This thesis will examine monogenetic forms of primary dystonia related to TOR1A, THAP1 and GCH1 genes with a focus on genetic and neuropathological investigation. Further, this thesis discusses the neuropathology of genetic disorders under the neurodegeneration with brain iron accumulation (NB IA) spectrum , B eta - propeller protein associated neurodegeneration (B PAN ) and neuroacanthocytosis. The genetics of spinocerebellar ataxia 8 will be discussed. This thesis also discusses the possibility of a common pathology for the lysosomal storage disorders (LSDs) impinging on ceram ide pathway.
| Identifer | oai:union.ndltd.org:bl.uk/oai:ethos.bl.uk:647273 |
| Date | January 2015 |
| Creators | Paudel, R. |
| Publisher | University College London (University of London) |
| Source Sets | Ethos UK |
| Detected Language | English |
| Type | Electronic Thesis or Dissertation |
| Source | http://discovery.ucl.ac.uk/1463442/ |
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