Isolated pyramidal tract impairment in the central nervous system of adult-onset Krabbe disease with novel mutations in the GALC gene

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• 作者：Shin-ichi Tokushige^a ; ^{tokushige-tky@umin.ac.jp} ; Tomohiro Sonoo^a ; Risa Maekawa^a ; Yuichiro Shirota^b ; Ritsuko Hanajima^b ; Yasuo Terao^b ; Hideyuki Matsumoto^b ; Mohammad Arif Hossain^c ; Norio Sakai^c ; Yasushi Shiio^a
• 关键词：Krabbe disease ; Magnetic resonance imaging (MRI) ; Motor evoked potential (MEP) ; Pyramidal tract ; Galactocerebrosidase (GALC)
• 刊名：Brain and Development
• 出版年：2013
• 出版时间：June, 2013
• 年：2013
• 卷：35
• 期：6
• 页码：579-581
• 全文大小：475 K

文摘

This report describes a 60-year-old female patient with Krabbe disease who presented with slowly progressive gait disturbance due to mild spastic paraplegia. Brain magnetic resonance imaging showed high-intensity lesions along the upper parts of the bilateral pyramidal tracts in fluid-attenuated inversion recovery images. Central motor conduction time was prolonged both in the upper and the lower extremities, while central sensory conduction time was normal. The reduced lymphocyte galactocerebrosidase (GALC) activity and two novel mutations in the GALC gene, p.G496S and p.G569S, proved the diagnosis of Krabbe disease. Our findings show that adult-onset Krabbe disease is characterized by isolated pyramidal tract impairment in the central nervous system, both neurophysiologically and radiologically.