Skip to main content
Passa alla visualizzazione normale.


Pari opportunità

GIUSEPPE SALEMI

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

  • Authors: SAVETTIERI G; ANNESI G; CIVITELLI D; CIR CANDIANO IC; SALEMI G; RAGONESE P; ANNESI F; TARANTINO P; TERRUSO V; D'AMELIO M; ALDO QUATTRONE
  • Publication year: 2008
  • Type: Articolo in rivista (Articolo in rivista)
  • Key words: Parkinson's disease; Familial forms; PINK1; Genotype–phenotype correlation
  • OA Link: http://hdl.handle.net/10447/34613

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.