Autosomal recessive spinocerebellar ataxia‐20 due to a novel SNX14 variant in an Indian girl

  title={Autosomal recessive spinocerebellar ataxia‐20 due to a novel SNX14 variant in an Indian girl},
  author={Haseena Sait and Amita Moirangthem and Vinita Agrawal and Shubha R. Phadke},
  journal={American Journal of Medical Genetics Part A},
  pages={1909 - 1914}
Autosomal recessive spinocerebellar ataxia‐20 is a rare disorder having distinctive coarse facies in addition to intellectual disability and cerebellar ataxia, with less than 35 cases reported worldwide. It is caused by biallelic variants in the SNX14 gene and is classified under the group of autophagy disorders. We report a 9‐year‐old girl who presented with classic clinical features of autosomal recessive spinocerebellar ataxia‐20 and cerebellar atrophy on magnetic resonance imaging of brain… 


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The authors would like to apologize for the following omissions: the following reference should have been included in the reference list: Ref. 92, references 92 and 92.