Molecular Differential Diagnosis of HSP with Thin Corpus Callosum

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Hereditary spastic paraplegia (HSP) with thin corpus callosum (CC) is a rare neurodegenerative disease, classified as a complicated form of spastic paraplegia. Some patients with HSP with thin CC have previously been described with a linkage to chromosome 15q13–15. However, a thin CC has been described in other genetic forms of HSP as well. We report about the clinical, structural, and functional follow-up of patients with HSP and thin CC. Our data show that progressive axonal degeneration occurs in the cortico-cortical projections, the cortico-spinal tract and peripheral nerves in HSP. Moreover we will discuss genetic differential diagnosis of HSP with thin CC. (Supported by Tom-Wahlig-Stiftung, Jena).