title: Autosomal recessive spinocerebellar ataxia 20: Report of a new patient and review of literature.
abstract: 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.
authors.affiliation: Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.
authors.forename: Anju
authors.initials: A
authors.lastname: Shukla
authors.affiliation: Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.
authors.forename: Priyanka
authors.initials: P
authors.lastname: Upadhyai
authors.affiliation: Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.
authors.forename: Jhanvi
authors.initials: J
authors.lastname: Shah
authors.affiliation: Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.
authors.forename: K
authors.initials: K
authors.lastname: Neethukrishna
authors.affiliation: Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA.
authors.forename: Stephanie
authors.initials: S
authors.lastname: Bielas
authors.affiliation: Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India. Electronic address: girish.katta@manipal.edu.
authors.forename: K M
authors.initials: KM
authors.lastname: Girisha
mesh_terms: D001343:Autophagy / Q000235:genetics; D002531:Cerebellum / Q000503:physiopathology*; D002648:Child; D005260:Female; D006801:Humans; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D011689:Purkinje Cells / Q000473:pathology*; D058305:Sorting Nexins / Q000235:genetics*; D020754:Spinocerebellar Ataxias / Q000235:genetics* / Q000503:physiopathology
chemical_list: C000594709:SNX14 protein, human; D058305:Sorting Nexins
keywords: Autophagy; Autosomal recessive spinocerebellar ataxia 20; Cerebellar atrophy; Hereditary ataxia; SNX14