Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration

AS Chen-Plotkin, M Martinez-Lage… - Archives of …, 2011 - jamanetwork.com
… Excluding this mutation from our analyses of clinical features of GRN+ FTLD-TDP did not
affect our finding that patients with GRN+ FTLD-TDP are younger at onset of the disease vs …

The neuropathology and clinical phenotype of FTD with progranulin mutations

IRA Mackenzie - Acta neuropathologica, 2007 - Springer
… Marked variation in the disease course and clinical features are common, not only between
families with different mutations, but also within individual families. This degree of clinical

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
… whether the loss of progranulin leads to the accumulation of TARDBP. In this Rapid Review,
we focus on the clinical and pathological phenotypes associated with mutations in GRN, …

Clinical, genetic, and pathologic characteristics of patients with frontotemporal dementia and progranulin mutations

VM Van Deerlin, EMC Wood, P Moore… - Archives of …, 2007 - jamanetwork.com
… in GRN on chromosome 17 have been associated clinically with an FTD syndrome and
FTLD-U pathologic characteristics. There are some clinical features that seem to distinguish …

Progranulin gene mutation with an unusual clinical and neuropathologic presentation

C Wider, RJ Uitti, ZK Wszolek, JY Fang… - … : official journal of the …, 2008 - Wiley Online Library
… , presumably secondary to PGRN mutations, and prior to overt … of clinical and pathological
phenotypes in PGRN mutation … PGRN mutation, even when associated with clinical features

Progranulin mutations as risk factors for Alzheimer disease

DC Perry, M Lehmann, JS Yokoyama… - JAMA …, 2013 - jamanetwork.com
clinical syndromes, all attributed to frontotemporal lobar degeneration. We describe 2 patients
with progranulin gene mutations … of 2 unrelated patients with progranulin mutations at the …

Prominent phenotypic variability associated with mutations in Progranulin

BJ Kelley, W Haidar, BF Boeve, M Baker… - Neurobiology of …, 2009 - Elsevier
… Therefore, we suggest that TDP-43 immunohistochemistry be considered in cases with
clinical features of FTD, but pathological diagnosis other than FTLD. In two cases with striking …

Missense mutations in progranulin gene associated with frontotemporal lobar degeneration: study of pathogenetic features

CM Karch, L Ezerskiy, V Redaelli, AR Giovagnoli… - Neurobiology of …, 2016 - Elsevier
… in detail the clinical data of the patients carrying the 3 GRN missense mutations and the …
In conclusion, the clinical and functional findings strongly suggest that GRN C105Y is likely …

… of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: comparison with patients with MAPT and no known mutations

SM Pickering-Brown, S Rollinson, D Du Plessis… - Brain, 2008 - academic.oup.com
mutations in tau (MAPT) and progranulin (PGRN) genes. All FTLD patients had undergone
longitudinal neuropsychological and clinical … Six different PGRN mutations were found in 13 (6…

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 … We performed a clinical,
neuropathological and molecular … mutation (c.709-2, A>G) in two families with notable clinical