TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration
Copyright policy )TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration
AbstractTDP‐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. Ann Neurol 2009;65:470–474
- Charles University Czech Republic
- Assistance Publique -Hopitaux De Paris France
- Inserm France
- Centre Hospitalier Universitaire de Rennes France
- Dehradun Institute of Technology University India
Adult, Male, MESH: Mutation, Phenylalanine, DNA Mutational Analysis, 610, MESH: Phenylalanine, MESH: Motor Neuron Disease, Humans, MESH: DNA Mutational Analysis, Motor Neuron Disease, Aged, MESH: Aged, Family Health, MESH: Humans, MESH: Middle Aged, MESH: Adult, Middle Aged, MESH: Dementia, MESH: Male, DNA-Binding Proteins, Mutation, MESH: Family Health, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, Dementia, Female, MESH: Female, MESH: DNA-Binding Proteins
Adult, Male, MESH: Mutation, Phenylalanine, DNA Mutational Analysis, 610, MESH: Phenylalanine, MESH: Motor Neuron Disease, Humans, MESH: DNA Mutational Analysis, Motor Neuron Disease, Aged, MESH: Aged, Family Health, MESH: Humans, MESH: Middle Aged, MESH: Adult, Middle Aged, MESH: Dementia, MESH: Male, DNA-Binding Proteins, Mutation, MESH: Family Health, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, Dementia, Female, MESH: Female, MESH: DNA-Binding Proteins
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