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Hereditary Spastic Paraplegia with Thin Corpus Callosum and SPG 11 Gene Mutation  

Chang, YoungHee (Department of Neurology, Seoul National University College of Medicine, Seoul National University Bundang Hospital)
Baek, Min Jae (Department of Neurology, Seoul National University College of Medicine, Seoul National University Bundang Hospital)
Kim, SangYun (Department of Neurology, Seoul National University College of Medicine, Seoul National University Bundang Hospital)
Publication Information
Dementia and Neurocognitive Disorders / v.10, no.1, 2011 , pp. 37-40 More about this Journal
Abstract
Hereditary spastic paraplegia (HSP) with thin corpus callosum (TCC) is an autosomal recessive form of complicated HSP mainly characterized by slowly progressive spastic paraparesis and mental deterioration beginning in the second decade of life. We report one HSP with TCC patient. MRI shows thin corpus callosum and abnormal signal in the region of the forceps minor. He had decreased bilateral thalamic metabolism on $_{18}F$-flurodeoxyglucose PET. The neuropsychological test profile showed global cognitive impairment. We identified mutation of Spastic Paraparesis Gene 11 (SPG11) gene, was mapped to chromosome 15q13-15.
Keywords
Spastic paraparesis; Cognitive impairment; Corpus callosum; SPG11 gene;
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Times Cited By KSCI : 1  (Citation Analysis)
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