A new mutation in the parkin gene in a patient with atypical autosomal recessive juvenile parkinsonism

We have investigated the presence of mutations in the parkin gene in patien ts with early-onset parkinsonism. Direct sequencing of the polymerase chain reaction (PCR) products showed a homozygous G deletion in the exon 7 (c.87 1delG) 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 appare ntly sporadic case and was characterized by dystonia of the legs at onset a nd a rapid progression to severe generalized parkinsonism but with an excel lent 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 enco untered in patients with an apparently sporadic early-onset parkinsonism, r apidly progressive course and marked and maintained response to dopamine ag onists. (C) 2000 Elsevier Science Ireland Ltd. All rights reserved.