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Titolo:
Positron emission tomographic analysis of the nigrostriatal dopaminergic system in familial parkinsonism associated with mutations in the parkin gene
Autore:
Hilker, R; Klein, C; Ghaemi, M; Kis, B; Strotmann, T; Ozelius, LJ; Lenz, O; Vieregge, P; Herholz, K; Heiss, WD; Pramstaller, PP;
Indirizzi:
Med Univ Cologne, Dept Neurol, Cologne, Germany Med Univ Cologne CologneGermany Cologne, Dept Neurol, Cologne, Germany Med Univ Lubeck, Inst Human Genet, D-23538 Lubeck, Germany Med Univ Lubeck Lubeck Germany D-23538 an Genet, D-23538 Lubeck, Germany Albert Einstein Coll Med, Dept Mol Genet, Bronx, NY 10467 USA Albert Einstein Coll Med Bronx NY USA 10467 ol Genet, Bronx, NY 10467 USA Max Planck Inst Neurol Res, Cologne, Germany Max Planck Inst Neurol Res Cologne Germany Neurol Res, Cologne, Germany Gen Reg Hosp, Dept Neurol, Bolzano, Italy Gen Reg Hosp Bolzano ItalyGen Reg Hosp, Dept Neurol, Bolzano, Italy
Titolo Testata:
ANNALS OF NEUROLOGY
fascicolo: 3, volume: 49, anno: 2001,
pagine: 367 - 376
SICI:
0364-5134(200103)49:3<367:PETAOT>2.0.ZU;2-2
Fonte:
ISI
Lingua:
ENG
Soggetto:
DOPA-RESPONSIVE DYSTONIA; PROGRESSIVE SUPRANUCLEAR PALSY; GTP CYCLOHYDROLASE-I; ALPHA-SYNUCLEIN GENE; C-11 RACLOPRIDE; JUVENILE PARKINSONISM; DISEASE; RECEPTOR; STRIATUM; PET;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
40
Recensione:
Indirizzi per estratti:
Indirizzo: Heiss, WD Univ Cologne, Neurol Klin & Poliklin, Joseph Stelzmann Str 9, D-50924 Cologne, Germany Univ Cologne Joseph Stelzmann Str 9 Cologne GermanyD-50924 any
Citazione:
R. Hilker et al., "Positron emission tomographic analysis of the nigrostriatal dopaminergic system in familial parkinsonism associated with mutations in the parkin gene", ANN NEUROL, 49(3), 2001, pp. 367-376

Abstract

A kindred from South Tyrol (northern Italy) with familial, adult-onset parkinsonism of pseudo-dominant inheritance and mutations in the parkin gene was recently described. To gain insight into basal ganglia dysfunction in this form of hereditary parkinsonism, positron emission tomography (PET) with18-fluorodopa (FDOPA) and C-11-raclopride (RAC) was performed in 5 affected family members and 5 asymptomatic relatives with proven compound heterozygous or heterozygous parkin mutations. Results were compared to findings inhealthy control subjects and patients with typical sporadic, idiopathic Parkinson's disease. Similar to findings in the sporadic Parkinson's disease group, presynaptic striatal FDOPA storage was decreased in patients with compound heterozygous parkin mutations, with the most prominent reduction in the posterior part of the putamen. Along with the presynaptic lowered FDOPAuptake, we found a uniform reduction of the striatal C-11-raclopride binding index in all affected family members as compared to asymptomatic family members carrying a heterozygous parkin mutation, sporadic Parkinson's disease, and control subjects. Our PET data provide evidence that parkinsonism in this family is associated with presynaptic dopaminergic dysfunction similar to idiopathic Parkinson's disease pathophysiology, along with alterations at the postsynaptic D2 receptor level. In asymptomatic carriers of a single parkin mutation with an apparently normal allele, we found a mild but statistically significant decrease of mean FDOPA uptake compared to control subjects in all striatal regions. These data indicate a preclinical disease process in these subjects.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 20/06/19 alle ore 17:54:19