| Autor: |
Illarioshkin, Sergei N., Periquet, Magali, Rawal, Nina, Lücking, Christoph B., Zagorovskaya, Tatyana B., Slominsky, Pyotr A., Miloserdova, Olga V., Markova, Elena D., Limborska, Svetlana A., Ivanova-Smolenskaya, Irina A., Brice, Alexis |
| Zdroj: |
Movement Disorders; Aug2003, Vol. 18 Issue 8, p914-919, 6p |
| Abstrakt: |
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 [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
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