Parkinsonism and essential tremor in a family with pseudo-dominant inheritance of PARK2: An FP-CIT SPECT study

✍ Scribed by Maria Teresa Pellecchia; Andrea Varrone; Grazia Annesi; Marianna Amboni; Giulio Cicarelli; Valeria Sansone; Ferdinanda Annesi; Francesca Emanuela Rocca; Carmine Vitale; Sabina Pappatà; Aldo Quattrone; Paolo Barone

• Publisher: John Wiley and Sons
• Year: 2007
• Tongue: English
• Weight: 314 KB
• Volume: 22
• Category: Article
• ISSN: 0885-3185
• DOI: 10.1002/mds.21262

✦ Synopsis

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. © 2006 Movement Disorder Society