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Genetic screening for LRRK2 gene G2019S mutation in Parkinson's disease patients from Southern Italy (Articolo in rivista)

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Genetic screening for LRRK2 gene G2019S mutation in Parkinson's disease patients from Southern Italy (Articolo in rivista) (literal)

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De Rosa, A; Criscuolo, C; Mancini, P; De Martino, M; Giordano, AA; Pappata, S; Filla, A; Michele, G (2009)
Genetic screening for LRRK2 gene G2019S mutation in Parkinson's disease patients from Southern Italy
in Parkinsonism & related disorders; Elsevier Science Ltd., Oxford (Regno Unito)
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De Rosa, A; Criscuolo, C; Mancini, P; De Martino, M; Giordano, AA; Pappata, S; Filla, A; Michele, G (literal)

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Department of Neurological Sciences, Federico II University, Via Pansini 5, 80131 Naples, Italy Biostructure and Bioimaging Institute, CNR, Department of Biomorphological and Functional Sciences, Federico II University, Naples, Italy (literal)

Titolo

Genetic screening for LRRK2 gene G2019S mutation in Parkinson's disease patients from Southern Italy (literal)

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. (C) 2008 Elsevier Ltd. All rights reserved. (literal)

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