Details

Autor(en) / Beteiligte

• Labbé, Catherine
• Soto-Ortolaza, Alexandra I
• Rayaprolu, Sruti
• Harriott, Andrea M
• Strongosky, Audrey J
• Uitti, Ryan J
• Van Gerpen, Jay A
• Wszolek, Zbigniew K
• Ross, Owen A

Titel

Investigating the role of FUS exonic variants in Essential Tremor

Ist Teil von

• Parkinsonism & related disorders, 2013-08, Vol.19 (8), p.755-757

Ort / Verlag

England: Elsevier Ltd

Erscheinungsjahr

2013

Link zum Volltext

Quelle

MEDLINE

Beschreibungen/Notizen

• Abstract Essential Tremor is the most common form of movement disorder. Aggregation in families suggests a strong genetic component to disease. Linkage and association studies have identified several risk loci but the specific causal variants are still unknown. A recent study using whole exome sequencing identified a rare nonsense variant in the FUS gene (p.Q290X) that segregated with Essential Tremor in a large French Canadian family. In addition, two other rare FUS variants were identified (p.R216C and p.P431L) in Essential Tremor patients however co-segregation analysis with disease was not possible. In the present study, we sequenced all 15 exons of FUS in 152 familial probands with Essential Tremor and genotyped three reported FUS variants in 112 sporadic Essential Tremor patients and 716 control subjects recruited at Mayo Clinic Florida. Only known synonymous SNPs unlikely to be pathogenic were detected in our sequencing and not any of the recently identified mutations or novel ones. We conclude that the FUS mutations associated with risk of Essential Tremor are probably a rare occurrence.