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Mutations in LRRK2 other than G2019S are rare in a north American-based sample of familial Parkinson's disease.
Mov Disord. 2006 Dec; 21(12):2257-60.MD

Abstract

A total of 956 individuals with Parkinson's disease (PD) from 430 multiplex PD pedigrees were screened for 12 previously reported, pathogenic LRRK2 mutations: R793M, L1114L, I1371V, R1441C, R1441G, R1441H, Y1699C, M1869T, I2012T, I2020T, G2385R, and IVS31 +3G > A. Previous screening identified the LRRK2 G2019S mutation in 5% of our families. Only 1 of the 12 newly screened mutations, R1441C, was detected in a single family in our patient cohort. These results indicate that, although the G2019S mutation remains the most common mutation identified in familial PD patients, other mutations in LRRK2 are infrequent.

Authors+Show Affiliations

Indiana University Medical Center, Indianapolis, Indiana, USA.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)

Comparative Study
Journal Article
Research Support, N.I.H., Extramural

Language

eng

PubMed ID

17078063

Citation

Pankratz, Nathan, et al. "Mutations in LRRK2 Other Than G2019S Are Rare in a North American-based Sample of Familial Parkinson's Disease." Movement Disorders : Official Journal of the Movement Disorder Society, vol. 21, no. 12, 2006, pp. 2257-60.
Pankratz N, Pauciulo MW, Elsaesser VE, et al. Mutations in LRRK2 other than G2019S are rare in a north American-based sample of familial Parkinson's disease. Mov Disord. 2006;21(12):2257-60.
Pankratz, N., Pauciulo, M. W., Elsaesser, V. E., Marek, D. K., Halter, C. A., Rudolph, A., Shults, C. W., Foroud, T., & Nichols, W. C. (2006). Mutations in LRRK2 other than G2019S are rare in a north American-based sample of familial Parkinson's disease. Movement Disorders : Official Journal of the Movement Disorder Society, 21(12), 2257-60.
Pankratz N, et al. Mutations in LRRK2 Other Than G2019S Are Rare in a North American-based Sample of Familial Parkinson's Disease. Mov Disord. 2006;21(12):2257-60. PubMed PMID: 17078063.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mutations in LRRK2 other than G2019S are rare in a north American-based sample of familial Parkinson's disease. AU - Pankratz,Nathan, AU - Pauciulo,Michael W, AU - Elsaesser,Veronika E, AU - Marek,Diane K, AU - Halter,Cheryl A, AU - Rudolph,Alice, AU - Shults,Clifford W, AU - Foroud,Tatiana, AU - Nichols,William C, AU - ,, PY - 2006/11/2/pubmed PY - 2007/2/21/medline PY - 2006/11/2/entrez SP - 2257 EP - 60 JF - Movement disorders : official journal of the Movement Disorder Society JO - Mov Disord VL - 21 IS - 12 N2 - A total of 956 individuals with Parkinson's disease (PD) from 430 multiplex PD pedigrees were screened for 12 previously reported, pathogenic LRRK2 mutations: R793M, L1114L, I1371V, R1441C, R1441G, R1441H, Y1699C, M1869T, I2012T, I2020T, G2385R, and IVS31 +3G > A. Previous screening identified the LRRK2 G2019S mutation in 5% of our families. Only 1 of the 12 newly screened mutations, R1441C, was detected in a single family in our patient cohort. These results indicate that, although the G2019S mutation remains the most common mutation identified in familial PD patients, other mutations in LRRK2 are infrequent. SN - 0885-3185 UR - https://www.unboundmedicine.com/medline/citation/17078063/Mutations_in_LRRK2_other_than_G2019S_are_rare_in_a_north_American_based_sample_of_familial_Parkinson's_disease_ L2 - https://doi.org/10.1002/mds.21162 DB - PRIME DP - Unbound Medicine ER -