[Distribution of dominant hereditary ataxias and Friedreich's ataxia in the Spanish population].

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.

• Authors: D Mayo Cabrero, J Hernández Cristóbal, S Cantarero Duque, B Martínez Delgado, M Urioste Azcorra, M Robledo Batanero, P García-Ruiz Espiga, J Benítez Ortiz
• Journal: Medicina clinica (Med Clin (Barc)) Vol. 115 Issue 4 Pg. 121-5 (Jun 24 2000) ISSN: 0025-7753 [Print] Spain
• Vernacular Title: Distribución de ataxias hereditarias dominantes y ataxia de Friedreich en la población española.
• PMID: 10996881 (Publication Type: Comparative Study, English Abstract, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Carrier Proteins
• alpha-tocopherol transfer protein

Topics

• Adolescent
• Adult
• Age Factors
• Aged
• Aged, 80 and over
• Base Sequence
• Carrier Proteins (genetics)
• Cerebellar Ataxia (epidemiology, genetics)
• Child
• Child, Preschool
• Female
• Friedreich Ataxia (epidemiology, genetics)
• Gait Ataxia (epidemiology, genetics)
• Genes, Dominant
• Genes, Recessive
• Heterozygote
• Humans
• Male
• Middle Aged
• Molecular Sequence Data
• Mutation
• Pedigree
• Polymerase Chain Reaction
• Spain (epidemiology)
• Spinocerebellar Ataxias (epidemiology, genetics)