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Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism.
Parkinsonism Relat Disord. 2009 Jul; 15(6):466-7.PR

Abstract

The Roc domain of the Lrrk2 protein harbors two pathogenic mutations which cause autosomal dominant parkinsonism (R1441C and R1441G). A third putatively pathogenic variant (R1441H) has been identified in four probands of diverse ethnicity with parkinsonism. Herein we show that the R1441H substitutions lie on different haplotypes within our patients, confirming this codon as a mutational hotspot. The absence of this variant in control subjects and the presence of two other pathogenic variants at this amino acid position collectively support the contention that R1441H is a pathogenic substitution.

Authors+Show Affiliations

Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA. ross.owen@mayo.eduNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, Non-P.H.S.

Language

eng

PubMed ID

18952485

Citation

Ross, Owen A., et al. "Haplotype Analysis of Lrrk2 R1441H Carriers With Parkinsonism." Parkinsonism & Related Disorders, vol. 15, no. 6, 2009, pp. 466-7.
Ross OA, Spanaki C, Griffith A, et al. Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism. Parkinsonism Relat Disord. 2009;15(6):466-7.
Ross, O. A., Spanaki, C., Griffith, A., Lin, C. H., Kachergus, J., Haugarvoll, K., Latsoudis, H., Plaitakis, A., Ferreira, J. J., Sampaio, C., Bonifati, V., Wu, R. M., Zabetian, C. P., & Farrer, M. J. (2009). Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism. Parkinsonism & Related Disorders, 15(6), 466-7. https://doi.org/10.1016/j.parkreldis.2008.09.001
Ross OA, et al. Haplotype Analysis of Lrrk2 R1441H Carriers With Parkinsonism. Parkinsonism Relat Disord. 2009;15(6):466-7. PubMed PMID: 18952485.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism. AU - Ross,Owen A, AU - Spanaki,Cleanthe, AU - Griffith,Alida, AU - Lin,Chin-Hsien, AU - Kachergus,Jennifer, AU - Haugarvoll,Kristoffer, AU - Latsoudis,Helen, AU - Plaitakis,Andreas, AU - Ferreira,Joaquim J, AU - Sampaio,Cristina, AU - Bonifati,Vincenzo, AU - Wu,Ruey-Meei, AU - Zabetian,Cyrus P, AU - Farrer,Matthew J, Y1 - 2008/10/26/ PY - 2008/07/15/received PY - 2008/09/09/revised PY - 2008/09/13/accepted PY - 2008/10/28/pubmed PY - 2009/9/18/medline PY - 2008/10/28/entrez SP - 466 EP - 7 JF - Parkinsonism & related disorders JO - Parkinsonism Relat Disord VL - 15 IS - 6 N2 - The Roc domain of the Lrrk2 protein harbors two pathogenic mutations which cause autosomal dominant parkinsonism (R1441C and R1441G). A third putatively pathogenic variant (R1441H) has been identified in four probands of diverse ethnicity with parkinsonism. Herein we show that the R1441H substitutions lie on different haplotypes within our patients, confirming this codon as a mutational hotspot. The absence of this variant in control subjects and the presence of two other pathogenic variants at this amino acid position collectively support the contention that R1441H is a pathogenic substitution. SN - 1873-5126 UR - https://www.unboundmedicine.com/medline/citation/18952485/Haplotype_analysis_of_Lrrk2_R1441H_carriers_with_parkinsonism_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1353-8020(08)00270-8 DB - PRIME DP - Unbound Medicine ER -