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Genetic screening for LRRK2 gene G2019S mutation in Parkinson's disease patients from Southern Italy.
Parkinsonism Relat Disord. 2009 Mar; 15(3):242-4.PR

Abstract

Leuchine-rich repeat kinase 2 (LRRK2) gene mutations are a common cause of familial and sporadic Parkinson disease (PD). G2019S is the most frequent mutation of the LRRK2 gene and has been reported in about 5-6% of familial and 1-2% of sporadic PD cases. The aim of this study is to investigate the G2019S frequency in a series of 58 familial and 70 sporadic PD patients recruited from Campania, a region in Southern Italy. We identified one heterozygous G2019S mutation in a PD patient who also suffered from obsessive disorder and depression and presented hallucinations and delusional jealousy while he was treated with l-dopa, pramipexole, and amantadine. Brain (18)F-deoxy-glucose PET showed relative decrease of glucose metabolism in the caudate nuclei and to a lesser extent in cortical parietal/frontal regions. The patient's mother also had PD and molecular analysis demonstrated that she carried the same mutation. G2019S mutation frequency is rather low in overall patients (0.8%) and in the familial group (1.7%), suggesting that it may be an uncommon cause of PD in Southern Italy.

Authors+Show Affiliations

Department of Neurological Sciences, Federico II University, Via Pansini 5, 80131 Naples, Italy. demichel@unina.itNo 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

Language

eng

PubMed ID

18621566

Citation

De Rosa, Anna, et al. "Genetic Screening for LRRK2 Gene G2019S Mutation in Parkinson's Disease Patients From Southern Italy." Parkinsonism & Related Disorders, vol. 15, no. 3, 2009, pp. 242-4.
De Rosa A, Criscuolo C, Mancini P, et al. Genetic screening for LRRK2 gene G2019S mutation in Parkinson's disease patients from Southern Italy. Parkinsonism Relat Disord. 2009;15(3):242-4.
De Rosa, A., Criscuolo, C., Mancini, P., De Martino, M., Giordano, I. A., Pappatà, S., Filla, A., & De Michele, G. (2009). Genetic screening for LRRK2 gene G2019S mutation in Parkinson's disease patients from Southern Italy. Parkinsonism & Related Disorders, 15(3), 242-4. https://doi.org/10.1016/j.parkreldis.2008.05.011
De Rosa A, et al. Genetic Screening for LRRK2 Gene G2019S Mutation in Parkinson's Disease Patients From Southern Italy. Parkinsonism Relat Disord. 2009;15(3):242-4. PubMed PMID: 18621566.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Genetic screening for LRRK2 gene G2019S mutation in Parkinson's disease patients from Southern Italy. AU - De Rosa,Anna, AU - Criscuolo,Chiara, AU - Mancini,Pietro, AU - De Martino,Marina, AU - Giordano,Ilaria Anna, AU - Pappatà,Sabina, AU - Filla,Alessandro, AU - De Michele,Giuseppe, Y1 - 2008/07/14/ PY - 2008/03/04/received PY - 2008/04/30/revised PY - 2008/05/01/accepted PY - 2008/7/16/pubmed PY - 2009/4/21/medline PY - 2008/7/16/entrez SP - 242 EP - 4 JF - Parkinsonism & related disorders JO - Parkinsonism Relat Disord VL - 15 IS - 3 N2 - Leuchine-rich repeat kinase 2 (LRRK2) gene mutations are a common cause of familial and sporadic Parkinson disease (PD). G2019S is the most frequent mutation of the LRRK2 gene and has been reported in about 5-6% of familial and 1-2% of sporadic PD cases. The aim of this study is to investigate the G2019S frequency in a series of 58 familial and 70 sporadic PD patients recruited from Campania, a region in Southern Italy. We identified one heterozygous G2019S mutation in a PD patient who also suffered from obsessive disorder and depression and presented hallucinations and delusional jealousy while he was treated with l-dopa, pramipexole, and amantadine. Brain (18)F-deoxy-glucose PET showed relative decrease of glucose metabolism in the caudate nuclei and to a lesser extent in cortical parietal/frontal regions. The patient's mother also had PD and molecular analysis demonstrated that she carried the same mutation. G2019S mutation frequency is rather low in overall patients (0.8%) and in the familial group (1.7%), suggesting that it may be an uncommon cause of PD in Southern Italy. SN - 1353-8020 UR - https://www.unboundmedicine.com/medline/citation/18621566/Genetic_screening_for_LRRK2_gene_G2019S_mutation_in_Parkinson's_disease_patients_from_Southern_Italy_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1353-8020(08)00154-5 DB - PRIME DP - Unbound Medicine ER -