Analysis of known amyotrophic lateral sclerosis and frontotemporal dementia genes reveals a substantial genetic burden in patients manifesting both diseases not carrying the C9orf72 expansion mutation.

doi:10.1136/jnnp-2017-316820

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

Community

Back to search

Article

Analysis of known amyotrophic lateral sclerosis and frontotemporal dementia genes reveals a substantial genetic burden in patients manifesting both diseases not carrying the C9orf72 expansion mutation.

Journal of neurology, neurosurgery, and psychiatry - 1 Feb 2018

Dols-Icardo Oriol, García-Redondo Alberto, Rojas-García Ricardo, Borrego-Hernández Daniel, Illán-Gala Ignacio, Muñoz-Blanco José Luís, Rábano Alberto, Cervera-Carles Laura, Juárez-Rufián Alexandra, Spataro Nino, De Luna Noemí, Galán Lucía, Cortes-Vicente Elena, Fortea Juan, Blesa Rafael, Grau-Rivera Oriol, Lleó Alberto, Esteban-Pérez Jesús, Gelpi Ellen, Clarimón Jordi

Abstract excerpt

Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are part of a clinical, pathological and genetic continuum. OBJECTIVES: The purpose of the present study was to assess the mutation burden that is present in patients with concurrent ALS and FTD (ALS/FTD) not carrying the chromosome 9 open reading frame 72 (C9orf72) hexanucleotide repeat expansion, the most important genetic cause in both...

Read the complete abstract on PubMed

Topics

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

Share to Amyotrophic Lateral Sclerosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Flavoproteins

Share to Frontotemporal Dementia

Share to Phosphoric Monoester Hydrolases

Share to Receptor, ErbB-4

Share to Sequestosome-1 Protein

Share to TATA-Binding Protein Associated Factors

Share to Valosin Containing Protein

Source

Open in PubMed

Identifiers

PMID: 28889094
DOI: 10.1136/jnnp-2017-316820

Genes

ERBB4
FIG4
TAF15
TBK1
SQSTM1
TARDBP
VCP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Analysis of known amyotrophic lateral sclerosis and frontotemporal dementia genes reveals a substantial genetic burden in patients manifesting both diseases not carrying the C9orf72 expansion mutation.PMID 28889094Read ↗

Comprehensive analysis of the mutation spectrum in 301 German ALS families.Semantic proximity Read ↗

Recent Updates on the Genetics of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia.Semantic proximity Read ↗

Clinico-genetic findings in 509 frontotemporal dementia patients.Semantic proximity Read ↗

ALS Genes in the Genomic Era and their Implications for FTD.Semantic proximity Read ↗

Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansionSemantic proximity Read ↗

The molecular basis of the frontotemporal lobar degeneration–amyotrophic lateral sclerosis spectrumSemantic proximity Read ↗

Underlying genetic variation in familial frontotemporal dementia: sequencing of 198 patients.Semantic proximity Read ↗

Advantages of routine next-generation sequencing over standard genetic testing in the amyotrophic lateral sclerosis clinic.Semantic proximity Read ↗

Tale of two diseases: amyotrophic lateral sclerosis and frontotemporal dementia.Semantic proximity Read ↗

Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS CohortSemantic proximity Read ↗

Unraveling the genetic landscape of ALS in Greece: identification of known and novel causative variants in a 353-patient cohort.Semantic proximity Read ↗

Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p.Semantic proximity Read ↗

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