[SCA-7. Cone-rod dystrophy in the context of an hereditary ataxia].
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.
Arnalich-Montiel
F
F
Servicio de Oftalmología, Unidad de Glaucoma y Neuro-oftalmología, Hospital Ramón y Cajal, Madrid, España. arnalich@hotmail.com
Rebolleda
G
G
Muñoz-Negrete
F J
FJ
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
C000593829:ATXN7 protein, human; D000067719:Ataxin-7; D009419:Nerve Tissue Proteins