Mutations in the Cu/Zn superoxide dismutase (SOD1), transactive response (TAR)-DNA binding protein (TARDBP) and fused in sarcoma (FUS) genes account for approximately 1 third of familial amyotrophic lateral sclerosis (ALS) cases. Mutations in these genes have been found in 1% to 2% of apparently sporadic cases. We present the first case of an ALS patient carrying a de novo missense mutation of the FUS gene (c.1561CT, p.R521C). This report highlights the importance of screening ALS patients, both familial and sporadic, for FUS mutations and also suggests that de novo mutations is a relevant mechanism underlying sporadic neurodegenerative disease.

A de novo missense mutation of the FUS gene in a "true" sporadic ALS case

CHIO', Adriano;CALVO, Andrea;MOGLIA, CRISTINA;BRUNETTI, Maura;
2011-01-01

Abstract

Mutations in the Cu/Zn superoxide dismutase (SOD1), transactive response (TAR)-DNA binding protein (TARDBP) and fused in sarcoma (FUS) genes account for approximately 1 third of familial amyotrophic lateral sclerosis (ALS) cases. Mutations in these genes have been found in 1% to 2% of apparently sporadic cases. We present the first case of an ALS patient carrying a de novo missense mutation of the FUS gene (c.1561CT, p.R521C). This report highlights the importance of screening ALS patients, both familial and sporadic, for FUS mutations and also suggests that de novo mutations is a relevant mechanism underlying sporadic neurodegenerative disease.
2011
32
553.e23
553.e26
Chiò A; Calvo A; Moglia C; Ossola I; Brunetti M; Sbaiz L; Lai SL; Abramzon Y; Traynor BJ; Restagno G
File in questo prodotto:
File Dimensione Formato  
Neurobiol Aging 2010 - Chio - De novo FUS mutation.pdf

Accesso riservato

Tipo di file: POSTPRINT (VERSIONE FINALE DELL’AUTORE)
Dimensione 450.14 kB
Formato Adobe PDF
450.14 kB Adobe PDF   Visualizza/Apri   Richiedi una copia

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2318/78484
Citazioni
  • ???jsp.display-item.citation.pmc??? 27
  • Scopus 55
  • ???jsp.display-item.citation.isi??? 50
social impact