具有弗里德赖希共济失调表型的迟发性隐性共济失调。
Late onset recessive ataxia with Friedreich's disease phenotype.
作者信息
De Michele G, Filla A, Barbieri F, Perretti A, Santoro L, Trombetta L, Santorelli F, Campanella G
机构信息
Department of Neurology, Second School of Medicine, Naples, Italy.
出版信息
J Neurol Neurosurg Psychiatry. 1989 Dec;52(12):1398-401. doi: 10.1136/jnnp.52.12.1398.
Abstract
The Quebec Cooperative Study on Friedreich's ataxia required an onset before age 20 as an obligatory criterion of Friedreich's disease (FD). Harding included patients with onset before 25 years. We studied nine patients with FD phenotype but with onset ranging from 21 to 29 years (mean 24.4). Statistical analysis of the distribution and intrafamilial variation of onset age suggests that late onset Friedreich's disease (LOFD) is a distinct genetic entity or results from modifying genes in some families. Scoliosis was less common in LOFD than FD patients but otherwise the clinical picture was similar.
摘要
魁北克弗里德赖希共济失调合作研究要求发病年龄在20岁之前作为弗里德赖希病（FD）的一项强制性标准。哈丁纳入了发病年龄在25岁之前的患者。我们研究了9例具有FD表型但发病年龄在21至29岁之间（平均24.4岁）的患者。对发病年龄的分布和家族内变异进行的统计分析表明，晚发性弗里德赖希病（LOFD）是一种独特的遗传实体，或者是某些家族中修饰基因导致的结果。脊柱侧弯在LOFD患者中比FD患者少见，但其他方面临床表现相似。
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本文引用的文献
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