publication . Doctoral thesis . 2016

Modeling neurodevelopment and cortical dysfunction in SPG11-linked hereditary spastic paraplegia using human induced pluripotent stem cells

Mishra, Himanshu Kumar;
Open Access English
  • Published: 01 Jan 2016
  • Country: Germany
Abstract
Hereditary spastic paraplegias (HSPs) are a heterogeneous group of inherited motor neuron diseases characterized by progressive spasticity and weakness of the lower limbs. Mutations in the Spastic Paraplegia Gene11 (SPG11), encoding spatacsin, cause the most frequent form of autosomal recessive HSP. SPG11 patients are clinically distinguishable from most other HSPs, by severe cortical atrophy and presence of a thin corpus callosum (TCC), associated with cognitive deficits. Partly due to lack of a relevant disease model, the distinct cellular and molecular mechanisms modulating these symptoms have not been deciphered so far. We generated induced pluripotent stem ...
Subjects
free text keywords: SPG11, neurodevelopment, iPSC, neurodegeneration, Naturwissenschaftliche Fakultät, ddc:570, ddc:610
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