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ISSN 0028-3851 (Print)

2006, Number 4

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Rev Neurol Neurocir Psiquiat 2006; 39 (4)

Spinocerebellar tipe 7 ataxia with bilateral macular atrophy

Miranda NG, Carrasco VH

Language: Spanish
References: 7
Page: 148-151
PDF size: 102.74 Kb.


ABSTRACT

Introduction. The autosomal dominant cerebellar ataxias are a heterogeneous group of neurodegenerative disorders affecting the cerebellum, spinal cord, brainstem and can include retina and optic nerve.
Case report. A 30-years old female patient with chronic progresive, bilateral loss of visual acuity, with gait disturbances and blurred speech. The patient was examined and we found supranuclear palsy, macular bilateral atrophy and bilateral cerebellar syndrome. The magnetic resonance shows important cerebellar atrophy, and low diameter of brainstem. The fluorangiography shows retinal pigmentary epithelium atrophy on the macular area in both eyes.
Discussion. The autosomal dominant cerebellar ataxias are rare disorders, just visually with a excellent phisycal examination, and needs a comprobation with the genetical study to ataxias.


REFERENCES

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