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  • Title: [Neuropathological study of autosomal dominant ataxia linked to loci on chromosome 6p (SCA 1)].
    Author: Hamada K, Fukazawa T, Yanagihara T, Hamada T, Yoshida K, Sasaki H, Tashiro K.
    Journal: No To Shinkei; 1993 Nov; 45(11):1045-9. PubMed ID: 8297664.
    Abstract:
    We reported an autopsy case of hereditary OPCA genetically proved to be SCA 1. Clinically, he showed cerebellar ataxia from beginning to the end stage, and was characterized by slow eye movement with external ophthalmoplegia, pyramidal tract signs, generalized amyotrophy including facial muscle, mild bulbar paresis, mild dementia, and urinary disturbance. Neuropathologically, the degeneration and loss of neurons with gliosis were seen in the Purkinje layer, dentate nucleus of the cerebellum, inferior Olive nucleus, motor nucleus of cranial nerve, anterior horn of the spinal cord, and column of the Clarke. And the myelinpallor was revealed in the connecting nerve fiber of these lesions, posterior column and spinocerebellar tract of the spinal cord.
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