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Article

Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients' neurons

30 Dec 2013

Abstract excerpt

The hereditary spastic paraplegias (HSPs) are a heterogeneous group of motorneuron diseases characterized by progressive spasticity and paresis of the lower limbs. Mutations in Spastic Gait 4 (SPG4), encoding spastin, are the most frequent cause of HSP. To understand how mutations in SPG4 affect human neurons, we generated human induced pluripotent stem cells (hiPSCs) from fibroblasts of two patients carrying a...

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PMID: 24381312
DOI: 10.1093/hmg/ddt644

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