T B Zagorovskaya

Publications (4)11.06 Total impact

• Article: Lack of α-synuclein gene mutations in families with autosomal dominant Parkinson's disease in Russia

  S.N. Illarioshkin, I.A. Ivanova-Smolenskaya, E.D. Markova, T.B. Zagorovskaya, A. Brice
  Journal of Neurology 04/2012; 247(12):968-969. · 3.47 Impact Factor
• Article: A common leucine-rich repeat kinase 2 gene mutation in familial and sporadic Parkinson's disease in Russia.

  S N Illarioshkin, M I Shadrina, P A Slominsky, E V Bespalova, T B Zagorovskaya, G Kh Bagyeva, E D Markova, S A Limborska, I A Ivanova-Smolenskaya
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  ABSTRACT: A PARK8 form of Parkinson's disease (PD) is caused by a novel gene, leucine-rich repeat kinase 2 (LRRK2), and a single mutation G2019S was found in a proportion of LRRK2-associated cases of diverse ethnic origins. We performed the LRRK2 G2019S mutation analysis in 304 Russian patients with PD, including 291 sporadic and 13 autosomal dominant cases. The frequency of the LRRK2 G2019S was 0.7% amongst the sporadic patients (2/291) and 7.7% amongst familial PD (1/13). The mutation was also found in three unaffected relatives and absent in 700 control chromosomes. One patient carrying the LRRK2 G2019S was found earlier to have an additional mutation, a heterozygous duplication of exon 5 of the parkin gene. All patients carrying the LRRK2 G2019S exhibited typical levodopa-responsive parkinsonism, and severe levodopa-induced dyskinesia was observed in the patient carrying the LRRK2 and parkin mutations. There was notable variability in ages of the disease onset in G2019S carriers not explained by APOE genotypes. Two subsets of G2019S-positive patients had different PARK8 haplotypes suggesting that the LRRK2 G2019S in Russian patients had arisen independently on different chromosomes. Identification of common LRRK2 mutations in some PD patients without an overt family history has notable implications for genetic counseling.
  European Journal of Neurology 05/2007; 14(4):413-7. · 3.69 Impact Factor
• Article: Molecular Genetic Analysis of Hereditary Neurodegenerative Diseases

  S. N. Illarioshkin, I. A. Ivanova-Smolenskaya, E. D. Markova, M. I. Shadrina, S. A. Klyushnikov, T. B. Zagorovskaya, N. I. Miklina, P. A. Slominsky, S. A. Limborska
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  ABSTRACT: The review summarizes the results of a decade of molecular genetic studies of several high-incidence hereditary neurodegenerative diseases, including primary parkinsonism, various forms of hereditary dystonia and ataxia, polyglutamine disorders, hepatolenticular degeneration, essential tremor, etc. Various relevant mutations were studied. The character and frequencies of particular mutations and the corresponding genetic disorders were established for the Russian population. Particular genotypes were associated with various clinical variants of the diseases. Genetic loci were identified for several unique hereditary diseases of the nervous system (X-linked cerebellar hypoplasia, an atypical form of autosomal recessive muscular dystrophy, etc.). Nosological positions of the relevant clinical forms were clarified on the basis of the molecular genetic data. Protocols were developed for direct or indirect DNA diagnostics of the diseases under study to improve medical genetic counseling and prevention of new disease cases in affected families.
  Russian Journal of Genetics 01/2004; 40(6):663-671. · 0.43 Impact Factor
• Article: Lack of alpha-synuclein gene mutations in families with autosomal dominant Parkinson's disease in Russia.

  S N Illarioshkin, I A Ivanova-Smolenskaya, E D Markova, T B Zagorovskaya, A Brice
  Journal of Neurology 01/2001; 247(12):968-9. · 3.47 Impact Factor