A new risk gene associated with amyotrophic lateral sclerosis (ALS) has recently been identified: the Tank-binding kinase 1 (TBK1) gene. Up to now, 90 TBK1 variants have been described in ALS patients with or without frontotemporal dementia (FTD), thus making TBK1 the third or fourth most frequent genetic cause of ALS and FTD. A point mutation analysis in a cohort of 69 Italian ALS patients was performed in order to analyze the frequency of TBK1 mutations and the correlation with clinical phenotypes. The analysis identified the novel variant p.Tyr424Asp in a patient with a rapid progression of the disease. Our data supports the implication of TBK1 in ALS pathogenesis in Italy.

Association of the New Variant Tyr424Asp at TBK1 Gene with Amyotrophic Lateral Sclerosis and Cognitive Decline / Piaceri, Irene; Bessi, Valentina; Matã , Sabrina; Polito, Cristina; Tedde, Andrea; Berti, Valentina; Bagnoli, Silvia; Braccia, Arianna; Del Mastio, Monica; Alberto Moggi, Pignone; Pupi, Alberto; Sorbi, Sandro; Nacmias, Benedetta. - In: JOURNAL OF ALZHEIMER'S DISEASE. - ISSN 1387-2877. - STAMPA. - 61:(2018), pp. 41-46. [10.3233/JAD-170694]

Association of the New Variant Tyr424Asp at TBK1 Gene with Amyotrophic Lateral Sclerosis and Cognitive Decline

Piaceri, Irene
Investigation
;
Bessi, Valentina
Formal Analysis
;
Polito, Cristina
Methodology
;
Tedde, Andrea
Methodology
;
Berti, Valentina
Validation
;
Bagnoli, Silvia
Membro del Collaboration Group
;
Braccia, Arianna
Membro del Collaboration Group
;
Pignone, Alberto Moggi
Resources
;
Pupi, Alberto
Resources
;
Sorbi, Sandro
Supervision
;
Nacmias, Benedetta
Supervision
2018

Abstract

A new risk gene associated with amyotrophic lateral sclerosis (ALS) has recently been identified: the Tank-binding kinase 1 (TBK1) gene. Up to now, 90 TBK1 variants have been described in ALS patients with or without frontotemporal dementia (FTD), thus making TBK1 the third or fourth most frequent genetic cause of ALS and FTD. A point mutation analysis in a cohort of 69 Italian ALS patients was performed in order to analyze the frequency of TBK1 mutations and the correlation with clinical phenotypes. The analysis identified the novel variant p.Tyr424Asp in a patient with a rapid progression of the disease. Our data supports the implication of TBK1 in ALS pathogenesis in Italy.
2018
61
41
46
Goal 3: Good health and well-being for people
Piaceri, Irene; Bessi, Valentina; Matã , Sabrina; Polito, Cristina; Tedde, Andrea; Berti, Valentina; Bagnoli, Silvia; Braccia, Arianna; Del Mastio, Mo...espandi
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Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/1107100
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