Use this URL to cite or link to this record in EThOS: http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.647273
Title: Genetic and neuropathological study of primary and secondary dystonic syndromes
Author: Paudel, R.
ISNI:       0000 0004 5366 1160
Awarding Body: University College London (University of London)
Current Institution: University College London (University of London)
Date of Award: 2015
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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.
Supervisor: Not available Sponsor: Not available
Qualification Name: Thesis (Ph.D.) Qualification Level: Doctoral
EThOS ID: uk.bl.ethos.647273  DOI: Not available
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