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

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

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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 originaleEnglish
pagine (da-a)803-807
Numero di pagine5
RivistaAnnals of Neurology
Volume58
Stato di pubblicazionePublished - 2005

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All Science Journal Classification (ASJC) codes

  • Neurology
  • Clinical Neurology

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D'Amelio, M., Piccoli, T., La Bella, V., Savettieri, G., Fierro, B., Ragonese, P., Arabia, G., Candiano, I. C. C., Civitelli, D., Annesi, F., Caracciolo, M., Annesi, G., Pugliese, P., Quattrone, A., Tarantino, P., & Piccoli, F. (2005). DJ-1 mutations and parkinsonism-dementia-amyotrophic lateral sclerosis complex. Annals of Neurology, 58, 803-807.