title: Parkinsonism and essential tremor in a family with pseudo-dominant inheritance of PARK2: an FP-CIT SPECT study.
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.
authors.affiliation: Department of Neurological Sciences, University Federico II, Napoli, Italy. pellec3@hotmail.com
authors.forename: Maria Teresa
authors.initials: MT
authors.lastname: Pellecchia
authors.forename: Andrea
authors.initials: A
authors.lastname: Varrone
authors.forename: Grazia
authors.initials: G
authors.lastname: Annesi
authors.forename: Marianna
authors.initials: M
authors.lastname: Amboni
authors.forename: Giulio
authors.initials: G
authors.lastname: Cicarelli
authors.forename: Valeria
authors.initials: V
authors.lastname: Sansone
authors.forename: Ferdinanda
authors.initials: F
authors.lastname: Annesi
authors.forename: Francesca Emanuela
authors.initials: FE
authors.lastname: Rocca
authors.forename: Carmine
authors.initials: C
authors.lastname: Vitale
authors.forename: Sabina
authors.initials: S
authors.lastname: Pappatà
authors.forename: Aldo
authors.initials: A
authors.lastname: Quattrone
authors.forename: Paolo
authors.initials: P
authors.lastname: Barone
mesh_terms: D003342:Corpus Striatum / Q000378:metabolism / Q000503:physiopathology; D003937:Diagnosis, Differential; D020329:Essential Tremor / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D007457:Iodine Radioisotopes / Q000493:pharmacokinetics; D020125:Mutation, Missense / Q000235:genetics; D020734:Parkinsonian Disorders / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics; D016133:Polymerase Chain Reaction; D013378:Substantia Nigra / Q000378:metabolism / Q000503:physiopathology; D015899:Tomography, Emission-Computed, Single-Photon; D014326:Tropanes / Q000493:pharmacokinetics; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
chemical_list: D007457:Iodine Radioisotopes; D014326:Tropanes; C087552:2-carbomethoxy-8-(3-fluoropropyl)-3-(4-iodophenyl)tropane; D044767:Ubiquitin-Protein Ligases; C111567:parkin protein