Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A novel progranulin mutation causing frontotemporal lobar degeneration with heterogeneous phenotypic expression.

Journal of Alzheimer's disease : JAD - 1 Jan 2011

Rossi Giacomina, Piccoli Elena, Benussi Luisa, Caso Francesca, Redaelli Veronica, Magnani Giuseppe, Binetti Giuliano, Ghidoni Roberta, Perani Daniela, Giaccone Giorgio, Tagliavini Fabrizio

Abstract excerpt

Frontotemporal lobar degeneration (FTLD) is a neurodegenerative disorder characterized by behavioural disturbances and cognitive decline. Here we describe an Italian family with FTLD showing remarkable phenotypic heterogeneity. Based on low plasma levels of progranulin, we analyzed the progranulin gene (GRN) in two patients with early onset and found the novel frame-shift mutation T278SfsX7. mRNA analysis...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Enzyme-Linked Immunosorbent Assay
Share to Family Health

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Frontotemporal Lobar Degeneration

Share to Intercellular Signaling Peptides and Proteins

Share to Progranulins

Share to tau Proteins

Share to Tomography, Emission-Computed, Single-Photon

Share to Tomography, X-Ray Computed

Source

Identifiers

PMID: 20930271
DOI: 10.3233/JAD-2010-101461

Genes

GRN
MAPT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel progranulin mutation causing frontotemporal lobar degeneration with heterogeneous phenotypic expression.PMID 20930271Read ↗

A mutation in the 5'-UTR of GRN gene associated with frontotemporal lobar degeneration: phenotypic variability and possible pathogenetic mechanisms.Semantic proximity Read ↗

Variability of the clinical phenotype in an Italian family with dementia associated with an intronic deletion in the GRN gene.Semantic proximity Read ↗

Mutations in progranulin gene: clinical, pathological, and ribonucleic acid expression findings.Semantic proximity Read ↗

Low plasma progranulin levels predict progranulin mutations in frontotemporal lobar degeneration.Semantic proximity Read ↗

A cluster of progranulin C157KfsX97 mutations in Southern Italy: clinical characterization and genetic correlations.Semantic proximity Read ↗

Progranulin Leu271LeufsX10 is one of the most common FTLD and CBS associated mutations worldwide.Semantic proximity Read ↗

One novel GRN null mutation, two different aphasia phenotypes.Semantic proximity Read ↗

Genetic forms of frontotemporal lobar degeneration: Current diagnostic approach and new directions in therapeutic strategies.Semantic proximity Read ↗

A progranulin mutation associated with cortico-basal syndrome in an Italian family expressing different phenotypes of fronto-temporal lobar degeneration.Semantic proximity Read ↗

Frontotemporal dementia in a large Swedish family is caused by a progranulin null mutation.Semantic proximity Read ↗

Progranulin genetic screening in frontotemporal lobar degeneration patients from central Italy.Semantic proximity Read ↗

Characterization of novel progranulin gene variants in Italian patients with neurodegenerative diseases.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.