Recent results in ataxia research.

Rivista di neurologia Pub Date : 1991-07-01
P Giunti, M Spadaro, G B Colazza, C Morocutti
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Abstract

Five families with late onset spinocerebellar ataxia (SCA) were studied. A high association was found between the disease and HLA. A stronger association results with a marker called D6S89. Clinical data of 26 patients and neuropathological study in two are reported. The clinical phenotypes of other HLA-linked SCA kindreds shows differences when comparison is made. The Authors suggest that the phenotype might appear more homogeneous if disease duration is taken into account.

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共济失调研究的最新成果。
研究了5个迟发型脊髓小脑性共济失调(SCA)家族。发现该疾病与HLA之间存在高度关联。一种名为D6S89的标记与此有更强的关联。报告26例患者的临床资料及2例患者的神经病理研究。其他hla连锁SCA种类的临床表型在进行比较时显示出差异。作者认为,如果考虑到疾病持续时间,表型可能会显得更加均匀。
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