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Bertoli‐Avella, Aida M.; Giroud‐Benitez, José L.; Akyol, Ali; Barbosa, Egberto; Schaap, Onno; van der Linde, Herma C.; Martignoni, Emilia; Lopiano, Leonardo; Lamberti, Paolo; Fincati, Emiliana; Antonini, Angelo; Stocchi, Fabrizio; Montagna, Pasquale; Squitieri, Ferdinando; Marini, Paolo; Abbruzzese, Giovanni; Fabbrini, Giovanni; Marconi, Roberto; Dalla Libera, Alessio; Trianni, Giorgio; Guidi, Marco; De Gaetano, Antonio; Boff Maegawa, Gustavo; De Leo, Antonino; [...]

Novel parkin mutations detected in patients with early‐onset Parkinson's disease

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  • Media type: E-Article
  • Title: Novel parkin mutations detected in patients with early‐onset Parkinson's disease
  • Contributor: Bertoli‐Avella, Aida M.; Giroud‐Benitez, José L.; Akyol, Ali; Barbosa, Egberto; Schaap, Onno; van der Linde, Herma C.; Martignoni, Emilia; Lopiano, Leonardo; Lamberti, Paolo; Fincati, Emiliana; Antonini, Angelo; Stocchi, Fabrizio; Montagna, Pasquale; Squitieri, Ferdinando; Marini, Paolo; Abbruzzese, Giovanni; Fabbrini, Giovanni; Marconi, Roberto; Dalla Libera, Alessio; Trianni, Giorgio; Guidi, Marco; De Gaetano, Antonio; Boff Maegawa, Gustavo; De Leo, Antonino; [...]
  • imprint: Wiley, 2005
  • Published in: Movement Disorders
  • Language: English
  • DOI: 10.1002/mds.20343
  • ISSN: 1531-8257; 0885-3185
  • Keywords: Neurology (clinical) ; Neurology
  • Origination:
  • Footnote:
  • Description: <jats:title>Abstract</jats:title><jats:p>A multiethnic series of patients with early‐onset Parkinson's disease (EOP) was studied to assess the frequency and nature of <jats:italic>parkin</jats:italic>/PARK2 gene mutations and to investigate phenotype–genotype relationships. Forty‐six EOP probands with an onset age of &lt;45 years, and 14 affected relatives were ascertained from Italy, Brazil, Cuba, and Turkey. The genetic screening included direct sequencing and exon dosage using a new, cost‐effective, real‐time polymerase chain reaction method. Mutations were found in 33% of the indexes overall, and in 53% of those with family history compatible with autosomal recessive inheritance. Fifteen <jats:italic>parkin</jats:italic> alterations (10 exon deletions and five point mutations) were identified, including four novel mutations: Arg402Cys, Cys418Arg, IVS11‐3C&gt;G, and exon 8‐9‐10 deletion. Homozygous mutations, two heterozygous mutations, and a single heterozygous mutation were found in 8, 6, and 1 patient, respectively. Heterozygous exon deletions represented 28% of the mutant alleles. The patients with <jats:italic>parkin</jats:italic> mutations showed significantly earlier onset, longer disease duration, more frequently symmetric onset, and slower disease progression than the patients without mutations, in agreement with previous studies. This study confirms the frequent involvement of <jats:italic>parkin</jats:italic> and the importance of genetic testing in the diagnostic work‐up of EOP. © 2004 Movement Disorder Society</jats:p>