TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration

Autor: Lina, Benajiba, Isabelle, Le Ber, Agnès, Camuzat, Mathieu, Lacoste, Catherine, Thomas-Anterion, Philippe, Couratier, Solenn, Legallic, François, Salachas, Didier, Hannequin, Marielle, Decousus, Lucette, Lacomblez, Eric, Guedj, Véronique, Golfier, William, Camu, Bruno, Dubois, Dominique, Campion, Vincent, Meininger, Alexis, Brice
Přispěvatelé: Neuroépidémiologie Tropicale et Comparée (NETEC), Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST FR CNRS 3503)-Institut d'Epidémiologie Neurologique et de Neurologie Tropicale-Université de Limoges (UNILIM), Service de Neurologie [CHU Limoges], CHU Limoges
Jazyk: angličtina
Rok vydání: 2009
Předmět:
Male
Pathology
DNA Mutational Analysis
medicine.disease_cause
0302 clinical medicine
Degenerative disease
Motoneuron disease
MESH: Motor Neuron Disease
MESH: DNA Mutational Analysis
MESH: Aged
0303 health sciences
Mutation
MESH: Middle Aged
Frontotemporal lobar degeneration
Middle Aged
MESH: Dementia
DNA-Binding Proteins
Neurology
Female
Adult
medicine.medical_specialty
MESH: Mutation
Phenylalanine
Semantic dementia
Biology
TARDBP
Central nervous system disease
03 medical and health sciences
MESH: Phenylalanine
mental disorders
medicine
Dementia
Humans
Motor Neuron Disease
030304 developmental biology
Aged
Family Health
MESH: Humans
nutritional and metabolic diseases
MESH: Adult
medicine.disease
MESH: Male
nervous system diseases
MESH: Family Health
[SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie
Neurology (clinical)
Neuroscience
MESH: Female
030217 neurology & neurosurgery
MESH: DNA-Binding Proteins
Zdroj: Annals of Neurology
Annals of Neurology, Wiley, 2009, 65 (4), pp.470-3. ⟨10.1002/ana.21612⟩
ISSN: 0364-5134
1531-8249
DOI: 10.1002/ana.21612⟩
Popis: International audience; 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.
Databáze: OpenAIRE
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