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Parkinson's disease due to the R1441G mutation in Dardarin: a founder effect in the Basques.
Mov Disord. 2006 Nov; 21(11):1954-9.MD

Abstract

The recent discovery of mutations in Dardarin (LRRK2) have been related to the appearance of Parkinson's disease in several families. Notably, one single mutation in this gene (R1441G) not only appeared in familial, but also in apparently sporadic Parkinson disease (PD) patients of Basque descent. A clinical population was ascertained, and subjects were classified into Basque and non-Basque descent according to their known ancestry. The R1441G mutation was assayed using an allele-specific polymerase chain reaction, and several single nucleotide polymorphisms surrounding this mutation were analyzed by direct sequencing. In addition to 22 members of the original Basque families where R1441G was identified, we observed 17 carriers of the mutation who were apparently related through a common ancestor. From a clinical perspective, the disease observed in mutation carriers is indistinguishable from that in noncarriers. The R1441G mutation causes a form of Parkinson's disease that is equivalent to that observed in idiopathic Parkinson's disease. This mutation appears in 16.4% and 4.0% of familial and sporadic PD in this Basque population, respectively.

Authors+Show Affiliations

Unitat de Genètica Molecular, Institut de Biomedicina de València-CSIC, València, Spain.No 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., Intramural
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

16991141

Citation

Simón-Sánchez, Javier, et al. "Parkinson's Disease Due to the R1441G Mutation in Dardarin: a Founder Effect in the Basques." Movement Disorders : Official Journal of the Movement Disorder Society, vol. 21, no. 11, 2006, pp. 1954-9.
Simón-Sánchez J, Martí-Massó JF, Sánchez-Mut JV, et al. Parkinson's disease due to the R1441G mutation in Dardarin: a founder effect in the Basques. Mov Disord. 2006;21(11):1954-9.
Simón-Sánchez, J., Martí-Massó, J. F., Sánchez-Mut, J. V., Paisán-Ruiz, C., Martínez-Gil, A., Ruiz-Martínez, J., Sáenz, A., Singleton, A. B., López de Munain, A., & Pérez-Tur, J. (2006). Parkinson's disease due to the R1441G mutation in Dardarin: a founder effect in the Basques. Movement Disorders : Official Journal of the Movement Disorder Society, 21(11), 1954-9.
Simón-Sánchez J, et al. Parkinson's Disease Due to the R1441G Mutation in Dardarin: a Founder Effect in the Basques. Mov Disord. 2006;21(11):1954-9. PubMed PMID: 16991141.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Parkinson's disease due to the R1441G mutation in Dardarin: a founder effect in the Basques. AU - Simón-Sánchez,Javier, AU - Martí-Massó,José-Félix, AU - Sánchez-Mut,José Vicente, AU - Paisán-Ruiz,Coro, AU - Martínez-Gil,Angel, AU - Ruiz-Martínez,Javier, AU - Sáenz,Amets, AU - Singleton,Andrew B, AU - López de Munain,Adolfo, AU - Pérez-Tur,Jordi, PY - 2006/9/23/pubmed PY - 2007/2/21/medline PY - 2006/9/23/entrez SP - 1954 EP - 9 JF - Movement disorders : official journal of the Movement Disorder Society JO - Mov Disord VL - 21 IS - 11 N2 - The recent discovery of mutations in Dardarin (LRRK2) have been related to the appearance of Parkinson's disease in several families. Notably, one single mutation in this gene (R1441G) not only appeared in familial, but also in apparently sporadic Parkinson disease (PD) patients of Basque descent. A clinical population was ascertained, and subjects were classified into Basque and non-Basque descent according to their known ancestry. The R1441G mutation was assayed using an allele-specific polymerase chain reaction, and several single nucleotide polymorphisms surrounding this mutation were analyzed by direct sequencing. In addition to 22 members of the original Basque families where R1441G was identified, we observed 17 carriers of the mutation who were apparently related through a common ancestor. From a clinical perspective, the disease observed in mutation carriers is indistinguishable from that in noncarriers. The R1441G mutation causes a form of Parkinson's disease that is equivalent to that observed in idiopathic Parkinson's disease. This mutation appears in 16.4% and 4.0% of familial and sporadic PD in this Basque population, respectively. SN - 0885-3185 UR - https://www.unboundmedicine.com/medline/citation/16991141/Parkinson's_disease_due_to_the_R1441G_mutation_in_Dardarin:_a_founder_effect_in_the_Basques_ L2 - https://doi.org/10.1002/mds.21114 DB - PRIME DP - Unbound Medicine ER -