C Abbate, D Galimberti… - Journal of …, 2013 - content.iospress.com
We describe a case of late onset frontotemporal dementia carrying the g. 1977 1980
delCACT (Thr272fs) mutation in progranulin (GRN) gene, characterized by a positive family …

Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia

J van der Zee, I Le Ber, S Maurer‐Stroh… - Human …, 2007 - Wiley Online Library
Null mutations in the progranulin gene (GRN, PGRN) were recently identified as the causal
mechanism underlying frontotemporal dementia (FTD) with ubiquitin‐positive brain …

Mutations in progranulin (GRN) within the spectrum of clinical and pathological phenotypes of frontotemporal dementia

JC Van Swieten, P Heutink - The Lancet Neurology, 2008 - thelancet.com
Background Frontotemporal dementia (FTD) is predominantly a presenile disorder that is
characterised by behavioural changes and cognitive impairment, particularly in language …

A quantitative study of the neuropathology of 32 sporadic and familial cases of frontotemporal lobar degeneration with TDP‐43 proteinopathy (FTLD‐TDP)

RA Armstrong, D Carter… - … and applied neurobiology, 2012 - Wiley Online Library
RA Armstrong, D. Carter and NJ Cairns (2012) Neuropathology and Applied
Neurobiology38, 25–38 A quantitative study of the neuropathology of 32 sporadic and …

[HTML][HTML] Progranulin Gene Mutation in Chinese Patients with Frontotemporal Dementia: A Case Report and Literature Review

M Chu, H Nan, D Jiang, L Liu, A Huang… - Journal of …, 2023 - content.iospress.com
Background: Progranulin (GRN) mutations in frontotemporal dementia (FTD) have been less
frequently reported in China than in Western countries. Objective: This study reports a novel …

Progranulin-mediated deficiency of cathepsin D results in FTD and NCL-like phenotypes in neurons derived from FTD patients

C Valdez, YC Wong, M Schwake, G Bu… - Human molecular …, 2017 - academic.oup.com
Frontotemporal dementia (FTD) encompasses a group of neurodegenerative disorders
characterized by cognitive and behavioral impairments. Heterozygous mutations in …