The impact of rare variants in FUS in essential tremor.
Mov Disord.. 2015-01-28; 30(5): 721-724
DOI: 10.1002/mds.26145
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1. Mov Disord. 2015 Apr 15;30(5):721-4. doi: 10.1002/mds.26145. Epub 2015 Jan 28.
The impact of rare variants in FUS in essential tremor.
Hopfner F(1), Stevanin G, Müller SH, Mundwiller E, Bungeroth M, Durr A,
Pendziwiat M, Anheim M, Schneider SA, Tittmann L, Klebe S, Lorenz D, Deuschl G,
Brice A, Kuhlenbäumer G.
Author information:
(1)Department of Neurology, University Hospital Schleswig Holstein, Kiel,
Germany.
OBJECTIVE: We analyzed the coding region of the Fused in Sarcoma (FUS) gene in
familial essential tremor (ET) and reviewed previous studies assessing FUS
variants in ET.
BACKGROUND: ET is often a familial disorder with an autosomal dominant
inheritance pattern. A potentially causative variant in FUS has been identified
in one ET family. Subsequent studies described further putatively causal
variants.
METHODS: We performed DNA sequencing of FUS in 85 unrelated, familial German and
French definite ET patients.
RESULTS: We did not find novel variants affecting the protein sequence. Seven
previously published studies and data from the exome variant server (EVS) showed
that rare exonic variants in FUS are not more frequent in ET than in the general
population.
CONCLUSIONS: Our findings provide no evidence for a role of rare genetic variants
in the pathogenesis of ET, apart from the initially published FUS mutation
segregating in a large ET family.
© 2015 International Parkinson and Movement Disorder Society.
DOI: 10.1002/mds.26145
PMID: 25631824 [Indexed for MEDLINE]