Identification of the novel D297fsX318 PINK1 mutation and phenotype variation in a family with early onset Parkinson’s disease

Giuseppe Salemi, Paolo Ragonese, Giovanni Savettieri, Marco D'Amelio, Innocenza Claudia Cirò Candiano, Donatella Civitelli, Ferdinanda Annesi, Grazia Annesi, Aldo Quattrone, Patrizia Tarantino, Valeria Terruso

Research output: Contribution to journalArticlepeer-review

7 Citations (Scopus)

Abstract

Herein we first describe a novel homozygous single nucleotide deletion in PINK1 exon 4 (889delG) which results in a loss of kinase domain on the PINK1 protein (D297fsX318). This mutation was identified in two brothers with early-onset Parkinson disease (EOPD) from a Sicilian consanguineous family. Of note, while one of the two patients developed mental deterioration and psychiatric problems, the other showed no cognitive decline. The present study supports the view that PINK1 is a pathogenic gene in some Italian families with EOPD and contributes to define the PINK1-associated phenotype.
Original languageEnglish
Pages (from-to)509-512
Number of pages4
JournalPARKINSONISM & RELATED DISORDERS
Volume14
Publication statusPublished - 2008

All Science Journal Classification (ASJC) codes

  • Neurology
  • Geriatrics and Gerontology
  • Clinical Neurology

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