Use this URL to cite or link to this record in EThOS:
Title: The genetic and pathological correlations of ataxic disorders
Author: Li, M. Y.
Awarding Body: University College London (University of London)
Current Institution: University College London (University of London)
Date of Award: 2013
Availability of Full Text:
Access from EThOS:
Full text unavailable from EThOS. Please try the link below.
Access from Institution:
This thesis will examine several pure and complex ataxic conditions with a focus on the genetic and neuropathological characterisation of these disorders. These disorders include Hallervorden Spatz syndrome (HSS), infantile neuroaxonal dystrophy (iNAD) both disorders are part of the neurodegeneration with brain iron accumulation (NBIA) spectrum. Mutations in the pantothenate kinase 2 (PANK2) and phopholipase A2 group 6 (PLA2G6) genes contribute to these disorders, respectively. The latter half of the thesis discusses the movement disorders known as the spinocerebellar ataxias (SCAs) with a focus on SCA11 and SCA15. Mutant mouse models of SCA11 and SCA15 with mutations in the tau tubulin kinase 2 (TTBK2) and inositol 1,4,5-triphosphate type 1 receptor (ITPR1) resepectively, were pathologicaly characterised. Each disorder will be discussed in the introductory chapter and an overall summary conclusion at the end.
Supervisor: Not available Sponsor: Not available
Qualification Name: Thesis (Ph.D.) Qualification Level: Doctoral
EThOS ID:  DOI: Not available