Clinical features and genetic analysis of a Spanish family with spinocerebellar ataxia 6
Clinical features and genetic analysis of a Spanish family with spinocerebellar ataxia 6
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西班牙1例脊髓小脑性共济失调家系的临床特征及遗传分析
DOI：
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发表时间：
1999
影响因子：
3.5
通讯作者：
F. Palau
中科院分区：
文献类型：
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作者：
J. Arpa;A. Cuesta;A. Cruz‐Martínez;S. Santiago;J. Sarria;F. Palau
目的 ‐ 介绍西班牙 SCA6 家族的临床特征和 DNA 分析。材料和方法 ‐ 对四名有症状的家庭成员（平均发病年龄：53.75 ± 5.21）进行了检查。通过聚合酶链式反应 (PCR) 分析先证者中的 SCA6 CAG 三核苷酸重复序列。结果 ‐ 最年长患者出现早期吞咽困难、眼肌麻痹和颈部肌张力障碍，但没有振动和本体感觉丧失，支持 SCA6 家族内表型变异的理论。我们的结果符合这样的理论：重复模式的大小与症状出现的年龄相关。对患者 DNA 中 CACNA1A 基因的 SCA6 CAG 三核苷酸重复进行的分析表明，存在 22 个 CAG 重复单元的扩展等位基因。结论 ‐ 这项研究确定了幸存亲属的表型差异。家庭成员或单个受影响患者的 SCA6 诊断可以通过直接分子分析进行。这使得预测测试成为可能。
Objective ‐ To present the clinical features and DNA analysis of a Spanish SCA6 family. Material and methods ‐ Four symptomatic members of the family (mean age at onset: 53.75 ± 5.21) were examined. SCA6 CAG trinucleotide repeat was analysed in the proband by the polymerase chain reaction (PCR). Results ‐ Early dysphagia, ophthalmoparesis and neck dystonia in the oldest patient, without the loss of vibratory and proprioceptive sensation supporting the theory of phenotypic variability within families with SCA6. Our results are in accordance with the theory that the size of the repeat pattern correlates with the age at onset of the symptoms. Analysis of the SCA6 CAG trinucleotide repeat at the CACNA1A gene in the patient's DNA demonstrated an expanded allele of 22 CAG repeat units. Conclusions ‐ This study identifies phenotypic differences in the surviving kindred. The diagnosis of SCA6 in family members or single affected patients can be made by direct molecular analysis. This makes predictive testing possible.
常染色体显性脊髓小脑共济失调 (SCA1) 基因将端粒映射到 HLA 复合体，并与三个大家族中的 D6S89 基因座密切相关。
影响因子：
9.8
作者：
Zoghbi,HY;Jodice,C;Sandkuijl,LA;KwiatkowskiJr,TJ;McCall,AE;Huntoon,SA;Lulli,P;Spadaro,M;Litt,M;Cann,HM
通讯作者：
Cann,HM