title: 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.
authors.affiliation: Department of Neurology, Tokyo Teishin Hospital, 2-14-23 Fujimi, Chiyoda-ku, Tokyo, Japan. tokushige-tky@umin.ac.jp
authors.forename: Shin-ichi
authors.initials: S
authors.lastname: Tokushige
authors.forename: Tomohiro
authors.initials: T
authors.lastname: Sonoo
authors.forename: Risa
authors.initials: R
authors.lastname: Maekawa
authors.forename: Yuichiro
authors.initials: Y
authors.lastname: Shirota
authors.forename: Ritsuko
authors.initials: R
authors.lastname: Hanajima
authors.forename: Yasuo
authors.initials: Y
authors.lastname: Terao
authors.forename: Hideyuki
authors.initials: H
authors.lastname: Matsumoto
authors.forename: Mohammad Arif
authors.initials: MA
authors.lastname: Hossain
authors.forename: Norio
authors.initials: N
authors.lastname: Sakai
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Shiio
mesh_terms: D001921:Brain / Q000473:pathology; D004252:DNA Mutational Analysis; D019054:Evoked Potentials, Motor / Q000502:physiology; D005260:Female; D005698:Galactosylceramidase / Q000235:genetics*; D006801:Humans; D007965:Leukodystrophy, Globoid Cell / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009431:Neural Conduction / Q000235:genetics / Q000502:physiology; D011712:Pyramidal Tracts / Q000473:pathology*
chemical_list: D005698:Galactosylceramidase