Permanent URL to this publication: http://dx.doi.org/10.5167/uzh-44605
Waibel, S; Neumann, M; Rabe, M; Meyer, T; Ludolph, A C (2010). Novel missense and truncating mutations in FUS/TLS in familial ALS. Neurology, 75(9):815-817.
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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.
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|Item Type:||Journal Article, refereed, original work|
|Communities & Collections:||04 Faculty of Medicine > University Hospital Zurich > Institute of Neuropathology|
|DDC:||570 Life sciences; biology
610 Medicine & health
|Deposited On:||11 Feb 2011 14:17|
|Last Modified:||05 Dec 2013 16:44|
|Publisher:||American Academy of Neurology|
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