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Current insights into the C9orf72 repeat expansion diseases of the FTLD/ALS spectrum.

Trends in neurosciences - 1 Aug 2013

Cruts Marc, Gijselinck Ilse, Van Langenhove Tim, van der Zee Julie, Van Broeckhoven Christine

Abstract excerpt

An expanded G4C2 hexanucleotide repeat in the proximal regulatory region of C9orf72 is a frequent cause of neurodegenerative diseases in the frontotemporal lobar degeneration (FTLD) and motor neuron disease (MND) spectrum. Although primarily characterized by variably abundant pathological inclusions of TDP-43 protein, the lesion load was extended to TDP-43-negative, p62-positive neuronal and glial inclusions in...

Topics

Amyotrophic Lateral Sclerosis
C9orf72 Protein
DNA Repeat Expansion
DNA-Binding Proteins
Frontotemporal Lobar Degeneration
Genetic Predisposition to Disease
Humans
Inclusion Bodies
Models, Genetic
Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 23746459
DOI: 10.1016/j.tins.2013.04.010

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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