Pathogenic mutations in APP, PSEN1, PSEN2, MAPT and GRN have previously been linked to familial early onset forms of dementia. Mutation screening in these genes has been performed in either very small series or in single families with late onset AD (LOAD). Similarly, studies in single families have reported mutations in MAPT and GRN associated with clinical AD but no systematic screen of a larg...

BACKGROUND Gaucher disease (GD) is a genetic disease caused by mutations in the GBA1 gene which result in reduced enzymatic activity of β-glucocerebrosidase (GCase). This study identified the progranulin (PGRN) gene (GRN) as another gene associated with GD. METHODS Serum levels of PGRN were measured from 115 GD patients and 99 healthy controls, whole GRN gene from 40 GD patients was sequenced...

Background Neuropsychiatric symptoms (NPS) often occur during the prodromal stage of frontotemporal dementia (FTD), as evidenced by presence early psychiatric diagnosis in approximately 50% bvFTD patients prior to their diagnosis. We hypothesized that carriers mutations progranulin (GRN+), chromosome 9 open reading frame 72 (C9orf72+) and microtubule associated protein tau (MAPT+) have increase...

The distinction between sporadic and genetic behavioural-variant frontotemporal dementia (bvFTD) regarding some neuropsychological (NP) features remains challenging. Specifically, progranulin (GRN)-associated bvFTD frequently presents with early episodic memory impairment degree of parietal dysfunction which are supporters Alzheimer’s disease (AD) diagnosis. In this context, we aimed to charact...

Objective To determine relative frequencies and linguistic profiles of primary progressive aphasia (PPA) variants associated with GRN (progranulin) mutations to study their neuroanatomic correlates. Methods Patients PPA carrying (PPA- ) were selected among a national prospective research cohort 1,696 patients frontotemporal dementia, including 235 PPA. All amyloid-positive CSF biomarkers exclud...

Vertebrates are the only animals that produce bone, but the molecular genetic basis for this evolutionary novelty remains obscure. Here, we synthesize information from traditional evolutionary and modern molecular genetic studies in order to generate a working hypothesis on the evolution of the gene regulatory network (GRN) underlying bone formation. Since transcription factors are often core c...

Mutations in the aristaless-related homeobox (ARX) gene are associated with multiple neurologic disorders in humans. Studies in mice indicate Arx plays a role in neuronal progenitor proliferation and development of the cerebral cortex, thalamus, hippocampus, striatum, and olfactory bulbs. Specific defects associated with Arx loss of function include abnormal interneuron migration and subtype di...

Composite spectra of different rotational aspects of the S asteroid 433 Eros were assembled from previous studies, covering the wavelength range 0ø33-2.5 grn. These data allow us to measure significant attributes of Eros's spectrum• its mafic mineral absorptions, and the degree and nature of compositional heterogeneity of its surfaceo We also evaluated previous Sasteroid taxonomies using indepe...