Intra-familial clinical heterogeneity due to FTLD-U with TDP-43 proteinopathy caused by a novel deletion in progranulin gene (PGRN)

T Gabryelewicz, M Masellis… - Journal of …, 2010 - content.iospress.com
Frontotemporal dementia (FTD) is one of the commonest forms of early-onset dementia,
accounting for up to 20% of all dementia patients. Recently, it has been shown that …

TDP-43 pathology in familial frontotemporal dementia and motor neuron disease without Progranulin mutations

H Seelaar, H Jurgen Schelhaas, A Azmani, B Küsters… - Brain, 2007 - academic.oup.com
Frontotemporal dementia is accompanied by motor neuron disease (FTD+ MND) in∼ 10%
of cases. There is accumulating evidence for a clinicopathological overlap between FTD and …

The neuropathology and clinical phenotype of FTD with progranulin mutations

IRA Mackenzie - Acta neuropathologica, 2007 - Springer
Mutations in the progranulin gene (PGRN), on chromosome 17q21, have recently been
identified as a major cause of familial frontotemporal dementia (FTD). These cases have a …

Molecular characterization of novel progranulin (GRN) mutations in frontotemporal dementia

O Mukherjee, J Wang, M Gitcho, S Chakraverty… - Human …, 2008 - Wiley Online Library
Frontotemporal dementia (FTD) is a clinical term encompassing dementia characterized by
the presence of two major phenotypes: 1) behavioral and personality disorder, and 2) …

Clinical, neuropathological, and genetic characteristics of the novel IVS9+ 1delG GRN mutation in a patient with frontotemporal dementia

R Taipa, A Tuna, J Damásio, PS Pinto… - Journal of …, 2012 - content.iospress.com
Frontotemporal lobar degeneration (FTLD) refers to a clinically, pathologically, and
genetically heterogeneous group of dementias that arises from the degeneration of the …

A novel progranulin mutation associated with variable clinical presentation and tau, TDP43 and alpha-synuclein pathology

JB Leverenz, CE Yu, TJ Montine, E Steinbart… - Brain, 2007 - academic.oup.com
Mutations in the progranulin (GRN) gene have recently been reported as a cause of the
frontotemporal dementia (FTD) syndrome. We performed a clinical, neuropathological and …

Novel progranulin mutation detected in 2 patients with FTLD

L Skoglund, T Matsui, SH Freeman… - Alzheimer Disease & …, 2011 - journals.lww.com
Frontotemporal lobar degeneration (FTLD) with ubiquitin-positive, tau-negative inclusions,
and linkage to chromosome 17 was recently found to be caused by mutations in the …

Mutations in progranulin gene: clinical, pathological, and ribonucleic acid expression findings

AL de Munain, A Alzualde, A Gorostidi, D Otaegui… - Biological …, 2008 - Elsevier
BACKGROUND: There is an increasing interest in the clinico-pathological correlation of
mutations in progranulin (PGRN) and frontotemporal lobar degeneration (FTLD) complex …

Frequency of progranulin mutations in a German cohort of 79 frontotemporal dementia patients

JCM Schlachetzki, K Schmidtke… - Journal of …, 2009 - Springer
Mutations of the progranulin gene lead to progranulin haploinsufficiency and to
frontotemporal lobar degeneration (FTD) with TDP-43 positive inclusions. It is assumed that …

Neuropathological heterogeneity in frontotemporal lobar degeneration with TDP-43 proteinopathy: a quantitative study of 94 cases using principal components …

RA Armstrong, W Ellis, RL Hamilton… - Journal of neural …, 2010 - Springer
Studies suggest that frontotemporal lobar degeneration with transactive response DNA-
binding protein of 43 kDa (TDP-43) proteinopathy (FTLD-TDP) is heterogeneous with …