Clinical manifestation, imaging, and genotype analysis of two pedigrees with spinocerebellar ataxia |
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Authors: | Peipei Liu Yang Liu Weihong Gu Xiaonan Song |
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Institution: | (1) Department of Neurology, The First Affiliated Hospital, Jilin University, Changchun, 130021, China;(2) Department of radiology and imaging, The First Affiliated Hospital, Jilin University, Changchun, 130021, China;(3) Movement Disorder & Neurogenetic Research Center, China-Japan Friendship Hospital, Beijing, 100029, China; |
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Abstract: | The objective of this study was to analyze the clinical manifestation, imaging characteristics, genotype, and the relationship
between the three aforementioned parameters in two pedigrees suffering from spinocerebellar ataxia. To evaluate the clinical
manifestation of the two pedigrees and to compare the characteristics, we performed the MRI analysis of some patients from
both pedigrees, while 2 ml of the peripheral blood sample was collected for gene analysis. The gene analysis data showed that
pedigree 1 was certified spinocerebellar ataxia type-2 (SCA2); the CAG repeats in the proband, proband’s mother, and proband’s
brother were 44, 36, and 38, respectively. The MRI revealed brainstem cerebellar atrophy and “cross sign” and “ordinate sign”
of pons. Pedigree 2 was certified SCA1; the CAG repeats of the proband, proband’s aunt, and proband’s asymptomatic cousin
were 60, 51, and 52, respectively. The MRI revealed cerebellar atrophy in these individuals. We, therefore, concluded that
it was difficult to diagnose the SCA subset solely through the clinical manifestation. The imaging characteristics analysis
and final diagnosis depended basically on gene analysis data. |
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