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

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

Risultato della ricerca: Articlepeer review

7 Citazioni (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.
Lingua originaleEnglish
pagine (da-a)509-512
Numero di pagine4
RivistaPARKINSONISM & RELATED DISORDERS
Volume14
Stato di pubblicazionePublished - 2008

All Science Journal Classification (ASJC) codes

  • Neurology
  • Geriatrics and Gerontology
  • Clinical Neurology

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