HTRA2 p.G399S in Parkinson disease, essential tremor, and tremulous cervical dystonia

Proceedings of the National Academy of Sciences of the United States of America

Volumn 112, Issue 18, 2015, Pages E2268-

  Tzoulis, Charalampos ^a,b   Zayats, Tetyana ^b   Knappskog, Per Morten ^a,b   Müller, Bernd ^a,b   Larsen, Jan Petter ^c   Tysnes, Ole Bjørn ^a,b   Bindoff, Laurence A ^a,b   Johansson, Stefan ^a,b   Haugarvoll, Kristoffer ^a,b  

^a HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^b UNIVERSITY OF BERGEN   (Norway)

^c STAVANGER UNIVERSITY HOSPITAL   (Norway)

Author keywords

[No Author keywords available]

Indexed keywords

SERINE PROTEINASE OMI; MITOCHONDRIAL PROTEIN; SERINE PROTEINASE;

ARTICLE; ATTENTION DEFICIT DISORDER; CERVICAL DYSTONIA; ESSENTIAL TREMOR; FAMILY HISTORY; GENE FREQUENCY; GENOTYPE; HETEROZYGOTE; HUMAN; PARKINSON DISEASE; POPULATION; POPULATION DYNAMICS; POPULATION RESEARCH; PRIORITY JOURNAL; ENZYMOLOGY; FEMALE; GENETICS; MALE; MITOCHONDRION;

ESSENTIAL TREMOR; FEMALE; HUMANS; MALE; MITOCHONDRIA; MITOCHONDRIAL PROTEINS; PARKINSON DISEASE; SERINE ENDOPEPTIDASES;

EID: 84928974641     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1503105112     Document Type: Article

References (5)

1. Unal Gulsuner H, et al. (2014) Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease. Proc Natl Acad Sci USA 111(51):18285-18290.
2. Simón-Sánchez J, Singleton AB (2008) Sequencing analysis of OMI/HTRA2 shows previously reported pathogenic mutations in neurologically normal controls. Hum Mol Genet 17(13):1988-1993.
3. Ross OA, et al. (2008) Genetic variation of Omi/HtrA2 and Parkinson's disease. Parkinsonism Relat Disord 14(7):539-543.
4. Alves G, et al.; Norwegian ParkWest study group (2009) Incidence of Parkinson's disease in Norway: The Norwegian ParkWest study. J Neurol Neurosurg Psychiatry 80(8):851-857.
5. Rubio-Agusti I, et al. (2013) Tremulous cervical dystonia is likely to be familial: Clinical characteristics of a large cohort. Parkinsonism Relat Disord 19(6):634-638.