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

The First Historically Reported Italian Family with FTD/ALS Teaches a Lesson on C9orf72 RE: Clinical Heterogeneity and Oligogenic Inheritance.

Journal of Alzheimer's disease : JAD - 1 Jan 2018

Giannoccaro Maria Pia, Bartoletti-Stella Anna, Piras Silvia, Casalena Alfonsina, Oppi Federico, Ambrosetto Giovanni, Montagna Pasquale, Liguori Rocco, Parchi Piero, Capellari Sabina

Abstract excerpt

BACKGROUND: In 1969, Dazzi and Finizio reported the second observation of frontotemporal dementia (FTD) - amyotrophic lateral sclerosis (ALS) association in a large Italian kindred affected by an autosomal dominant form of ALS with high penetrance, frequent bulbar onset, and frequent cognitive decline. OBJECTIVE: To expand the original characterization of this family and report the link with the C9orf72 repeat...

Read the complete abstract on PubMed

Topics

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

Share to Adaptor Proteins, Signal Transducing
Share to Amyotrophic Lateral Sclerosis

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

Share to C9orf72 Protein

Share to Cerebral Cortex

Share to DNA Repeat Expansion

Share to Frontotemporal Dementia

Share to Membrane Glycoproteins

Share to Multifactorial Inheritance

Source

Identifiers

PMID: 29480190
DOI: 10.3233/JAD-170913

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

The First Historically Reported Italian Family with FTD/ALS Teaches a Lesson on C9orf72 RE: Clinical Heterogeneity and Oligogenic Inheritance.PMID 29480190Read ↗

C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect.Semantic proximity Read ↗

The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype.Semantic proximity Read ↗

A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats.Semantic proximity Read ↗

Atypical Neuropsychiatric Presentation of FTD-ALS Caused by a Pathogenic Repeat Expansion in C9orf72: A Case Report.Semantic proximity Read ↗

C9orf72 repeat expansions are restricted to the ALS-FTD spectrumSemantic proximity Read ↗

Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72.Semantic proximity Read ↗

The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder.Semantic proximity Read ↗

Genetic and epigenetic disease modifiers in an Italian C9orf72 family expressing ALS, FTD or PD clinical phenotypes.Semantic proximity Read ↗

Assessment of risk of ALS conferred by the GGGGCC hexanucleotide repeat expansion in C9orf72 among first-degree relatives of patients with ALS carrying the repeat expansionSemantic proximity Read ↗

C9orf72-mediated ALS and FTD: multiple pathways to diseaseSemantic proximity Read ↗

C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts.Semantic proximity Read ↗

Targeted sequencing panels in Italian ALS patients support different etiologies in the ALS/FTD continuum.Semantic proximity Read ↗

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