Open AccessHTRA2 p.G399S in Parkinson disease, essential tremor, and tremulous cervical dystonia
Author(s) -
Charalampos Tzoulis,
Tetyana Zayats,
Per M. Knappskog,
Bernd Müller,
Jan Larsen,
OleBjørn Tysnes,
Laurence A. Bindoff,
Stefan Johansson,
Kristoffer Haugarvoll
Publication year - 2015
Publication title -
proceedings of the national academy of sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 5.011
H-Index - 771
eISSN - 1091-6490
pISSN - 0027-8424
DOI - 10.1073/pnas.1503105112
Subject(s) - cervical dystonia , essential tremor , dystonia , medicine , disease , parkinson's disease , neuroscience , physical medicine and rehabilitation , biology , pathology
Unal Gulsuner et al. (1) report that a variant in the HtrA serine peptidase 2 (HTRA2) gene [c.1195G > A (p.G399S); rs72470545] caused essential tremor in a large consanguineous Turkish family. The p.G399S substitution was found in both heterozygous and homozygous states, and the number of copies correlated with earlier age of onset and more severe tremor in homozygous individuals. Additionally, parkinsonism developed in five affected family members, after age 70 in heterozygotes and in middle age in homozygotes. The p.G399S substitution was not found in further Parkinson disease or essential tremor patients. Two heterozygous carriers were found among 364 Turkish controls. The p.G399S substitution has not been found more frequent in Parkinson …
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