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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 

Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia.

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an inherited neurodegenerative disorder characterized by early-onset, spastic ataxia and peripheral neuropathy. It was originally described in an inbred population of Quebec and later in some other countries. We report a new missense SACS mutation (7848C>T) in a Spanish family whose phenotype is similar to that of the previously described ARSACS patients. 7848C>T is the first SACS mutation reported in Spain confirming worldwide distribution of the disease.[1]

References

  1. Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia. Criscuolo, C., Saccà, F., De Michele, G., Mancini, P., Combarros, O., Infante, J., Garcia, A., Banfi, S., Filla, A., Berciano, J. Mov. Disord. (2005) [Pubmed]
 
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