Assuntos
Síndrome de Isaacs , Síndromes Paraneoplásicas , Neoplasias da Glândula Tireoide , Idoso , Diagnóstico Diferencial , Feminino , Humanos , Síndrome de Isaacs/patologia , Síndrome de Isaacs/fisiopatologia , Síndromes Paraneoplásicas/patologia , Síndromes Paraneoplásicas/fisiopatologia , Neoplasias da Glândula Tireoide/patologia , Neoplasias da Glândula Tireoide/fisiopatologiaRESUMO
No disponible
Assuntos
Humanos , Feminino , Idoso , Síndrome de Isaacs/complicações , Adenoma Oxífilo/complicações , Neoplasias da Glândula Tireoide/complicações , Cãibra Muscular/etiologiaRESUMO
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.