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- W2389729715 abstract "Objective To investigate the clinical diagnosis of spinocerebellar ataxia(SCA)by clinical observation and genetic analysis in one parentage,4 generations.Methods Firstly,family investigation and pedigree analysis were performed,and the family charaeteristics were established by observing the age of onset,main complains,symptom duration and age of death.Then,the hereditary subtype was established through scanning the duplicate number of trinucleotide in pathogenic CAG of SCA1,SCA2,SCA3,SCA6,SCA7,SCA12 and DRPLA(Dentatorubral-Pallidoluysian Atrophy,DRPLA) by polymerase chain reaction and direct DNAsequencing in the proband and one of his asymptomatic daughter.Results The age of onset was 55 years in the first generation,50 years in the second generation,30-47years in the third generation and 20 years in the forth generation respectively,gait ataxia and slurred speech were the main symtoms.the duration from onset to death was 1-30 years.The SCA3 duplicate number of CAG was 20/73 in the propositus and 15/78 in his daughter,the other numbers were normal.the diagnosis of SCA3 was established.Conclusion DNA sequencing is useful to diagnose the SCAs and it's Asymptomatic patients." @default.
- W2389729715 created "2016-06-24" @default.
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- W2389729715 date "2013-01-01" @default.
- W2389729715 modified "2023-09-24" @default.
- W2389729715 title "Clinical characteristics and genetic analysis of 9 cases with spinocerebellar ataxia from 4 generations in one family" @default.
- W2389729715 hasPublicationYear "2013" @default.
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