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KMID : 1100220110100010037
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Dementia and Neurocognitive Disorders
2011 Volume.10 No. 1 p.37 ~ p.40
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Hereditary Spastic Paraplegia with Thin Corpus Callosum and SPG 11 Gene Mutation
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Chang Young-Hee
Baek Min-Jae
Kim Sang-Yun
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Abstract
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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 18F-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.
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KEYWORD
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Spastic paraparesis, Cognitive impairment, Corpus callosum, SPG11 gene
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