Abstract
Aims: Hereditary spastic paraplegias (HSPs) comprise a clinically and genetically heterogeneous group of neurodegenerative disorders, resulting in progressive spasticity of the lower limbs. In contrast to “pure HSP“, additional clinical features are present in patients with complicated HSP. We have recently characterized in detail the phenotype of two German pedigrees with AR-HSP with thin corpus callosum (TCC; Winner et al. 2004 and 2006). For 4 large consanguineous Turkish families we could narrow down the SPG11 minimal critical region to a 2,93 cM interval with a maximum LOD score of 11,84 (Oelmez et al., 2006). Recently, KIAA1840 could be identified as the Spatacsin gene, associated with SPG11 (Stevanin et al., 2007).
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