一个携带P102L突变的意大利格斯特曼-施特劳斯勒-谢克尔综合征家族中的可变表型。
Variable phenotype in a P102L Gerstmann-Sträussler-Scheinker Italian family.
作者信息
De Michele Giuseppe, Pocchiari Maurizio, Petraroli Rossella, Manfredi Mario, Caneve Giorgio, Coppola Giovanni, Casali Carlo, Saccà Francesco, Piccardo Pedro, Salvatore Elena, Berardelli Alfredo, Orio Marcello, Barbieri Fabrizio, Ghetti Bernardino, Filla Alessandro
机构信息
Department of Neurological Sciences, Federico II University, Naples, Italy.
出版信息
Can J Neurol Sci. 2003 Aug;30(3):233-6. doi: 10.1017/s0317167100002651.
BACKGROUND
Gerstmann-Sträussler-Scheinker disease is an autosomal dominant prion disease. The clinical features include ataxia, dementia, spastic paraparesis and extrapyramidal signs.
METHODS
We report a new large Italian family affected by Gerstmann-Sträussler-Scheinker disease.
RESULTS
The four generation pedigree includes 11 patients. The mean age at onset +/- SD was 41.4 +/- 16.2 years. Mean disease duration to death in four patients was 5.5 +/- 1.7 years. Two clinical patterns were evident: cognitive impairment with scarce neurological features or ataxia followed by cognitive impairment. Molecular analysis showed P102L mutation in PRNP gene.
CONCLUSION
Three Italian families have been reported to date. The variable phenotype has already been reported, and does not appear related to the codon 129 polymorphism.
背景
格斯特曼-施特劳斯勒-谢inker病是一种常染色体显性朊病毒病。临床特征包括共济失调、痴呆、痉挛性截瘫和锥体外系体征。
方法
我们报告了一个受格斯特曼-施特劳斯勒-谢inker病影响的新的意大利大家庭。
结果
这个四代家系中有11名患者。发病时的平均年龄±标准差为41.4±16.2岁。4名患者从发病到死亡的平均病程为5.5±1.7年。有两种明显的临床模式：伴有轻微神经学特征的认知障碍或共济失调后出现认知障碍。分子分析显示PRNP基因存在P102L突变。
结论
迄今为止已报道了三个意大利家庭。已报道了可变表型，且似乎与密码子129多态性无关。
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