title: [SCA-7. Cone-rod dystrophy in the context of an hereditary ataxia].
abstract: METHODS
  A 21-year-old male presented with bilateral loss of visual acuity within the last year, and cerebellar ataxia since childhood. Two members of his family had a similar disorder. Examination showed bilateral central scotomas, as well as an electroretinogram pattern and optic coherence tomography images consistent with cone-rod dystrophy. Molecular analysis by PCR amplification and genotyping of the SCA7 gene established the diagnosis of SCA-7.
  
  
  CONCLUSIONS
  SCA-7 is a polyglutamine expansion disorder and the only spinocerebellar ataxia that shows a cone-rod dystrophy phenotype, which probably results from interference with the action of specific cone-rod genes.
authors.affiliation: Servicio de Oftalmología, Unidad de Glaucoma y Neuro-oftalmología, Hospital Ramón y Cajal, Madrid, España. arnalich@hotmail.com
authors.forename: F
authors.initials: F
authors.lastname: Arnalich-Montiel
authors.forename: G
authors.initials: G
authors.lastname: Rebolleda
authors.forename: F J
authors.initials: FJ
authors.lastname: Muñoz-Negrete
mesh_terms: D000328:Adult; D000067719:Ataxin-7; D006801:Humans; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics; D012174:Retinitis Pigmentosa / Q000209:etiology*; D013132:Spinocerebellar Degenerations / Q000150:complications* / Q000235:genetics
chemical_list: C000593829:ATXN7 protein, human; D000067719:Ataxin-7; D009419:Nerve Tissue Proteins