期刊
JOURNAL OF CLINICAL NEUROSCIENCE
卷 17, 期 6, 页码 751-755出版社
ELSEVIER SCI LTD
DOI: 10.1016/j.jocn.2009.10.007
关键词
Neurodegeneration; Pathoanatomy; Purkinje cell; SCA6; Spinocerebellar ataxia; Synapse
资金
- National Science and Technology Pillar Program in the 11th Five-year Plan Period [2006BA105A07]
- National Science and Technology Development Program in the 10th Five-year Plan Period [2004BA720A03]
- National Natural Science Foundation of China [30971585, 30871354, 30971034]
Spinocerebellar ataxia type 6 (SCAB) is a late-onset, autosomal dominantly inherited ataxic disorder, and most previous clinical studies consider SCA6 to be a pure cerebellar ataxia. We carried out a detailed pathoanatomical study at autopsy of two patients, brother and sister, with genetically confirmed SCAB. The disease in both patients was early onset and short, which is atypical for SCA6. We observed severe neurodegeneration in the cerebellum, dentate nucleus and olivary nuclei. Both patients showed evidence of synaptic modification in the cerebellar cortex, which morphologically confirmed the existence of retrograde and anterograde trans-synaptic degeneration secondary to the cerebellar cortical lesion. Furthermore, our study shows for the first time that neurodegeneration in SCA6 occurs in the spinal cord. Finally, our postmortem study confirms that SCA6 is not a simple pure cerebellar disease, but a complex neurodegenerative condition in which many extracerebellar structures are involved. (C) 2009 Elsevier Ltd. All rights reserved.
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