Spinal muscular atrophy in Gypsies from Bulgaria and Hungary

Albena Jordanova, V. Karcagi, I. Kremensky, I. Litvinenko, M. Uzunova, I. Turnev, B. Ishpekova, A. Herzegfalvi, B. Zaharova, I. Simeonova, V. Gergelcheva, I. Kutzarova, D. Konstantinova, T. Ivanova, I. Ivanov, M. Veleva, S. Tomov, M. Peteva, L. Kalaydjieva

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Spinal Muscular Atrophy is one of the most common autosomal-recessive disorders among Caucasians. It is caused by mutations in the telomeric survival motor neuron (SMN1) gene. We performed a genotype-phenotype correlation study in affected Gypsy subjects from Bulgaria and Hungary, where mild and severe spinal muscular atrophy forms were observed. We found three different gene defects, which in different combinations cause disease of varying severity. Our data support the concept that, although not protective against disease development, the SMN2 gene acts as a modifier in a dose dependant manner. However, the differences in severity observed among patients sharing identical gene defects suggest that additional factors should contribute to the clinical phenotype.

Original languageEnglish
Pages (from-to)226-230
Number of pages5
JournalActa Myologica
Volume20
Issue numberDEC.
Publication statusPublished - Dec 1 2001

Keywords

  • Gypsies
  • Spinal muscular atrophy
  • Survival motor neuron

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

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  • Cite this

    Jordanova, A., Karcagi, V., Kremensky, I., Litvinenko, I., Uzunova, M., Turnev, I., Ishpekova, B., Herzegfalvi, A., Zaharova, B., Simeonova, I., Gergelcheva, V., Kutzarova, I., Konstantinova, D., Ivanova, T., Ivanov, I., Veleva, M., Tomov, S., Peteva, M., & Kalaydjieva, L. (2001). Spinal muscular atrophy in Gypsies from Bulgaria and Hungary. Acta Myologica, 20(DEC.), 226-230.