title: The autosomal dominant spinocerebellar ataxias: emerging mechanistic themes suggest pervasive Purkinje cell vulnerability.
abstract: The spinocerebellar ataxias are a genetically heterogeneous group of disorders with clinically overlapping phenotypes arising from Purkinje cell degeneration, cerebellar atrophy and varying degrees of degeneration of other grey matter regions. For 22 of the 32 subtypes, a genetic cause has been identified. While recurring themes are emerging, there is no clear correlation between the clinical phenotype or penetrance, the type of genetic defect or the category of the disease mechanism, or the neuronal types involved beyond Purkinje cells. These phenomena suggest that cerebellar Purkinje cells may be a uniquely vulnerable neuronal cell type, more susceptible to a wider variety of genetic/cellular insults than most other neuron types.
authors.affiliation: Department of Vascular Surgery, McGaw Medical Center of Northwestern University, Chicago, Illinois, USA.
authors.forename: Katherine E
authors.initials: KE
authors.lastname: Hekman
authors.affiliation: Department of Neurology, The University of Chicago, Chicago, Illinois, USA.
authors.forename: Christopher M
authors.initials: CM
authors.lastname: Gomez
mesh_terms: D042622:DNA Repeat Expansion / Q000235:genetics / Q000502:physiology; D030541:Databases, Genetic; D006801:Humans; D008954:Models, Biological; D009474:Neurons / Q000473:pathology; D011689:Purkinje Cells / Q000473:pathology* / Q000502:physiology; D020754:Spinocerebellar Ataxias / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology
keywords: Cerebellar Ataxia; Cerebellar Degeneration; Cerebellar Disease; Genetics; Medicine