Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease.

ABSTRACT: Essential tremor is one of the most frequent movement disorders of humans and can be associated with substantial disability. Some but not all persons with essential tremor develop signs of Parkinson disease, and the relationship between the conditions has not been clear. In a six-generation consanguineous Turkish kindred with both essential tremor and Parkinson disease, we carried out whole exome sequencing and pedigree analysis, identifying HTRA2 p.G399S as the allele likely responsible for both conditions. Essential tremor was present in persons either heterozygous or homozygous for this allele. Homozygosity was associated with earlier age at onset of tremor (P < 0.0001), more severe postural tremor (P < 0.0001), and more severe kinetic tremor (P = 0.0019). Homozygotes, but not heterozyg

SUBMITTER: Unal Gulsuner H 

PROVIDER: S-EPMC4280582 | biostudies-literature | 2014 Dec

REPOSITORIES: biostudies-literature