Genotype-phenotype correlation in the spectrum of frontotemporal dementia-parkinsonian syndromes and advanced diagnostic approaches

C Zecca, R Tortelli, P Carrera… - Critical Reviews in …, 2023 - Taylor & Francis
The term frontotemporal dementia (FTD) refers to a group of progressive neurodegenerative
disorders characterized mainly by atrophy of the frontal and anterior temporal lobes. Based …

Autosomal dominant frontotemporal lobar degeneration due to the C9ORF72 hexanucleotide repeat expansion: late-onset psychotic clinical presentation

D Galimberti, C Fenoglio, M Serpente, C Villa… - Biological …, 2013 - Elsevier
Background A hexanucleotide repeat expansion in the first intron of C9ORF72 has been
shown to be responsible for a high number of familial cases of amyotrophic lateral sclerosis …

Loss of exosomes in progranulin-associated frontotemporal dementia

L Benussi, M Ciani, E Tonoli, M Morbin, L Palamara… - Neurobiology of …, 2016 - Elsevier
Many cells of the nervous system have been shown to release exosomes, a subclass of
secreted vesicles of endosomal origin capable of transferring biomolecules among cells: this …

Losing protein in the brain: the case of progranulin

R Ghidoni, A Paterlini, V Albertini, G Binetti, L Benussi - Brain research, 2012 - Elsevier
It is well known that progranulin protein is involved in wound repair, inflammation, and tumor
formation. The wedding between progranulin and brain was celebrated in 2006 with the …

[HTML][HTML] Progranulin is a novel independent predictor of disease progression and overall survival in chronic lymphocytic leukemia

M Göbel, L Eisele, M Möllmann, A Hüttmann… - PloS one, 2013 - journals.plos.org
Progranulin (Pgrn) is a 88 kDa secreted protein with pleiotropic functions including
regulation of cell cycle progression, cell motility, wound repair and tumorigenesis. Using …

Genetic counseling and testing for Alzheimer's disease and frontotemporal lobar degeneration: an Italian consensus protocol

M Bocchetta, A Mega, L Bernardi… - Journal of …, 2016 - content.iospress.com
Background: Genetic testing of familial Alzheimer's disease (AD) and frontotemporal lobar
degeneration (FTLD) is attracting interest thanks to innovative primary prevention clinical …

Serum progranulin levels in patients with frontotemporal lobar degeneration and Alzheimer's disease: detection of GRN mutations in a Spanish cohort

A Antonell, S Gil, R Sánchez-Valle… - Journal of …, 2012 - content.iospress.com
Progranulin gene (GRN) mutations cause frontotemporal lobar degeneration (FTLD) with
TDP43-positive inclusions, although its clinical phenotype is heterogeneous and includes …

[HTML][HTML] Circulating progranulin as a biomarker for neurodegenerative diseases

R Ghidoni, A Paterlini, L Benussi - American journal of …, 2012 - ncbi.nlm.nih.gov
Progranulin is a growth factor involved in the regulation of multiple processes including
tumorigenesis, wound repair, development, and inflammation. The recent discovery that …

Genetics of Alzheimer's disease and frontotemporal dementia

B Nacmias, I Piaceri, S Bagnoli, A Tedde… - Current molecular …, 2014 - ingentaconnect.com
The genetics of neurodegenerative diseases has an important role to clarify the
pathogenetic mechanism, the diagnosis and finally the therapeutic and ethical implications …

Estimating the age of the most common Italian GRN mutation: walking back to Canossa times

L Benussi, R Rademakers… - Journal of …, 2013 - content.iospress.com
Mutations in the progranulin gene (GRN) were first implicated in frontotemporal lobar
degeneration in 2006. The GRN p. Leu271LeufsX10 mutation is one of the most common …