Affiliations: [a] Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy
| [b]
Neurology Unit of Careggi University Hospital, Florence, Italy
| [c] Department of Biomedical, Experimental and Clinical Sciences, “Mario Serio”, Nuclear Medicine Unit, University of Florence, Florence, Italy
| [d]
Internal Medicine of Careggi University Hospital, Florence, Italy
| [e] IRCCS Don Gnocchi, Florence, Italy
Correspondence:
[*]
Correspondence to: Benedetta Nacmias, Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Italy Viale Pieraccini 6, 50139 Florence, Italy. Tel.: +390557948910; Fax: +390552758265; E-mail: benedetta.nacmias@unifi.it.
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.
