Article
A new phenotype linked to SPG27 and refinement of the critical region on chromosome.
Journal of neurology - 1 Jun 2006
Ribai Pascale, Stevanin Giovanni, Bouslam Naima, Pontier Bénédicte, Nelson Isabelle, Fontaine Bertrand, Dussert Christel, Charon Céline, Durr Alexandra, Brice Alexis
Abstract excerpt
Hereditary spastic paraplegias are genetically and clinically heterogeneous. Twenty-six loci have been identified to date. SPG27 was recently mapped to chromosome 10 in a single family with autosomal recessive hereditary spastic paraplegia (AR-HSP) and a pure phenotype. We describe a Tunisian family with a complicated form of AR-HSP also linked to SPG27. The parents are first cousins and 3 out of their 4 children...
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