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result sql = [The clinical and genetic studies in a family of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy].
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result sql = OBJECTIVE : To investigate the clinical features and genetic diagnostic method of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
METHODS : A systematic study on the clinical manifestations, neuroimaging characteristics, therapeutic measures and molecular genetics was performed. An investigation on the onset and hereditary pattern of the family was also done.
RESULTS : The main clinical features including poor memory and history of stroke were found. And no risk factors of hypertension and arteriosclerosis were found. A positive family history was confirmed. Neuroimaging examination showed multiinfarct lesions and leukoencephalopathy. All these features are in conformity with those of CADASIL. A mutation in the third and fourth exon of the NOTCH3 gene was identified in the 10 cases of 4 generations. The clinical or subclinical onset in the 10 cases was consistent with classical autosomal dominant inheritance.
CONCLUSION : The clinical and molecular genetic features of the family accord with CADASIL.
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result sql = [The clinical and genetic studies in a family of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy].
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char = l;code = 108
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char = ;code = 32
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char = i;code = 105
char = l;code = 108
char = y;code = 121
char = ;code = 32
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char = c;code = 99
char = c;code = 99
char = o;code = 111
char = r;code = 114
char = d;code = 100
char = ;code = 32
char = w;code = 119
char = i;code = 105
char = t;code = 116
char = h;code = 104
char = ;code = 32
char = C;code = 67
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result sql = OBJECTIVE : To investigate the clinical features and genetic diagnostic method of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
METHODS : A systematic study on the clinical manifestations, neuroimaging characteristics, therapeutic measures and molecular genetics was performed. An investigation on the onset and hereditary pattern of the family was also done.
RESULTS : The main clinical features including poor memory and history of stroke were found. And no risk factors of hypertension and arteriosclerosis were found. A positive family history was confirmed. Neuroimaging examination showed multiinfarct lesions and leukoencephalopathy. All these features are in conformity with those of CADASIL. A mutation in the third and fourth exon of the NOTCH3 gene was identified in the 10 cases of 4 generations. The clinical or subclinical onset in the 10 cases was consistent with classical autosomal dominant inheritance.
CONCLUSION : The clinical and molecular genetic features of the family accord with CADASIL.
Publication: Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2009 Apr ;26(2)::187-90. :doi: 10.3760/cma.j.issn.1003-9406.2009.02.015.
Publication Date: 2009 Apr
Study Author(s): Zhang, Li-fang;Yang, Xiao-su;Wang, Yu-fen;Pei, Lan-tian;
Institution: Department of Neurology, Central South University, Changsha, People's Republic of China.
Shortcut link to this study:
Publication Date: 2009 Apr
Study Author(s): Zhang, Li-fang;Yang, Xiao-su;Wang, Yu-fen;Pei, Lan-tian;
Institution: Department of Neurology, Central South University, Changsha, People's Republic of China.
Shortcut link to this study:
OBJECTIVE : To investigate the clinical features and genetic diagnostic method of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
METHODS : A systematic study on the clinical manifestations, neuroimaging characteristics, therapeutic measures and molecular genetics was performed. An investigation on the onset and hereditary pattern of the family was also done.
RESULTS : The main clinical features including poor memory and history of stroke were found. And no risk factors of hypertension and arteriosclerosis were found. A positive family history was confirmed. Neuroimaging examination showed multiinfarct lesions and leukoencephalopathy. All these features are in conformity with those of CADASIL. A mutation in the third and fourth exon of the NOTCH3 gene was identified in the 10 cases of 4 generations. The clinical or subclinical onset in the 10 cases was consistent with classical autosomal dominant inheritance.
CONCLUSION : The clinical and molecular genetic features of the family accord with CADASIL.
METHODS : A systematic study on the clinical manifestations, neuroimaging characteristics, therapeutic measures and molecular genetics was performed. An investigation on the onset and hereditary pattern of the family was also done.
RESULTS : The main clinical features including poor memory and history of stroke were found. And no risk factors of hypertension and arteriosclerosis were found. A positive family history was confirmed. Neuroimaging examination showed multiinfarct lesions and leukoencephalopathy. All these features are in conformity with those of CADASIL. A mutation in the third and fourth exon of the NOTCH3 gene was identified in the 10 cases of 4 generations. The clinical or subclinical onset in the 10 cases was consistent with classical autosomal dominant inheritance.
CONCLUSION : The clinical and molecular genetic features of the family accord with CADASIL.
PMID: 19350513
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