PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of Parkinsonism

Chiara Criscuolo, Giampiero Volpe, Anna De Rosa, Andrea Varrone, Roberta Marongiu, Pietro Mancini, Elena Salvatore, Bruno Dallapiccola, Alessandro Filla, Enza Maria Valente, Giuseppe De Michele

Research output: Contribution to journalArticlepeer-review

Abstract

We analyzed the PINK1 gene in 58 patients with early-onset Parkinsonism and detected the homozygous mutation W437X in 1 patient. The clinical phenotype was characterized by early onset (22 years of age), good response to levodopa, early fluctuations and dyskinesias, and psychiatric symptoms. The mother, heterozygote for W437X mutation, was affected by Parkinson's disease and 3 further relatives were reported affected, according to an autosomal dominant transmission.

Original languageEnglish
Pages (from-to)1265-1267
Number of pages3
JournalMovement Disorders
Volume21
Issue number8
DOIs
Publication statusPublished - Aug 2006

Keywords

  • Early onset
  • Familial Parkinsonism
  • PARK6
  • PINK1

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

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