Genetic screening for LRRK2 gene G2019S mutation in Parkinson's disease patients from Southern Italy(139 visite) De Rosa A, Criscuolo C, Mancini P, De Martino M, Giordano IA, Pappata S, Filla A, De Michele G
Parole chiave: Adult, Age Of Onset, Dna Mutational Analysis, Methods, Female, Fluorodeoxyglucose F18, Gene Frequency, Genetic Predisposition To Disease, Genetic Testing, Genotype, Glycine, Humans, Italy, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Middle Aged, Parkinson Disease, Diagnostic Imaging, Positron-Emission Tomography, Protein-Serine-Threonine Kinases, Young Adult,
*** IBB - CNR *** Department of Neurological Sciences, Federico II University, Via Pansini 5, 80131 Naples, Italy. firstname.lastname@example.org,
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.
65 Records (60 escludendo Abstract e Conferenze). Impact factor totale: 229.441 (205.61 escludendo Abstract e Conferenze). Impact factor a 5 anni totale: 251.609 (221.94 escludendo Abstract e Conferenze).