Autosomal recessive spinocerebellar ataxia 20: Report of a new patient and review of literature
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- 作者：Anju Shukla<sup>asup> ; Priyanka Upadhyai<sup>asup> ; Jhanvi Shah<sup>asup> ; K. Neethukrishna<sup>asup> ; Stephanie Bielas<sup>bsup> ; K.M. Girisha<sup>asup><sup> ; sup><sup>girish.katta@manipal.edusup>
- 关键词：Autosomal recessive spinocerebellar ataxia 20 ; Hereditary ataxia ; SNX14 ; Autophagy ; Cerebellar atrophy
- 刊名：European Journal of Medical Genetics
- 出版年：2017
- 出版时间：February 2017
- 年：2017
- 卷：60
- 期：2
- 页码：118-123
- 全文大小：1226 K
- 卷排序：60
文摘
Inherited ataxias are an extremely heterogeneous group of disorders. Autosomal recessive spinocerebellar ataxia 20 (SCAR20) is a recently described disorder characterized by intellectual disability, ataxia, coarse facial features, progressive loss of Purkinje cells in the cerebellum and often hearing loss and skeletal abnormalities. Mutations in the gene SNX14, which plays an important role in autophagy, have been found to cause SCAR20. The unique clinical findings of progressive coarsening of facial features makes the clinical phenotype recognizable among the various hereditary ataxias. Here we report on a child with a novel missense mutation in the SNX14 gene that appears to be debilitating for protein conformation, function and review the previously reported cases from 15 families.