TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 19350673.
- Also identified by DOI 10.1002/ana.21612.
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Abstract
TDP-43 (TAR-DNA binding protein) aggregates in neuronal inclusions in motoneuron disease (MND), as well as in frontotemporal lobar degeneration (FTLD) and FTLD associated with MND (FTLD-MND). Mutations in TARDBP gene, coding for TDP-43, were found in patients with pure MND. We now describe TARDBP mutations in two patients with FTLD-MND, presenting with a behavioral variant of FTLD and semantic dementia, suggesting that TDP-43 may also have a direct pathogenic role in FTLD disorders.
Medical subject headings
- DNA-Binding Proteins
- Dementia
- Motor Neuron Disease
- Mutation