Article
Parkinsonism and essential tremor in a family with pseudo-dominant inheritance of PARK2: an FP-CIT SPECT study.
Movement disorders : official journal of the Movement Disorder Society - 15 Mar 2007
Pellecchia Maria Teresa, Varrone Andrea, Annesi Grazia, Amboni Marianna, Cicarelli Giulio, Sansone Valeria, Annesi Ferdinanda, Rocca Francesca Emanuela, Vitale Carmine, Pappatà Sabina, Quattrone Aldo, Barone Paolo
Abstract excerpt
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...
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