The neuropathology and clinical phenotype of FTD with progranulin mutations

IRA Mackenzie - Acta neuropathologica, 2007 - Springer
… -U [31] and we later proposed that they are a pathological marker for familial FTD caused
by a specific gene defect [20]. Although lentiform NII are an absolutely sensitive marker for …

Progranulin deficiency promotes persistent neuroinflammation and causes regional pathology in the hippocampus following traumatic brain injury

X Zheng, T Mi, R Wang, Z Zhang, W Li, J Zhao, P Yang… - Glia, 2022 - Wiley Online Library
… This study aimed to determine whether progranulin (PGRN), a major modulator of microglial
activity, plays a role in the progressive damage following TBI. PGRN-deficient and wild-type …

Losing protein in the brain: the case of progranulin

R Ghidoni, A Paterlini, V Albertini, G Binetti, L Benussi - Brain research, 2012 - Elsevier
… Since the discovery of progranulin mutations there has been an interest in developing
mouse models of progranulin deficiency with the expectation that aspects of the pathological

Pathological correlates of white matter hyperintensities in a case of progranulin mutation associated frontotemporal dementia

IOC Woollacott, M Bocchetta, CH Sudre, BH Ridha… - Neurocase, 2018 - Taylor & Francis
… ) due to progranulin (GRN) mutations, but their pathological … , then selected five different
brain regions directly matched to … We used immunohistochemistry to assess vascular pathology

Corticobasal Syndrome Associated With the A9D Progranulin Mutation

S Spina, JR Murrell, ED Huey… - … of Neuropathology & …, 2007 - academic.oup.com
pathologic substrate of corticobasal syndrome has been further expanded to include cases
with pathologic … 43)-positive inclusions associated with progranulin (PGRN) mutations. We …

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
… We do not find a deficit for working memory in this series. The detailed description of the
2 cases with a GRN mutation are said to have normal memory. We find a relative deficit for …

Possible involvement of lysosomal dysfunction in pathological changes of the brain in aged progranulin-deficient mice

Y Tanaka, JK Chambers, T Matsuwaki… - Acta neuropathologica …, 2014 - Springer
… We characterized the brain pathology related to NCL in aged PGRN-deficient mice in the
present study. PGRN deficiency resulted in neuronal loss, increased gliosis, lipofuscin …

Disease and region specificity of granulin immunopositivities in Alzheimer disease and frontotemporal lobar degeneration

Q Mao, D Wang, Y Li, M Kohler, J Wilson… - … of Neuropathology & …, 2017 - academic.oup.com
… of progranulin message upstream of the Grn D region, … deficient immunoprotection in this
region. These changes might be related to the development of HS and/or TDP-43 pathology in …

Common pathobiochemical hallmarks of progranulin-associated frontotemporal lobar degeneration and neuronal ceroid lipofuscinosis

JK Götzl, K Mori, M Damme, K Fellerer, S Tahirovic… - Acta …, 2014 - Springer
… Heterozygous loss-of-function mutations in the progranulin (… Recently, it has been shown
that a complete GRN deficiency … a risk factor for FTLD-TDP pathology. In line with a potential …

Individuals with progranulin haploinsufficiency exhibit features of neuronal ceroid lipofuscinosis

ME Ward, R Chen, HY Huang, C Ludwig… - Science translational …, 2017 - science.org
… lead to progranulinprogranulin-deficient FTD and NCL remains unexplored. Now, Ward
et al. show that patients with heterozygous GRN mutations exhibit clinical and pathological