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

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

Risultato della ricerca: Article

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

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Parkinson Disease
Phenotype
Mutation
Psychiatry
Siblings
Exons
Phosphotransferases
Nucleotides
Genes
Proteins
Cognitive Dysfunction

All Science Journal Classification (ASJC) codes

  • Neurology
  • Geriatrics and Gerontology
  • Clinical Neurology

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Identification of the novel D297fsX318 PINK1 mutation and phenotype variation in a family with early onset Parkinson’s disease. / D'Amelio, Marco; Salemi, Giuseppe; Ragonese, Paolo; Savettieri, Giovanni; Cirò Candiano, Innocenza Claudia; Civitelli, Donatella; Annesi, Ferdinanda; Annesi, Grazia; Quattrone, Aldo; Tarantino, Patrizia; Terruso, Valeria.

In: PARKINSONISM & RELATED DISORDERS, Vol. 14, 2008, pag. 509-512.

Risultato della ricerca: Article

D'Amelio, Marco ; Salemi, Giuseppe ; Ragonese, Paolo ; Savettieri, Giovanni ; Cirò Candiano, Innocenza Claudia ; Civitelli, Donatella ; Annesi, Ferdinanda ; Annesi, Grazia ; Quattrone, Aldo ; Tarantino, Patrizia ; Terruso, Valeria. / Identification of the novel D297fsX318 PINK1 mutation and phenotype variation in a family with early onset Parkinson’s disease. In: PARKINSONISM & RELATED DISORDERS. 2008 ; Vol. 14. pagg. 509-512.
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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.",
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T1 - Identification of the novel D297fsX318 PINK1 mutation and phenotype variation in a family with early onset Parkinson’s disease

AU - D'Amelio, Marco

AU - Salemi, Giuseppe

AU - Ragonese, Paolo

AU - Savettieri, Giovanni

AU - Cirò Candiano, Innocenza Claudia

AU - Civitelli, Donatella

AU - Annesi, Ferdinanda

AU - Annesi, Grazia

AU - Quattrone, Aldo

AU - Tarantino, Patrizia

AU - Terruso, Valeria

PY - 2008

Y1 - 2008

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AB - 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.

KW - Familial forms

KW - Genotype–phenotype correlation

KW - PINK1

KW - Parkinson's disease

UR - http://hdl.handle.net/10447/34613

M3 - Article

VL - 14

SP - 509

EP - 512

JO - PARKINSONISM & RELATED DISORDERS

JF - PARKINSONISM & RELATED DISORDERS

SN - 1353-8020

ER -