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Mutation analysis of the parkin gene in Russian families with autosomal recessive juvenile parkinsonism

Authors

  • Sergei N. Illarioshkin MD,

    Corresponding author
    1. Department of Neurogenetics, Institute of Neurology, Russian Academy of Medical Sciences, Moscow, Russia
    • Department of Neurogenetics, Institute of Neurology, Russian Academy of Medical Sciences, Volokolamskoye Shosse 80, Moscow 123367 Russia
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  • Magali Periquet MS,

    1. Institut National de la Santé et de la Recherche Médicale (INSERM) U289, Paris, France
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  • Nina Rawal MS,

    1. Institut National de la Santé et de la Recherche Médicale (INSERM) U289, Paris, France
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  • Christoph B. Lücking MD,

    1. Institut National de la Santé et de la Recherche Médicale (INSERM) U289, Paris, France
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  • Tatyana B. Zagorovskaya MD,

    1. Department of Neurogenetics, Institute of Neurology, Russian Academy of Medical Sciences, Moscow, Russia
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  • Pyotr A. Slominsky PhD,

    1. Department of Molecular Basis of Human Genetics, Institute of Molecular Genetics, Russian Academy of Sciences, Moscow, Russia
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  • Olga V. Miloserdova MS,

    1. Department of Molecular Basis of Human Genetics, Institute of Molecular Genetics, Russian Academy of Sciences, Moscow, Russia
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  • Elena D. Markova MD,

    1. Department of Neurogenetics, Institute of Neurology, Russian Academy of Medical Sciences, Moscow, Russia
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  • Svetlana A. Limborska PhD,

    1. Department of Molecular Basis of Human Genetics, Institute of Molecular Genetics, Russian Academy of Sciences, Moscow, Russia
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  • Irina A. Ivanova-Smolenskaya MD,

    1. Department of Neurogenetics, Institute of Neurology, Russian Academy of Medical Sciences, Moscow, Russia
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  • Alexis Brice MD

    1. Institut National de la Santé et de la Recherche Médicale (INSERM) U289, Paris, France
    2. Département de Génétique, Cytogénétique et Embryologie, Groupe Hospitalier Pitié-Salpétrière, AP-HP, Paris, France
    3. Fédération de Neurologie, Groupe Hospitalier Pitié-Salpétrière, AP-HP, Paris, France
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Abstract

Autosomal recessive juvenile parkinsonism (AR-JP) is a form of hereditary parkinsonism characterized by variable clinical presentations and caused by mutations in a novel gene, parkin, on chromosome 6q25.2–27. Until now, no Russian cases of parkin-associated AR-JP have been reported on. We recruited 16 patients from 11 Russian families with dopa-responsive movement disorders according to the following criteria: 1) family history compatible with autosomal recessive inheritance; 2) onset of symptoms at ≤30 years of age; and 3) the lack of mutations in the GTP cyclohydrolase I gene (in sporadic cases). Mutation screening of the parkin gene was carried out by a semiquantitative PCR assay and direct sequencing of the coding region. Six different parkin mutations (both deletions and point mutations) were identified in the index cases from four families, including a novel point mutation in the donor splice site (IVS1+1G→A). The majority of our parkin-associated cases were characterized by early-onset dopa-responsive parkinsonism with benign course and slow progression (5 patients from two families have been followed for as long as 18–36 years), and 1 patient had a phenotype of dopa-responsive dystonia. This first description of Russian patients with AR-JP and molecularly proven parkin mutations confirms the widespread occurrence of this polymorphic hereditary extrapyramidal disorder. © 2003 Movement Disorder Society

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