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Reply: A single strand that links multiple neuropathologies in human disease

John J. Reynolds, Grant S. Stewart
DOI: http://dx.doi.org/10.1093/brain/awt198 e267 First published online: 5 August 2013


Sir, We are grateful for the opportunity to respond to the correspondence from Oegema et al. (2013) and we thank the authors for their interest in our recent review article discussing the three known neurological disorders associated with defective single strand break repair, namely ataxia oculomotor apraxia 1 (AOA1), spinocerebellar ataxia with neuronal neuropathy 1 (SCAN1) and microcephaly, early-onset, intractable seizures and developmental delay (MCSZ) (Reynolds and Stewart, 2013a). A focus of our review was to highlight the different neurological pathologies associated with these three different DNA repair deficiency disorders and to discuss possible molecular causes underlying why patients with AOA1 and SCAN1 present with progressive cerebellar degeneration (Date et al., 2001; Moreira et al., 2001; Takashima et al., 2002), whereas those with MCSZ primarily exhibit microcephaly without any evidence of neuronal degeneration (Shen et al., 2010). We hypothesized that the differential neuropathologies could be determined …

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