[Distribution of dominant hereditary ataxias and Friedreich's ataxia in the Spanish population].
BACKGROUND
To establish the distribution of the different forms of dominant ataxias and Friedreich ataxia in Spanish population.


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.
Mayo Cabrero
D
D
Departamento de Genética, Fundación Jiménez Díaz, Madrid. gmolecular@fjd.es
Hernández Cristóbal
J
J
Cantarero Duque
S
S
Martínez Delgado
B
B
Urioste Azcorra
M
M
Robledo Batanero
M
M
García-Ruiz Espiga
P
P
Benítez Ortiz
J
J
D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000368:Aged; D000369:Aged, 80 and over; D001483:Base Sequence; D002352:Carrier Proteins / Q000235:genetics; D002524:Cerebellar Ataxia / Q000453:epidemiology / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D005260:Female; D005621:Friedreich Ataxia / Q000453:epidemiology / Q000235:genetics*; D020234:Gait Ataxia / Q000453:epidemiology / Q000235:genetics; D005799:Genes, Dominant; D005808:Genes, Recessive; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D013030:Spain / Q000453:epidemiology; D020754:Spinocerebellar Ataxias / Q000453:epidemiology / Q000235:genetics*
D002352:Carrier Proteins; C017763:alpha-tocopherol transfer protein