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| http://dx.doi.org/10.1002/jor.23091 | DOI Listing |
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Basic Science and Pathogenesis.
Alzheimers Dement
December 2024
AviadoBio, London, London, United Kingdom.
Background: Frontotemporal dementia (FTD) presents with a change in personality, behaviour and language and is the second most common cause of young-onset dementia after Alzheimer's disease. Loss of function mutations in GRN, encoding progranulin (PGRN), causes FTD in the heterozygous state, accounting for 5-10% of all FTD cases. PGRN is essential for normal lysosomal function and neuronal survival.
View Article and Find Full Text PDFClinical Manifestations.
Alzheimers Dement
December 2024
University of San Francisco, San Francisco, CA, USA.
Background: Sex differences in neurodegenerative diseases can impact accurate diagnosis and management. Emerging data suggest there may be sex differences in frontotemporal dementia (FTD) prevalence and clinical manifestation. However, prior studies lacked longitudinal assessment and were limited in capturing sex differences in earliest stages of disease (e.
View Article and Find Full Text PDFArticle Synopsis
- - The article outlines frontotemporal dementia (FTD) by focusing on three core syndromes: behavioral variant FTD and two types of progressive aphasia (nonfluent and semantic variants), which are linked to specific protein abnormalities in the brain.
- - It highlights that FTD is more heritable than Alzheimer's and indicates genetic variations, such as in C9orf72 and MAPT, are found in over 10% of cases, which help understand its pathology through clinical presentations and imaging.
- - Although there are no FDA-approved treatments for FTD yet, ongoing clinical trials aim to find disease-modifying therapies, while current management strategies address behavioral and language issues through non-drug methods or off-label medication use. *
Plasma levels of progranulin, a tumorigenic protein, are persistently elevated during the first month after minimally invasive colorectal cancer resection.
J Gastrointest Oncol
October 2024
Northwell, New Hyde Park, NY 10042-1069, USA.
Background: Progranulin (PGRN), also identified as Precursor cell-derived growth factor (PCDGF), is a glycoprotein that is expressed and released ubiquitously. PGRN is plays a crucial role in regulating cell proliferation, differentiation, and pathological pathways. PGRN overexpression has been noted in many cancers and plays an important role in wound healing.
View Article and Find Full Text PDFFrequency of C9orf72, GRN, and MAPT pathogenic variants in patients recruited at the Belgrade Memory Center.
Neurogenetics
July 2024
Faculty of Medicine, University of Belgrade, Dr Subotića 8, Belgrade, 11000, Serbia.
Most of the heritability in frontotemporal dementia (FTD) is accounted for by autosomal dominant hexanucleotide expansion in the chromosome 9 open reading frame 72 (C9orf72), pathogenic/likely pathogenic variants in progranulin (GRN), and microtubule-associated protein tau (MAPT) genes. Until now, there has been no systematic analysis of these genes in the Serbian population. Herein, we assessed the frequency of the C9orf72 expansion, pathogenic/likely pathogenic variants in GRN and MAPT in a well-characterized group of 472 subjects (FTD, Alzheimer's disease - AD, mild cognitive impairment - MCI, and unspecified dementia - UnD), recruited in the Memory Center, Neurology Clinic, University Clinical Center of Serbia.
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