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

Irene Piaceri; Valentina Bessi; Sabrina Matà; Cristina Polito; Andrea Tedde; Valentina Berti; Silvia Bagnoli; Arianna Braccia; Monica Del Mastio; Alberto Moggi Pignone; Alberto Pupi; Sandro Sorbi; Benedetta Nacmias

doi:10.3233/JAD-170694

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

Irene Piaceri, Valentina Bessi, Sabrina Matà, Cristina Polito, Andrea Tedde, Valentina Berti, Silvia Bagnoli, Arianna Braccia, Monica Del Mastio, Alberto Moggi Pignone, Alberto Pupi, Sandro Sorbi, Benedetta Nacmias

Fondazione Don Carlo Gnocchi Onlus

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	41-46
Number of pages	6
Journal	Journal of Alzheimer's Disease
Volume	61
Issue number	1
DOIs	https://doi.org/10.3233/JAD-170694
Publication status	E-pub ahead of print - Oct 2017

Keywords

Amyotrophic lateral sclerosis
genetics
Italy
missense mutation

ASJC Scopus subject areas

Clinical Psychology
Geriatrics and Gerontology
Psychiatry and Mental health

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Association of the New Variant Tyr424Asp at TBK1 Gene with Amyotrophic Lateral Sclerosis and Cognitive Decline. / Piaceri, Irene; Bessi, Valentina; Matà, Sabrina; Polito, Cristina; Tedde, Andrea; Berti, Valentina; Bagnoli, Silvia; Braccia, Arianna; Del Mastio, Monica; Pignone, Alberto Moggi; Pupi, Alberto; Sorbi, Sandro; Nacmias, Benedetta.

In: Journal of Alzheimer's Disease, Vol. 61, No. 1, 10.2017, p. 41-46.

Research output: Contribution to journal › Article › peer-review

Piaceri, Irene ; Bessi, Valentina ; Matà, Sabrina ; Polito, Cristina ; Tedde, Andrea ; Berti, Valentina ; Bagnoli, Silvia ; Braccia, Arianna ; Del Mastio, Monica ; Pignone, Alberto Moggi ; Pupi, Alberto ; Sorbi, Sandro ; Nacmias, Benedetta. / Association of the New Variant Tyr424Asp at TBK1 Gene with Amyotrophic Lateral Sclerosis and Cognitive Decline. In: Journal of Alzheimer's Disease. 2017 ; Vol. 61, No. 1. pp. 41-46.

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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.",

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AU - Tedde, Andrea

AU - Berti, Valentina

AU - Bagnoli, Silvia

AU - Braccia, Arianna

AU - Del Mastio, Monica

AU - Pignone, Alberto Moggi

AU - Pupi, Alberto

AU - Sorbi, Sandro

AU - Nacmias, Benedetta

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AB - 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.

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