Clinical and molecular characterization of autosomal recessive forms of hereditary spastic paraplegia with cognitive deficits

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. Based on the mode of inheritance (autosomal recessive, autosomal dominant and X-linked) and the linkage data, to date, 36 distinct genetic loci have been described, 15 genes could be identified. The aim of this study is the further clinical and molecular genetic characterization of families with autosomal recessive complicated HSP (AR-HSP) with thin corpus callosum (TCC) and/or cognitive deficits.