DJ-1 mutations and parkinsonism-dementia-amyotrophic lateral sclerosis complex

Brigida Fierro; Marco D'Amelio; Vincenzo La Bella; Paolo Ragonese; Giovanni Savettieri; Tommaso Piccoli; Gennarina Arabia; Innocenza Claudia Cirò Candiano; Donatella Civitelli; Ferdinanda Annesi; Manuela Caracciolo; Grazia Annesi; Pierfrancesco Pugliese; Aldo Quattrone; Patrizia Tarantino; Federico Piccoli

DJ-1 mutations and parkinsonism-dementia-amyotrophic lateral sclerosis complex

Brigida Fierro, Marco D'Amelio, Vincenzo La Bella, Paolo Ragonese, Giovanni Savettieri, Tommaso Piccoli, Gennarina Arabia, Innocenza Claudia Cirò Candiano, Donatella Civitelli, Ferdinanda Annesi, Manuela Caracciolo, Grazia Annesi, Pierfrancesco Pugliese, Aldo Quattrone, Patrizia Tarantino, Federico Piccoli

Biomedicina, Neuroscienze e Diagnostica avanzata

Risultato della ricerca: Article › peer review

118 Citazioni (Scopus)

Abstract

Mutations in DJ-1 gene have been recently shown to cause autosomal recessive early-onset Parkinson’s disease (EOPD) in a large Dutch family and in a small consanguineous Italian family.1 Subsequent to this initial finding, several additional DJ-1 mutations were identified in subjects with EOPD.2–6 We describe a family from southern Italy with three brothers affected by a complex disorder characterized by early-onset parkinsonism-dementia-amyotrophic lateral sclerosis (EOPD-D-ALS). The analysis of the DJ-1 gene showed a novel homozygous mutation (E163K) in exon 7 and a novel homozygous mutation(g.168_185dup) in the promoter region of this gene in living affected subjects

Lingua originale	English
pagine (da-a)	803-807
Numero di pagine	5
Rivista	Annals of Neurology
Volume	58
Stato di pubblicazione	Published - 2005

All Science Journal Classification (ASJC) codes

Neurology
Clinical Neurology

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DJ-1 mutations and parkinsonism-dementia-amyotrophic lateral sclerosis complex. / Fierro, Brigida ; D'Amelio, Marco ; La Bella, Vincenzo ; Ragonese, Paolo ; Savettieri, Giovanni ; Piccoli, Tommaso; Arabia, Gennarina; Candiano, Innocenza Claudia Cirò; Civitelli, Donatella; Annesi, Ferdinanda; Caracciolo, Manuela; Annesi, Grazia; Pugliese, Pierfrancesco; Quattrone, Aldo; Tarantino, Patrizia; Piccoli, Federico.

In: Annals of Neurology, Vol. 58, 2005, pag. 803-807.

Risultato della ricerca: Article › peer review

Fierro, Brigida ; D'Amelio, Marco ; La Bella, Vincenzo ; Ragonese, Paolo ; Savettieri, Giovanni ; Piccoli, Tommaso ; Arabia, Gennarina ; Candiano, Innocenza Claudia Cirò ; Civitelli, Donatella ; Annesi, Ferdinanda ; Caracciolo, Manuela ; Annesi, Grazia ; Pugliese, Pierfrancesco ; Quattrone, Aldo ; Tarantino, Patrizia ; Piccoli, Federico. / DJ-1 mutations and parkinsonism-dementia-amyotrophic lateral sclerosis complex. In: Annals of Neurology. 2005 ; Vol. 58. pagg. 803-807.

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abstract = "Mutations in DJ-1 gene have been recently shown to cause autosomal recessive early-onset Parkinson{\textquoteright}s disease (EOPD) in a large Dutch family and in a small consanguineous Italian family.1 Subsequent to this initial finding, several additional DJ-1 mutations were identified in subjects with EOPD.2–6 We describe a family from southern Italy with three brothers affected by a complex disorder characterized by early-onset parkinsonism-dementia-amyotrophic lateral sclerosis (EOPD-D-ALS). The analysis of the DJ-1 gene showed a novel homozygous mutation (E163K) in exon 7 and a novel homozygous mutation(g.168_185dup) in the promoter region of this gene in living affected subjects",

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T1 - DJ-1 mutations and parkinsonism-dementia-amyotrophic lateral sclerosis complex

AU - Fierro, Brigida

AU - D'Amelio, Marco

AU - La Bella, Vincenzo

AU - Ragonese, Paolo

AU - Savettieri, Giovanni

AU - Piccoli, Tommaso

AU - Arabia, Gennarina

AU - Candiano, Innocenza Claudia Cirò

AU - Civitelli, Donatella

AU - Annesi, Ferdinanda

AU - Caracciolo, Manuela

AU - Annesi, Grazia

AU - Pugliese, Pierfrancesco

AU - Quattrone, Aldo

AU - Tarantino, Patrizia

AU - Piccoli, Federico

PY - 2005

Y1 - 2005

N2 - Mutations in DJ-1 gene have been recently shown to cause autosomal recessive early-onset Parkinson’s disease (EOPD) in a large Dutch family and in a small consanguineous Italian family.1 Subsequent to this initial finding, several additional DJ-1 mutations were identified in subjects with EOPD.2–6 We describe a family from southern Italy with three brothers affected by a complex disorder characterized by early-onset parkinsonism-dementia-amyotrophic lateral sclerosis (EOPD-D-ALS). The analysis of the DJ-1 gene showed a novel homozygous mutation (E163K) in exon 7 and a novel homozygous mutation(g.168_185dup) in the promoter region of this gene in living affected subjects

AB - Mutations in DJ-1 gene have been recently shown to cause autosomal recessive early-onset Parkinson’s disease (EOPD) in a large Dutch family and in a small consanguineous Italian family.1 Subsequent to this initial finding, several additional DJ-1 mutations were identified in subjects with EOPD.2–6 We describe a family from southern Italy with three brothers affected by a complex disorder characterized by early-onset parkinsonism-dementia-amyotrophic lateral sclerosis (EOPD-D-ALS). The analysis of the DJ-1 gene showed a novel homozygous mutation (E163K) in exon 7 and a novel homozygous mutation(g.168_185dup) in the promoter region of this gene in living affected subjects

KW - DEGENERATION

KW - DISEASE

KW - GENE

KW - GUAM

KW - INCLUSIONS

KW - PARK7

KW - TAU

KW - DEGENERATION

KW - DISEASE

KW - GENE

KW - GUAM

KW - INCLUSIONS

KW - PARK7

KW - TAU

UR - http://hdl.handle.net/10447/21989

M3 - Article

VL - 58

SP - 803

EP - 807

JO - Annals of Neurology

JF - Annals of Neurology

SN - 0364-5134

ER -