These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: [Distribution of dominant hereditary ataxias and Friedreich's ataxia in the Spanish population].
    Author: Mayo Cabrero D, Hernández Cristóbal J, Cantarero Duque S, Martínez Delgado B, Urioste Azcorra M, Robledo Batanero M, García-Ruiz Espiga P, Benítez Ortiz J.
    Journal: Med Clin (Barc); 2000 Jun 24; 115(4):121-5. PubMed ID: 10996881.
    Abstract:
    BACKGROUND: To establish the distribution of the different forms of dominant ataxias and Friedreich ataxia in Spanish population. PATIENTS AND METHODS: We have performed a molecular study in 121 patients presenting ataxia as the first sign of neurodegenerative disease. In these patients, we have performed a molecular study of SCA 1, SCA 2, SCA 3, SCA 6, SCA 7, SCA 8, DRPLA, alpha-TTP (tocopherol transfer protein) and Friedreich's ataxia genes. RESULTS: The study showed that the Friedreich ataxia is the most frequent form representing 34.4% of the total of the hereditary ataxias. One patient presented mutation in alpha-TTP gene. Among the dominant forms SCA 3 was the most frequent (27.3%) followed by SCA 7 (16%), SCA 6 (9%) and SCA 2 (4.5%). We have not found mutations in SCA 1 and DRPLA genes. Two of 60 apparently sporadic cases presented mutations in the SCA 6 and SCA 8. CONCLUSIONS: The genetic analysis is the principal method to distinguish the different clinic forms of ataxia. We have not found mutations in 41.2% of dominant forms and in 43.3% of recessive forms. These results suggest the existence of new candidates genes.
    [Abstract] [Full Text] [Related] [New Search]