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Genetic screening for the LRRK2 R1441C and G2019S mutations in Parkinsonian patients from Campania.
J Parkinsons Dis. 2014; 4(1):123-8.JP

Abstract

BACKGROUND

PARK8 is the most common known mendelian form of Parkinson's Disease (PD). It is due to mutations in the leucine-rich repeat kinase 2 (LRRK2) gene and G2019S is considered the most frequent mutation in the Caucasian population, in particular in the Southern Europe and Mediterranean countries.

OBJECTIVE

We assessed the frequency of the G2019S and R1441C/H/G mutations in 513 (311 M and 202 F) unrelated PD patients from Campania, in Southern Italy.

METHODS

Three hundreds and thirty-six patients presented a sporadic disease, and 177 had a familial history of PD or tremor. Three hundreds and eighty cases originated from the province of Naples. We compared our LRRK2 mutation carriers to idiopathic PD patients matched for recruiting center, gender, age and age at onset.

RESULTS

Thirteen patients (8 M and 5 F) carried the R1441C mutation and 4 (3 M and 1 F) the G2019S mutation, all in heterozygous state. All carriers originated from the province of Naples. No carriers of the R1441H or R1441G mutations were found. The LRRK2 mutation carriers were clinically similar to idiopathic PD patients. The R1441C and G2019S mutations are not rare causes of PD in Campania, especially in the province of Naples and among the familial cases, where the overall mutation prevalence is 6.8%.

CONCLUSIONS

The R1441C prevalence was higher than that of G2019S (2.5% vs 0.8%), underlining the importance of the geographical differencies in LRRK2 mutation frequency for molecular screening and genetic counseling of PD patients.

Authors+Show Affiliations

Department of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.Department of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.Department of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.Department of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.Department of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.Department of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.Department of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.Center for Neurodegenerative Diseases, University of Salerno, Italy.Movement Disorder Center, Department of Neurology, Second University of Naples, Italy.Movement Disorder Center, Department of Neurology, Second University of Naples, Italy.Department of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.Movement Disorder Center, Department of Neurology, Second University of Naples, Italy.Center for Neurodegenerative Diseases, University of Salerno, Italy.Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.Department of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

24496098

Citation

De Rosa, Anna, et al. "Genetic Screening for the LRRK2 R1441C and G2019S Mutations in Parkinsonian Patients From Campania." Journal of Parkinson's Disease, vol. 4, no. 1, 2014, pp. 123-8.
De Rosa A, De Michele G, Guacci A, et al. Genetic screening for the LRRK2 R1441C and G2019S mutations in Parkinsonian patients from Campania. J Parkinsons Dis. 2014;4(1):123-8.
De Rosa, A., De Michele, G., Guacci, A., Carbone, R., Lieto, M., Peluso, S., Picillo, M., Barone, P., Salemi, F., Laiso, A., Saccà, F., Tessitore, A., Pellecchia, M. T., Bonifati, V., & Criscuolo, C. (2014). Genetic screening for the LRRK2 R1441C and G2019S mutations in Parkinsonian patients from Campania. Journal of Parkinson's Disease, 4(1), 123-8. https://doi.org/10.3233/JPD-130312
De Rosa A, et al. Genetic Screening for the LRRK2 R1441C and G2019S Mutations in Parkinsonian Patients From Campania. J Parkinsons Dis. 2014;4(1):123-8. PubMed PMID: 24496098.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Genetic screening for the LRRK2 R1441C and G2019S mutations in Parkinsonian patients from Campania. AU - De Rosa,Anna, AU - De Michele,Giuseppe, AU - Guacci,Anna, AU - Carbone,Rosa, AU - Lieto,Maria, AU - Peluso,Silvio, AU - Picillo,Marina, AU - Barone,Paolo, AU - Salemi,Fabrizio, AU - Laiso,Antonio, AU - Saccà,Francesco, AU - Tessitore,Alessandro, AU - Pellecchia,Maria Teresa, AU - Bonifati,Vincenzo, AU - Criscuolo,Chiara, PY - 2014/2/6/entrez PY - 2014/2/6/pubmed PY - 2014/10/15/medline KW - LRRK2 gene mutations KW - Parkinson's Disease KW - campania KW - genetic screening SP - 123 EP - 8 JF - Journal of Parkinson's disease JO - J Parkinsons Dis VL - 4 IS - 1 N2 - BACKGROUND: PARK8 is the most common known mendelian form of Parkinson's Disease (PD). It is due to mutations in the leucine-rich repeat kinase 2 (LRRK2) gene and G2019S is considered the most frequent mutation in the Caucasian population, in particular in the Southern Europe and Mediterranean countries. OBJECTIVE: We assessed the frequency of the G2019S and R1441C/H/G mutations in 513 (311 M and 202 F) unrelated PD patients from Campania, in Southern Italy. METHODS: Three hundreds and thirty-six patients presented a sporadic disease, and 177 had a familial history of PD or tremor. Three hundreds and eighty cases originated from the province of Naples. We compared our LRRK2 mutation carriers to idiopathic PD patients matched for recruiting center, gender, age and age at onset. RESULTS: Thirteen patients (8 M and 5 F) carried the R1441C mutation and 4 (3 M and 1 F) the G2019S mutation, all in heterozygous state. All carriers originated from the province of Naples. No carriers of the R1441H or R1441G mutations were found. The LRRK2 mutation carriers were clinically similar to idiopathic PD patients. The R1441C and G2019S mutations are not rare causes of PD in Campania, especially in the province of Naples and among the familial cases, where the overall mutation prevalence is 6.8%. CONCLUSIONS: The R1441C prevalence was higher than that of G2019S (2.5% vs 0.8%), underlining the importance of the geographical differencies in LRRK2 mutation frequency for molecular screening and genetic counseling of PD patients. SN - 1877-718X UR - https://www.unboundmedicine.com/medline/citation/24496098/Genetic_screening_for_the_LRRK2_R1441C_and_G2019S_mutations_in_Parkinsonian_patients_from_Campania_ L2 - https://content.iospress.com/openurl?genre=article&id=doi:10.3233/JPD-130312 DB - PRIME DP - Unbound Medicine ER -