A patient-derived neural stem cell model for hereditary spastic paraplegia

ABSTRACT: Hereditary Spastic Paraplegia (HSP) leads to progressive gait disturbances with lower limb muscle weakness and spasticity. Mutations in SPG4 are a major cause of autosomal-dominant HSP. Spastin, the protein encoded by SPG4, is a microtubule-severing protein and is enriched in the distal axon of corticospinal motor neurons which degenerate in HSP patients. How SPG4 mutations cause axon degeneration in patients is not understood. Multipotent neural stem cells, accessible from patient olfactory mucosa biopsies, provided a new patient-derived cell models for HSP. Olfactory neurosphere-derived cells were obtained from cohorts of HSP patients with, and without, mutations in SPG4 and from healthy controls. Patient cells had extensive changes in expression of cell cycle-related genes and in genes

ORGANISM(S): Homo sapiens

DISEASE(S): normal

SUBMITTER: Nicholas Matigian 

PROVIDER: E-TABM-1180 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress