Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease
Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease
Where did the research take place?
The study site has not been established. Author addresses may differ from where the research occurred.
Ankara, TR · Author affiliation
Department of Neurology, Faculty of Medicine, Ankara University, Ankara 06100, Turkey;Location evidence
Mersin, TR · Author affiliation
Department of Neurology, Faculty of Medicine, Mersin University, Mersin 33343, Turkey; andLocation evidence
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Original abstract
Significance Essential tremor is one of the most frequent movement disorders of humans, but its causes remain largely unknown. In a six-generation family with both essential tremor and Parkinson disease, we identified a rare missense mutation of HTRA2 as the causative allele. Family members homozygous for this allele were more severely affected than those heterozygous for this allele. The same mutation had been associated with Parkinson characteristics in mouse mutants and with Parkinson disease in some, but not all, epidemiologic studies. Our results suggest that HTRA2 may be responsible for essential tremor in some families and that homozygosity for damaging alleles of HTRA2 may be responsible for Parkinson disease.