{"product_id":"exclusion-of-genetic-linkage-to-the-spax2-locus-in-cases-of-ataxia-9786209533358","title":"Exclusion of genetic linkage to the SPAX2 locus in cases of ataxia","description":"\u003cp\u003e • Author(s): Emmanuelle Poirier St-Georges\u003cbr\u003e • Publisher: Our Knowledge Publishing\u003cbr\u003e • Publisher Imprint: Our Knowledge Publishing\u003cbr\u003e • BISAC: Life Sciences - Genetics \u0026amp; Genomics\u003c\/p\u003e\u003cp\u003eHereditary 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.\u003c\/p\u003e","brand":"Our Knowledge Publishing","offers":[{"title":"Paperback","offer_id":47570870337687,"sku":"9786209533358","price":4235.0,"currency_code":"INR","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0666\/3471\/1191\/files\/9786209533358.webp?v=1774884823","url":"https:\/\/atlanticbooks.com\/products\/exclusion-of-genetic-linkage-to-the-spax2-locus-in-cases-of-ataxia-9786209533358","provider":"Atlantic Books","version":"1.0","type":"link"}