C19orf12 gene mutations in patients with neurodegeneration with brain iron accumulation.

Gagliardi, Monica; Annesi, Grazia; Lesca, G; Broussolle, E; Iannello, Grazia; Vaiti, Vincenzo; Gambardella, Antonio; Quattrone, Aldo

Gagliardi, Monica; Annesi, Grazia; Lesca, G; Broussolle, E; Iannello, Grazia; Vaiti, Vincenzo; Gambardella, Antonio; Quattrone, Aldo.

Afiliação

Gagliardi M; Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto (CZ), Italy. Electronic address: monicg_2002@yahoo.it.
Annesi G; Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto (CZ), Italy.
Lesca G; Hospices Civils de Lyon, Claude Bernard Lyon I University, Department of Medical Genetics, Lyon, France; CRNL, National Research Council, UMR 5292, INSERM U1028, Lyon, France.
Broussolle E; Université Lyon I, Centre de Neurosciences Cognitives, CNRS UMR5229, Lyon, France; Service de Neurologie C, Hôpital Neurologique Pierre Wertheimer, Lyon, France.
Iannello G; Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto (CZ), Italy; Institute of Neurology, Department of Medical and Surgical Sciences, University Magna Graecia, Catanzaro, Italy.
Vaiti V; Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto (CZ), Italy.
Gambardella A; Institute of Neurology, Department of Medical and Surgical Sciences, University Magna Graecia, Catanzaro, Italy.
Quattrone A; Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto (CZ), Italy; Institute of Neurology, Department of Medical and Surgical Sciences, University Magna Graecia, Catanzaro, Italy.

Parkinsonism Relat Disord ; 21(7): 813-6, 2015 Jul.

Article em En | MEDLINE | ID: mdl-25962551

RESUMO

A novel subtype of Neurodegeneration with Brain Iron Accumulation (NBIA) recently has been described: mitochondrial membrane protein-associated neurodegeneration (MPAN), caused by mutations of c19orf12 gene. We present phenotypic data and results of screening of C19orf12 in five unrelated NBIA families. Our data led to identify novel pathogenic mutations in C19orf12.

Assuntos

Encéfalo/metabolismo; Ferro/metabolismo; Proteínas Mitocondriais/genética; Mutação/genética; Doenças Neurodegenerativas/genética; Doenças Neurodegenerativas/metabolismo; Sequência de Aminoácidos; Encéfalo/patologia; Criança; Feminino; Humanos; Masculino; Proteínas de Transporte da Membrana Mitocondrial/genética; Dados de Sequência Molecular; Doenças Neurodegenerativas/diagnóstico; Linhagem; Adulto Jovem

Palavras-chave

C19orf12; Iron accumulation; MPAN; NBIA

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Encéfalo / Doenças Neurodegenerativas / Proteínas Mitocondriais / Ferro / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Child / Female / Humans / Male Idioma: En Revista: Parkinsonism Relat Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2015 Tipo de documento: Article País de publicação: Reino Unido

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