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Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease.
Neurology. 2008 Apr 15; 70(16 Pt 2):1456-60.Neur

Abstract

OBJECTIVE

Leucine-rich repeat kinase 2 (LRRK2) mutations are the most common cause of Parkinson disease (PD). Several dominantly inherited pathogenic substitutions have been identified in different domains of the Lrrk2 protein. Herein, we characterize the clinical and genetic features associated with Lrrk2 p.R1441C.

METHODS

We identified 33 affected and 15 unaffected LRRK2 c.4321C>T (p.R1441C) mutation carriers through an international consortium originating from three continents. The age-specific cumulative incidence of PD was calculated by Kaplan-Meier analysis.

RESULTS

The clinical presentation of Lrrk2 p.R1441C carriers was similar to sporadic PD and Lrrk2 p.G2019S parkinsonism. The mean age at onset for parkinsonism was 60 years, range 30-79 years; fewer than 20% of the patients had symptoms before the age 50 years, while by 75 years >90% of them had developed symptoms. Haplotype analysis suggests four independent founders for the p.R1441C mutation.

CONCLUSIONS

The distribution in age at onset and clinical features in Lrrk2 p.R1441C patients are similar to idiopathic and Lrrk2 p.G2019S parkinsonism. Several independent founders of the p.R1441C substitution suggest this site is prone to recurrent mutagenesis.

Authors+Show Affiliations

Department of Neurology, Mayo Clinic College of Medicine, Jacksonville, FL 32224, 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 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 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)

Comparative Study
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

18337586

Citation

Haugarvoll, K, et al. "Lrrk2 R1441C Parkinsonism Is Clinically Similar to Sporadic Parkinson Disease." Neurology, vol. 70, no. 16 Pt 2, 2008, pp. 1456-60.
Haugarvoll K, Rademakers R, Kachergus JM, et al. Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease. Neurology. 2008;70(16 Pt 2):1456-60.
Haugarvoll, K., Rademakers, R., Kachergus, J. M., Nuytemans, K., Ross, O. A., Gibson, J. M., Tan, E. K., Gaig, C., Tolosa, E., Goldwurm, S., Guidi, M., Riboldazzi, G., Brown, L., Walter, U., Benecke, R., Berg, D., Gasser, T., Theuns, J., Pals, P., ... Wszolek, Z. K. (2008). Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease. Neurology, 70(16 Pt 2), 1456-60. https://doi.org/10.1212/01.wnl.0000304044.22253.03
Haugarvoll K, et al. Lrrk2 R1441C Parkinsonism Is Clinically Similar to Sporadic Parkinson Disease. Neurology. 2008 Apr 15;70(16 Pt 2):1456-60. PubMed PMID: 18337586.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease. AU - Haugarvoll,K, AU - Rademakers,R, AU - Kachergus,J M, AU - Nuytemans,K, AU - Ross,O A, AU - Gibson,J M, AU - Tan,E-K, AU - Gaig,C, AU - Tolosa,E, AU - Goldwurm,S, AU - Guidi,M, AU - Riboldazzi,G, AU - Brown,L, AU - Walter,U, AU - Benecke,R, AU - Berg,D, AU - Gasser,T, AU - Theuns,J, AU - Pals,P, AU - Cras,P, AU - De Deyn,P Paul, AU - Engelborghs,S, AU - Pickut,B, AU - Uitti,R J, AU - Foroud,T, AU - Nichols,W C, AU - Hagenah,J, AU - Klein,C, AU - Samii,A, AU - Zabetian,C P, AU - Bonifati,V, AU - Van Broeckhoven,C, AU - Farrer,M J, AU - Wszolek,Z K, Y1 - 2008/03/12/ PY - 2008/3/14/pubmed PY - 2008/5/8/medline PY - 2008/3/14/entrez SP - 1456 EP - 60 JF - Neurology JO - Neurology VL - 70 IS - 16 Pt 2 N2 - OBJECTIVE: Leucine-rich repeat kinase 2 (LRRK2) mutations are the most common cause of Parkinson disease (PD). Several dominantly inherited pathogenic substitutions have been identified in different domains of the Lrrk2 protein. Herein, we characterize the clinical and genetic features associated with Lrrk2 p.R1441C. METHODS: We identified 33 affected and 15 unaffected LRRK2 c.4321C>T (p.R1441C) mutation carriers through an international consortium originating from three continents. The age-specific cumulative incidence of PD was calculated by Kaplan-Meier analysis. RESULTS: The clinical presentation of Lrrk2 p.R1441C carriers was similar to sporadic PD and Lrrk2 p.G2019S parkinsonism. The mean age at onset for parkinsonism was 60 years, range 30-79 years; fewer than 20% of the patients had symptoms before the age 50 years, while by 75 years >90% of them had developed symptoms. Haplotype analysis suggests four independent founders for the p.R1441C mutation. CONCLUSIONS: The distribution in age at onset and clinical features in Lrrk2 p.R1441C patients are similar to idiopathic and Lrrk2 p.G2019S parkinsonism. Several independent founders of the p.R1441C substitution suggest this site is prone to recurrent mutagenesis. SN - 1526-632X UR - https://www.unboundmedicine.com/medline/citation/18337586/Lrrk2_R1441C_parkinsonism_is_clinically_similar_to_sporadic_Parkinson_disease_ L2 - http://www.neurology.org/cgi/pmidlookup?view=long&pmid=18337586 DB - PRIME DP - Unbound Medicine ER -