title: A new mutation in the parkin gene in a patient with atypical autosomal recessive juvenile parkinsonism.
abstract: We have investigated the presence of mutations in the parkin gene in patients with early-onset parkinsonism. Direct sequencing of the polymerase chain reaction (PCR) products showed a homozygous G deletion in the exon 7 (c.871delG) in one patient. This was a 38-year-old Moroccan woman with a history of parkinsonism of 18 years of duration. The disease appeared as an apparently sporadic case and was characterized by dystonia of the legs at onset and a rapid progression to severe generalized parkinsonism but with an excellent maintained response to dopamine agonists treatment. The deletion was a frameshift mutation resulting in a stop codon at position 297 which causes truncation of the parkin protein. Mutations in the parkin gene can be encountered in patients with an apparently sporadic early-onset parkinsonism, rapidly progressive course and marked and maintained response to dopamine agonists.
authors.affiliation: Parkinson's disease and Movement Disorders Unit, Neurology Service, institut Clínic Malalties Sistema Nerviós, Hospital Clínic i Universitari, University of Barcelona, Spain.
authors.forename: E
authors.initials: E
authors.lastname: Muñoz
authors.forename: P
authors.initials: P
authors.lastname: Pastor
authors.forename: M J
authors.initials: MJ
authors.lastname: Martí
authors.forename: R
authors.initials: R
authors.lastname: Oliva
authors.forename: E
authors.initials: E
authors.lastname: Tolosa
mesh_terms: D000328:Adult; D017398:Alternative Splicing / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007438:Introns / Q000235:genetics; D008025:Ligases; D019656:Loss of Heterozygosity; D009154:Mutation / Q000235:genetics*; D010300:Parkinson Disease / Q000235:genetics*; D010375:Pedigree; D011506:Proteins / Q000235:genetics*; D044767:Ubiquitin-Protein Ligases
chemical_list: D011506:Proteins; D044767:Ubiquitin-Protein Ligases; C111567:parkin protein; D008025:Ligases