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A 23 year old man presented with slowly progressive ataxia, slurred speech and nystagmus over 10 years.
(Left) AxialT2 weighted MRI; (Middle) Sagittal T1weighted MRI; (Right) Coronal T1 weighted MRI. Note the severe atrophy of the cerebellum and pons. This atrophy then results in compensatory dilatation of the fourth ventricle and surrounding cisterns.This genetic condition, once termed olivopontocerebellar atrophy (OPCA) is now included under the spinocerebellar ataxias (SCA), a large group of inherited disorders characterized by progressive ataxia and brainstem signs. DNA analysis in this patient demonstrated SCA Type 2. SCA Type 2 typically manifests itself with progressive gait and limb ataxia, dysarthria, and slow saccadic eye movements. Some patients may also develop ophthalmoparesis, extrapyramidal signs, areflexia, and cognitive dysfunctions. The SCA-2 mutation is an expansion of an unstable CAG repeat located in the ataxin-2 gene on chromosome 12q24.1.
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