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Genetic and neuropathological study of primary and secondary dystonic syndromes

Paudel, R; (2015) Genetic and neuropathological study of primary and secondary dystonic syndromes. Doctoral thesis , UCL (University College London). Green open access

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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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