Genetic screening for LRRK2 gene G2019S mutation in Parkinson's disease patients from Southern Italy
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Genetic screening for LRRK2 gene G2019S mutation in Parkinson's disease patients from Southern Italy (92 visite)

De Rosa A, Criscuolo C, Mancini P, De Martino M, Giordano IA, Pappata S, Filla A, De Michele G

Parkinsonism Relat D (ISSN: 1353-8020print, 1353-8020linking, 1873-5126electronic), 2009 Mar; 15(3): 242-244.



Tipo di articolo: Journal Article,

Impact factor: 2.406, Impact factor a 5 anni: 2.676

Url: https://www.scopus.com/inward/record.uri?eid=2-s2.0-60549089055&doi=10.1016%2fj.parkreldis.2008.05.011&partnerID=40&md5=01131889640baf61b2aa4947c7b56f98

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,

Affiliazioni:

*** IBB - CNR ***
Department of Neurological Sciences, Federico II University, Via Pansini 5, 80131 Naples, Italy. demichel@unina.it,


Riferimenti:

Non disponibile.

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.
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Bosco P, Caraci F, Copani A, Spada R, Sortino M, Salluzzo R, Salemi M, Nicoletti F, Ferri R
* The CDC2 I-G-T haplotype associated with the APOE ε4 allele increases the risk of sporadic Alzheimer's disease in Sicily (131 visite)
Neurosci Lett (ISSN: 0304-3940), 2007; 419(3): 195-198.
Impact Factor: 2.085
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Berkouk K, Quarantelli M, Prinster A, Landeau B, Alfano B, Baron JC
* Mapping The Relative Contribution Of Gray Matter Activity Versus Volume In Brain Pet. A New Approach (190 visite) (PDF 147 visite)
J Neuroimaging (ISSN: 1051-2284), 2006 Jul; 16(3): 224-235.
Impact Factor: 1.298
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Iaccarino G, Izzo R, Trimarco V, Cipolletta E, Lanni F, Sorriento D, Iovino GL, Rozza F, De Luca N, Priante O, Di Renzo G, Trimarco B
* β 2-Adrenergic receptor polymorphisms and treatment-induced regression of left ventricular hypertrophy in hypertension (133 visite)
Clin Pharmacol Ther Clinical Pharmacology And Therapeutics (ISSN: 0009-9236), 2006; 80(6): 633-645.
Impact Factor: 8.066
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Tedeschi G, Lavorgna L, Russo P, Prinster A, Dinacci D, Savettieri G, Quattrone A, Livrea P, Messina C, Reggio A, Bresciamorra V, Orefice G, Paciello M, Brunetti A, Coniglio G, Bonavita S, Di Costanzo A, Bellacosa A, Valentino P, Quarantelli M, Patti F, Salemi G, Cammarata E, Simone IL, Salvatore M, Bonavita V, Alfano B
* Brain atrophy and lesion load in a large population of patients with multiple sclerosis (198 visite) (PDF 170 visite)
Neurology (ISSN: 0028-3878, 1526-632x, 1526-632xelectronic), 2005 Jul 26; 65(2): 280-285.
Impact Factor: 5.065
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Cuocolo A
FDG imaging should be considered the preferred technique for accurate assessment of myocardial viability: against (97 visite)
Eur J Nucl Med (ISSN: 1619-7070print, 1619-7070linking, 1619-7089electronic), 2005 Jul; 32(7): 832-835.
Impact Factor: 3.883
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Criscuolo C, Mancini P, Menchise V, Sacca F, De Michele G, Banfi S, Filla A
* Very late onset in ataxia oculomotor apraxia type I [1] (133 visite)
Ann Neurol (ISSN: 0364-5134), 2005 May; 57(5): 777-777.
Impact Factor: 7.571
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Varrone A, Pellecchia MT, Amboni M, Sansone V, Salvatore E, Ghezzi D, Garavaglia B, Brice A, Brunetti A, Bonavita V, De Michele G, Salvatore M, Pappata S, Barone P
* Imaging of dopaminergic dysfunction with [123I]FP-CIT SPECT in early-onset parkin disease (181 visite)
Neurology (ISSN: 0028-3878, 1526-632x, 1526-632xelectronic), 2004 Dec 14; 63(11): 2097-2103.
Impact Factor: 5.973
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Quarantelli M, Berkouk K, Prinster A, Landeau B, Svarer C, Balkay L, Alfano B, Brunetti A, Baron JC, Salvatore M
* Integrated software for the analysis of brain PET/SPECT studies with partial-volume-effect correction (222 visite) (PDF 159 visite)
J Nucl Med (ISSN: 0161-5505, 1535-5667, 1535-5667electronic), 2004 Feb; 45(2): 192-201.
Impact Factor: 5.362
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Le Provost JB, Bartres-faz D, Paillere-martinot ML, Artiges E, Pappata S, Recasens C, Perez-gomez M, Bernardo M, Baeza I, Bayle F, Martinot JL
* Paracingulate sulcus morphology in men with early-onset schizophrenia (116 visite)
Br J Psychiatry (ISSN: 0007-1250), 2003 Mar; 182(MAR.): 228-232.
Impact Factor: 4.421
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Zingone A, Seidel J, Aloj L, Caraco C, Vaquero JJ, Jagoda EM, Chou JY, Green MV, Eckelman WC
* Monitoring the correction of glycogen storage disease type 1a in a mouse model using [18F]FDG and a dedicated animal scanner (106 visite)
Life Sci (ISSN: 0024-3205), 2002; 71(11): 1293-1301.
Impact Factor: 1.824
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Colao A, Cuocolo A, Di Somma C, Cerbone G, Della Morte A, Pivonello R, Nicolai E, Salvatore M, Lombardi G
Does the age of onset of growth hormone deficiency affect cardiac performance? A radionuclide angiography study (109 visite)
Clin Endocrinol (ISSN: 0300-0664, 1365-2265, 1365-2265electronic), 2000 Apr; 52(4): 447-455.
Impact Factor: 2.922
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Colao A, Cuocolo A, Marzullo P, Nicolai E, Ferone D, Della Morte A, Petretta M, Salvatore M, Lombardi G
Impact of patient's age and disease duration on cardiac performance in acromegaly: A radionuclide angiography study (111 visite)
J Clin Endocrinol Metab (ISSN: 0021-972x), 1999 May; 84(5): 1518-1523.
Impact Factor: 5.805
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De Michele G, Mainenti PP, Soricelli A, Di Salle F, Salvatore E, Longobardi MR, Postiglione A, Salvatore M, Filla A
Cerebral blood flow in spinocerebellar degenerations: a single photon emission tomography study in 28 patients (110 visite)
J Neurol (ISSN: 0340-5354, 1432-1459, 1432-1459electronic), 1998 Sep; 245(9): 603-608.
Impact Factor: 2.3
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Longobardi S, Cuocolo A, Merola B, Di Rella F, Colao A, Nicolai E, Cardei S, Salvatore M, Lombardi G
Left ventricular function in young adults with childhood and adulthood onset growth hormone deficiency (97 visite)
Clin Endocrinol (ISSN: 0300-0664, 1365-2265, 1365-2265electronic), 1998 Feb; 48(2): 137-143.
Impact Factor: 3.101
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Mainolfi C, Maurea S, Varrella P, Alaia C, Imparato C, Alfano B, Abate G, Bazzicalupo L
Positron-emission tomography with fluorine-18-deoxyglucose in the staging and control of patients with lymphoma. Comparison with clinico-radiologic assessment (105 visite)
Radiol Med (ISSN: 1826-6983, 0033-8362, 1826-6983electronic), 1998 Jan; 95(1-2): 98-104.
Impact Factor: 0.967
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Maurea S, Mainolfi C, Bazzicalupo L, Panico M, Imparato C, Alfano B, Ziviello M, Salvatore M
Characterization of adrenal tumors using F-18 FDG PET imaging: Comparison between benign and malignant lesions (175 visite) (PDF 141 visite)
J Nucl Med (ISSN: 0161-5505, 1535-5667, 1535-5667electronic), 1997 May; 38(5SUPPL.): 25-29.
Impact Factor: 3.491
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64 Records (59 escludendo Abstract e Conferenze).
Impact factor totale: 227.099 (203.268 escludendo Abstract e Conferenze).
Impact factor a 5 anni totale: 249.695 (220.026 escludendo Abstract e Conferenze).







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