Librería Samer Atenea
Librería Aciertas (Toledo)
Kálamo Books
Librería Perelló (Valencia)
Librería Elías (Asturias)
Donde los libros
Librería Kolima (Madrid)
Librería Proteo (Málaga)
Hereditary ataxias are neurodegenerative disorders that cause ataxia as a primary symptom, i.e., loss of coordination of voluntary movements, impaired sense of balance, and motor impairment. They form a clinically and genetically heterogeneous group. As a result, there are many classifications based on different criteria. However, the current consensus is that the mode of transmission is the primary criterion for classification. We recruited eight French-Canadian families from various regions of Quebec with a more or less close genetic link to Acadia, in which we observed ten cases of a relatively mild form of autosomal recessive spastic ataxia that resisted analysis of known ataxia genes. We hypothesized that we were dealing with a new form of ataxia with a founder effect for the French-Canadian population. In order to identify the mutated gene responsible for this ataxia, genomic screening of SNP markers for the recruited individuals was performed. Then, through homozygosity mapping, a 2.5 Mb region was identified on chromosome 17p13.
