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  • Title: A new mutation in the parkin gene in a patient with atypical autosomal recessive juvenile parkinsonism.
    Author: Muñoz E, Pastor P, Martí MJ, Oliva R, Tolosa E.
    Journal: Neurosci Lett; 2000 Jul 28; 289(1):66-8. PubMed ID: 10899410.
    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.
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