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
Department of Neurological Sciences, University Federico II, Napoli, Italy.
Mov Disord. 2007 Mar 15;22(4):559-63. doi: 10.1002/mds.21262.
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.
我们报告了一个有5名受累个体的家系，这些个体表现为特发性震颤（ET）、帕金森综合征或两者皆有，符合PARK2的拟显性遗传。两名纯合子在帕金森综合征发病前数年出现姿势性和运动性震颤。1名纯合子和2名该突变的杂合子携带者仅表现出类似ET的姿势性和运动性震颤。纹状体多巴胺转运体密度根据表型和突变等位基因数量而降低。在3名纯合子和1名杂合子中，一项为期2年的随访单光子发射计算机断层扫描显示黑质纹状体缺陷无进展。
