RT Journal Article
SR Electronic
T1 Novel missense and truncating mutations in <em>FUS/TLS</em> in familial ALS
JF Neurology
JO Neurology
FD Lippincott Williams &amp; Wilkins
SP 815
OP 817
DO 10.1212/WNL.0b013e3181f07e26
VO 75
IS 9
A1 Waibel, S.
A1 Neumann, M.
A1 Rabe, M.
A1 Meyer, T.
A1 Ludolph, A.C.
YR 2010
UL http://n.neurology.org/content/75/9/815.abstract
AB Background: Mutations in the FUS/TLS gene have been associated with familial amyotrophic lateral sclerosis (FALS). Methods: We analyzed the presence and frequency of C-terminal FUS/TLS mutations in a German amyotrophic lateral sclerosis (ALS) cohort, including 133 patients with sporadic ALS (SALS) and 58 patients with FALS by sequence analysis of exons 13–15. Results: We identified 2 novel heterozygous FUS/TLS mutations in 4 German ALS families including the novel missense mutation K510R and the truncating mutation R495X. The truncating mutation was associated with an aggressive disease course whereas the K510R mutation showed a mild phenotype with disease duration ranging from 6 to 8 years. No mutation was detected in 133 patients with SALS. Conclusions: Mutations in FUS/TLS account for 7% (4 of 58) of FALS in our German cohort.