Essential tremor (ET): genetics and pathology
Evidence-based neurology checklist on essential tremor (et): genetics and pathology: FUS gene mutations This is the most frequent mutation The transmission is autosomal dominant There is complete penetrance by the age of 65 years Other gene mutations Magnetic resonance imaging (MRI) brain features…
FUS gene mutations
- This is the most frequent mutation
- The transmission is autosomal dominant
- There is complete penetrance by the age of 65 years
Other gene mutations
Magnetic resonance imaging (MRI) brain features
Skin phosphorylated alpha synuclein
References
- Stolze H, Petersen G, Raethjen J, Wenzelburger R, Deuschl G. The gait disorder of advanced essential tremor. Brain 2001; 124:2278-2286.
- Rajput A, Rajput AH, Rajput ML, et al. Identification of FUS p.R377W in essential tremor. Eur J Neurol 2014; 21:361-363.
- Merner ND, Girard SL, Catoire H, et al. Exome sequencing identifies FUS mutations as a cause of essential tremor. Am J Hum Genet 2012; 91:313-319.
- Müller SH, Girard SL, Hopfner F, et al. Genome-wide association study in essential tremor identifies three new loci. Brain 2016; 139:3163-3169.
- Sun QY, Xu Q, Tian Y, et al. Expansion of GGC repeat in the human-specific NOTCH2NLC gene is associated with essential tremor. Brain 2020; 143:222-233.
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