Homozygous mutations in TREM2 have been recently identified by exome sequencing in families presenting with frontotemporal dementia (FTD)-like phenotype. No study has evaluated the exact frequency of TREM2 mutations in cohorts of FTD patients so far. We sequenced TREM2 in 175 patients with pure FTD, mostly French, to test whether mutations could be implicated in the pathogenesis of the disease. No disease-causing mutation was identified in 175 individuals from the French cohort of FTD patients. We did not identify the polymorphism p.R47H (rs75932628), strongly associated with an increased risk of developing Alzheimer's disease. We conclude that TREM2 mutations are extremely rare in patients with pure FTD, although further investigation in larger populations is needed.

Lattante, S., Le Ber, I., Camuzat, A., Dayan, S., Godard, C., Van Bortel, I., De Septenville, A., Ciura, S., Brice, A., Kabashi, E., TREM2 mutations are rare in a French cohort of patients with frontotemporal dementia, <<NEUROBIOLOGY OF AGING>>, 2013; 34 (10): 2443.e1-2443.e1-2. [doi:10.1016/j.neurobiolaging.2013.04.030] [http://hdl.handle.net/10807/65596]

TREM2 mutations are rare in a French cohort of patients with frontotemporal dementia

Lattante, Serena;
2013

Abstract

Homozygous mutations in TREM2 have been recently identified by exome sequencing in families presenting with frontotemporal dementia (FTD)-like phenotype. No study has evaluated the exact frequency of TREM2 mutations in cohorts of FTD patients so far. We sequenced TREM2 in 175 patients with pure FTD, mostly French, to test whether mutations could be implicated in the pathogenesis of the disease. No disease-causing mutation was identified in 175 individuals from the French cohort of FTD patients. We did not identify the polymorphism p.R47H (rs75932628), strongly associated with an increased risk of developing Alzheimer's disease. We conclude that TREM2 mutations are extremely rare in patients with pure FTD, although further investigation in larger populations is needed.
Inglese
Lattante, S., Le Ber, I., Camuzat, A., Dayan, S., Godard, C., Van Bortel, I., De Septenville, A., Ciura, S., Brice, A., Kabashi, E., TREM2 mutations are rare in a French cohort of patients with frontotemporal dementia, <<NEUROBIOLOGY OF AGING>>, 2013; 34 (10): 2443.e1-2443.e1-2. [doi:10.1016/j.neurobiolaging.2013.04.030] [http://hdl.handle.net/10807/65596]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10807/65596
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