Details

Autor(en) / Beteiligte

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

Titel

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

Ist Teil von

• Parkinsonism & related disorders, 2008-08, Vol.14 (6), p.509-512

Ort / Verlag

England: Elsevier Ltd

Erscheinungsjahr

2008

Link zum Volltext

Quelle

Access via ScienceDirect (Elsevier)

Beschreibungen/Notizen

• 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.