Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism

Author

BONIFATI, Vincenzo^{1 2} ; RIZZU, Patrizia¹ ; VAN DONGEN, Jeroen W¹ ; VANACORE, Nicola^{2 6} ; VAN SWIETEN, John C⁷ ; BRICE, Alexis⁵ ; MECO, Giuseppe² ; VAN DUIJN, Cornelia M¹ ; OOSTRA, Ben A¹ ; HEUTINK, Peter¹ ; VAN BAREN, Marijke J¹ ; SCHAAP, Onno¹ ; BREEDVELD, Guido J¹ ; KRIEGER, Elmar³ ; DEKKER, Marieke C. J¹ ; SQUITIERI, Ferdinando⁴ ; IBANEZ, Pablo⁵ ; JOOSSE, Marijke¹
[1] Genetic-Epidemiologic Unit, Department of Clinical Genetics, Department of Epidemiology and Biostatistics, Erasmus Medical Center Rotterdam, Post Office Box 1738, 3000 DR Rotterdam, Netherlands
[2] Department of Neurological Sciences, La Sapienza University, Viale dell'Università 30, 00185 Rome, Italy
[3] Centre for Molecular and Biomolecular Informatics, University Medical Center Nijmegen, Geert Grooteplein Zuid 30, 6525 GA Nijmegen, Netherlands
[4] Neurogenetics Unit, IRCCS INM Neuromed, Locality Camerelle, 86077 Pozzilli, Italy
[5] INSERM U 289, Hôpital de la Salpêtrière, 47 Boulevard de l'Hôpital, 75013 Paris, France
[6] Laboratory of Epidemiology and Biostatistics, National Institute for Health, 00161 Roma, Italy
[7] Department of Neurology, Erasmus Medical Center Rotterdam, Dr. Molewaterplein 40, 3015 GD Rotterdam, Netherlands

Source

Science (Washington, D.C.). 2003, Vol 299, Num 5604, pp 256-259, 4 p

CODEN

SCIEAS

ISSN

0036-8075

Scientific domain

Multidisciplinary

Publisher

American Association for the Advancement of Science, Washington, DC

Publication country

United States

Document type

Article

Language

English

Keyword (fr)

Age apparition Caractère autosomique Caractère récessif Etude familiale Gène Homme Mutation Parkinson maladie Parkinsonisme Précoce Gène DJ 1 Encéphale pathologie Extrapyramidal syndrome Génétique Maladie dégénérative Système nerveux central pathologie Système nerveux pathologie

Keyword (en)

Age of onset Autosomal character Recessive character Family study Gene Human Mutation Parkinson disease Parkinsonism Early Cerebral disorder Extrapyramidal syndrome Genetics Degenerative disease Central nervous system disease Nervous system diseases

Keyword (es)

Edad aparición Carácter autosómico Carácter recesivo Estudio familiar Gen Hombre Mutación Parkinson enfermedad Parkinson síndrome Precoz Encéfalo patología Extrapiramidal síndrome Genética Enfermedad degenerativa Sistema nervosio central patología Sistema nervioso patología

Classification

Pascal

002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17G Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases

Discipline

Neurology

Origin

Inist-CNRS

Database

PASCAL

INIST identifier

14470820

Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS