Paudel, R;
(2015)
Genetic and neuropathological study of primary and secondary dystonic syndromes.
Doctoral thesis , UCL (University College London).
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Abstract
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.
| Type: | Thesis (Doctoral) |
|---|---|
| Title: | Genetic and neuropathological study of primary and secondary dystonic syndromes |
| Open access status: | An open access version is available from UCL Discovery |
| Language: | English |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases |
| URI: | https://discovery.ucl.ac.uk/id/eprint/1463442 |
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