[Spinocerebellar ataxia type 2 associated to pigmentary retinitis].
BACKGROUND
Ocular disorders are useful in the characterisation of the different types of spinocerebellar ataxias (SCA); pigmentary retinitis is an alteration that is specifically associated to SCA type 7 and is characterised by night blindness, sensitivity to glare and progressive narrowing of the visual field.


METHODS
A 34-year-old woman with clinical symptoms of progressive ataxia and visual impairment secondary to pigmentary retinitis. The patient had a personal history with an autosomal dominant pattern of a similar disorder in her father and paternal grandmother. In the genetic study she presented a triplet expansion in the SCA type 2 gene. CONCLUSIONS; Although pigmentary retinitis belongs to the SCA type 7 phenotype, our patient presented this retinal disorder, as in other cases of SCA type 2. A genetic study for SCA type 2 must therefore be conducted in patients with a degenerative ataxic clinical picture and who present evidence of pigmentary retinitis.
Jiménez-Caballero
Pedro Enrique
PE
Servicio de Neurología, Hospital Virgen de la Salud, 45005 Toledo, España. pjimenez1010j@yahoo.es
Serviá
Mónica
M
D000328:Adult; D000067719:Ataxin-7; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D012173:Retinitis / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D020754:Spinocerebellar Ataxias / Q000235:genetics / Q000503:physiopathology
C000593829:ATXN7 protein, human; D000067719:Ataxin-7; D009419:Nerve Tissue Proteins