Ragno M, De Michele G, Cavalcanti F, Pianese L, Monticelli A, Curatola L, Bollettini F, Cocozza S, Caruso G, Santoro L, Filla A
Department of Neurological Sciences, Federico II University, Naples, Italy.
Neurology. 1997 Dec;49(6):1617-20. doi: 10.1212/wnl.49.6.1617.
We describe three siblings from an Italian family affected by an autosomal recessive spinocerebellar degeneration. Gait ataxia, presenting between 38 and 45 years, was the first symptom in all three patients. Dysarthria, dysmetria, brisk tendon reflexes, extensor plantar response, and scoliosis were constant features. Disease progression was slow. Electrophysiologic studies demonstrated a slight reduction in sural nerve sensory action potential in only one patient. Analysis of GAA expansion within the X25 gene showed that patients were homozygous for the expansion, with the shorter expanded allele ranging from 120 to 156 triplets. The size of the GAA expansion may be smaller than we previously described. Such minimal expansions may result in atypical forms of Friedreich's ataxia.
我们描述了一个来自意大利家庭的三名患常染色体隐性遗传性脊髓小脑变性的兄弟姐妹。步态共济失调出现在38至45岁之间，是所有三名患者的首发症状。构音障碍、辨距不良、腱反射亢进、跖伸反射和脊柱侧弯是其常见特征。疾病进展缓慢。电生理研究仅在一名患者中显示腓肠神经感觉动作电位略有降低。对X25基因内GAA扩增的分析表明，患者为该扩增的纯合子，较短的扩增等位基因范围为120至156个三联体。GAA扩增的大小可能比我们之前描述的要小。这种最小限度的扩增可能导致弗里德赖希共济失调的非典型形式。
