rs5848 polymorphism and serum progranulin level
نویسندگان
چکیده
منابع مشابه
Posterior cortical atrophy as a primary clinical phenotype of corticobasal syndrome with a progranulin gene rs5848 TT genotype
Posterior cortical atrophy (PCA) represents a special clinicoradiologic syndrome characterized by progressive visuospatial and visuoperceptual deficits. PCA and corticobasal syndrome (CBS) may share similar pathogenetic mechanisms. We report the clinical, neuropsychological, imaging, and genetic features of a patient with initial visual problems, who further developed other cognitive impairment...
متن کاملSerum progranulin level in a subject carrying ‘predicted’ pathogenic PGRN mutation p.R564C
Although most of the known pathogenic mutations in the progranulin gene (PGRN) are null mutations leading to a reduction in the serum PGRN protein levels, missense mutations also have been identifi ed in patients with frontotemporal lobar degeneration and in patients with Alzheimer disease. Among these, p.R564C mutation was identifi ed in a late-onset AD patient with a reduced serum PGRN level....
متن کاملAssociation between GRN rs5848 Polymorphism and Parkinson′s Disease in Taiwanese Population
A single nucleotide polymorphism GRN rs5848 (3'UTR+78 C>T) was reported to alter the risk for frontotemporal lobar degeneration. Herein, we investigated the effect of GRN rs5848 on the risk of Parkinson's disease (PD) by genotyping 573 Taiwanese patients with PD and 490 age-matched control subjects. Compared to subjects with CC genotype, those with TT genotype had a 1.58-fold increased risk of ...
متن کاملSerum and Urinary Progranulin in Diabetic Kidney Disease
Progranulin has been recognized as an adipokine related to obesity, insulin resistance and type 2 diabetes mellitus (T2DM). There are scarce data regarding progranulin and kidney disease, but there are some data linking diabetic kidney disease (DKD) and increased progranulin levels. We aimed to better describe the relationship between serum and urinary progranulin levels and DKD in T2DM. This i...
متن کاملSerum Levels of the Adipokine Progranulin Depend on Renal Function
OBJECTIVE Progranulin has recently been introduced as a novel adipokine inducing insulin resistance and obesity. In the current study, we investigated renal elimination, as well as association of the adipokine with markers of the metabolic syndrome. RESEARCH DESIGN AND METHODS Progranulin serum levels were quantified by enzyme-linked immunosorbent assay and correlated to anthropometric and bi...
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ژورنال
عنوان ژورنال: Journal of the Neurological Sciences
سال: 2011
ISSN: 0022-510X
DOI: 10.1016/j.jns.2010.10.009