Essential tremor (ET): genetics and pathology
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Essential tremor (ET): genetics and pathology. This is the most frequent mutation. Fully referenced neurology checklist.
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
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Magnetic resonance imaging (MRI) brain features
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Skin phosphorylated alpha synuclein
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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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