SPG 11 유전자 돌연변이를 보인 얇은 뇌량을 동반한 강직성 하지마비
Hereditary Spastic Paraplegia with Thin Corpus Callosum and SPG 11 Gene Mutation
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초록
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.
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 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.
참고문헌 (11)
- Fink JK, "Hereditary spastic paraplegia", Neurol Clin, 20, pp.711~716 (2002)
- Nakamura A, "Familial spastic paraplegia with mental impairment and thin corpus callosum", J Neurol Sci, 131, pp.35~42 (1995)
- 이재혁, "얇은 뇌량을 동반한 복합형 강직성 하지마비 2예", 대한신경과학회지, 22(4), pp.402~405 (2004), 대한신경과학회
- Lossos A, "Hereditary spastic paraplegia with thin corpus callosum", Arch Neurol, 63, pp.756~760 (2006)
- Stevanin G, "Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration", Brain, 131, pp.772~784 (2008)
- Samaranch L, "SPG11 compound mutations in spastic paraparesis with thin corpus callosum", Neurology, 71, pp.332~336 (2008)
- Shibasaki Y, "Linkage of autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum to chromosome 15A13-15", Ann Neurol, 48, pp.108~112 (2000)
- Katayama T, "A case of spastic paraparesis with mental deterioration and markedly thin corpus callosum callosal dysfunction demonstrated by magnetic stimulation", Rinsho Shinkeigaku, 38, pp.418~422 (1998)
- Wakabayashi K, "Autosomal recessive spastic paraplegia with hypoplastic corpus callosum, multisystem degeneration and ubiquitinated eosinophilic granules", Acta Neuropathol, 101, pp.69~73 (2001)
- Riverol M, "Forceps minor region signal abnormality “ears of the lynx”: an early MRI finding in spastic paraparesis with thin corpus callosum and mutations in the spatacsin gene (SPG11) on chromosome 15", J Neuroimaging, 19, pp.52~60 (2009)
- Siri1 L, "Cognitive profile in spastic paraplegia with thin corpus callosum and mutations in SPG11", Neuropediatrics, 41, pp.35~38 (2010)