title: Induced pluripotent stem cell technology for modelling and therapy of cerebellar ataxia.
abstract: Induced pluripotent stem cell (iPSC) technology has emerged as an important tool in understanding, and potentially reversing, disease pathology. This is particularly true in the case of neurodegenerative diseases, in which the affected cell types are not readily accessible for study. Since the first descriptions of iPSC-based disease modelling, considerable advances have been made in understanding the aetiology and progression of a diverse array of neurodegenerative conditions, including Parkinson's disease and Alzheimer's disease. To date, however, relatively few studies have succeeded in using iPSCs to model the neurodegeneration observed in cerebellar ataxia. Given the distinct neurodevelopmental phenotypes associated with certain types of ataxia, iPSC-based models are likely to provide significant insights, not only into disease progression, but also to the development of early-intervention therapies. In this review, we describe the existing iPSC-based disease models of this heterogeneous group of conditions and explore the challenges associated with generating cerebellar neurons from iPSCs, which have thus far hindered the expansion of this research.
authors.affiliation: Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK.
authors.forename: Lauren M
authors.identifier: http://orcid.org/0000-0001-6712-7864
authors.initials: LM
authors.lastname: Watson
authors.affiliation: Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK.
authors.forename: Maggie M K
authors.initials: MM
authors.lastname: Wong
authors.affiliation: Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK esther.becker@dpag.ox.ac.uk.
authors.forename: Esther B E
authors.identifier: http://orcid.org/0000-0002-5238-4902
authors.initials: EB
authors.lastname: Becker
mesh_terms: D000818:Animals; D018929:Cell Culture Techniques; D002454:Cell Differentiation; D064987:Cell- and Tissue-Based Therapy / Q000379:methods*; D002524:Cerebellar Ataxia / Q000235:genetics / Q000473:pathology*; D002531:Cerebellum / Q000196:embryology / Q000473:pathology; D004195:Disease Models, Animal; D005818:Genetic Engineering; D057026:Induced Pluripotent Stem Cells / Q000166:cytology* / Q000637:transplantation; D019636:Neurodegenerative Diseases / Q000473:pathology
keywords: ataxia; cerebellum; induced pluripotent stem cells; neurodegenerative disease