Subject(s)
Botulism/diagnosis , Clostridium botulinum type B/isolation & purification , Food Contamination , Food Microbiology , Vegetables/microbiology , Aged , Aged, 80 and over , Animals , Biological Assay , Botulism/complications , Botulism/microbiology , Botulism/therapy , Combined Modality Therapy , Cranial Nerve Diseases/etiology , Diagnosis, Differential , Diplopia/etiology , Fatal Outcome , Feces/microbiology , Female , Food Preservation/methods , Humans , Male , Mice , Primary Dysautonomias/etiology , Respiratory Insufficiency/etiology , Respiratory Insufficiency/therapyABSTRACT
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.
