Parkinsonism and essential tremor in a family with pseudo-dominant inheritance of PARK2: an FP-CIT SPECT study. (Articolo in rivista)

Type
Label
  • Parkinsonism and essential tremor in a family with pseudo-dominant inheritance of PARK2: an FP-CIT SPECT study. (Articolo in rivista) (literal)
Anno
  • 2007-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1002/mds.21262 (literal)
Alternative label
  • Pellecchia MT, Varrone A, Annesi G, Amboni M, Cicarelli G, Sansone V, Annesi F, Rocca FE, Vitale C, Pappatà S, Quattrone A, Barone P. (2007)
    Parkinsonism and essential tremor in a family with pseudo-dominant inheritance of PARK2: an FP-CIT SPECT study.
    in Movement disorders; WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, NJ 07030 (Stati Uniti d'America)
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Pellecchia MT, Varrone A, Annesi G, Amboni M, Cicarelli G, Sansone V, Annesi F, Rocca FE, Vitale C, Pappatà S, Quattrone A, Barone P. (literal)
Pagina inizio
  • 559 (literal)
Pagina fine
  • 563 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 22 (literal)
Rivista
Note
  • ISI Web of Science (WOS) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • 1Department of Neurological Sciences, University Federico II, Napoli, Italy 2Biostructure and Bioimaging Institute, National Research Council, Napoli, Italy 3Institute of Neurological Sciences, National Research Council, Mangone, Cosenza, Italy 4Institute of Neurology, University of Magna Graecia, Catanzaro (literal)
Titolo
  • Parkinsonism and essential tremor in a family with pseudo-dominant inheritance of PARK2: an FP-CIT SPECT study. (literal)
Abstract
  • We report a family with 5 affected individuals manifesting either essential tremor (ET), Parkinsonism, or both, consistent with pseudo-dominant inheritance of PARK2. Two homozygotes presented postural and kinetic tremor several years before the onset of Parkinsonism. Postural and kinetic tremor mimicking ET was the only feature in 1 homozygous and 2 heterozygous carriers of the mutation. Striatal dopamine transporter density was reduced in accordance with phenotype and number of mutated alleles. In 3 homozygotes and 1 heterozygote, a 2-year follow-up single photon emission computed tomography suggested no progression of nigrostriatal deficit. (c) 2006 Movement Disorder Society. (literal)
Editore
Prodotto di
Autore CNR

Incoming links:


Autore CNR di
Prodotto
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi
Editore di
data.CNR.it