Spinocerebellar Ataxia with Axonal Neuropathy (SCAN1): A Disorder of Nuclear and Mitochondrial DNA Repair

Abstract

Spinocerebellar ataxias (SCAs) are a group of progressive and irreversible neurological diseases affecting gait and movement coordination. Many result from cerebellar degeneration or the impairment of a portion of the neuroaxis that contributes to cerebellar inflow or outflow (Embirucu et al., 2009). In the cerebellum, the dysfunction and death of Purkinje cells, granule cells or interneurons can cause SCA. Molecular mechanisms for this pathology include polyglutamine tract expansion (SCA1, SCA2, SCA3), flawed basal transcription (SCA17) and defective DNA repair (ataxia telangiectasia, spinocerebellar ataxia with axonal neuropathy (SCAN1) and ataxia with oculomotor apraxia type 1) (Hire et al., 2010).