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

Research output: Contribution to journalArticlepeer-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 languageEnglish
Pages (from-to)41-46
Number of pages6
JournalJournal of Alzheimer's Disease
Volume61
Issue number1
DOIs
Publication statusE-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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