A step toward essential tremor gene discovery: identification of extreme phenotype and screening of HTRA2 and ANO3

Mathilde Renaud, Christophe Marcel, Gabrielle Rudolf , Mickaël Schaeffer, Ouhaïd Lagha-Boukbiza, Jean-Baptiste Chanson, Jamel Chelly, Mathieu Anheim, Christine Tranchant 


Abstract

Background

Sanger SequencingEssential tremor (ET) is characterized by a frequent family history. No monogenic form of ET has been identified. We aimed at exploring ET patients to identify distinct subgroups and facilitate the identification of ET genes. We tested for the presence of HTRA2 p.G399S, and ANO3 p. W490C, p. R484 W and p. S685G mutations.

Conclusions

Our data support that distinct ET phenotypic subgroups may be encountered. We recommend to study separately extreme phenotypes of ET, particularly autosomal dominant families with early AAO (<30 years) and marked benefit of alcohol, to facilitate the identification of ET genes. Electromyographic recording remains a support to distinguish ET from differential diagnosis. HTRA2 and ANO3 mutations are not common causes of ET.

 

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Source

BioMed Central