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

Abstract：

: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.

journal_name

Brain Dev

journal_title

Brain & development

authors

Tokushige S,Sonoo T,Maekawa R,Shirota Y,Hanajima R,Terao Y,Matsumoto H,Hossain MA,Sakai N,Shiio Y

doi

10.1016/j.braindev.2012.08.004

subject

Has Abstract

pub_date

2013-06-01 00:00:00

pages

579-81

issue

6

eissn

0387-7604

issn

1872-7131

pii

S0387-7604(12)00213-6

journal_volume

35

pub_type

杂志文章

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