title: Adult onset Krabbe disease may mimic motor neurone disease.
abstract: Krabbe's disease (galactocerebrosidase deficiency) rarely presents in adults, usually with predominantly upper motor neurone clinical features. We report a case in whom the clinical features were similar to motor neurone disease. Nerve conduction studies and neuroimaging were important in leading to the correct diagnosis. Differences in adult-onset presentations are described.
authors.affiliation: Department of Neurology, Royal Brisbane Hospital, Brisbane, Australia.
authors.forename: R D
authors.initials: RD
authors.lastname: Henderson
authors.forename: J C
authors.initials: JC
authors.lastname: MacMillan
authors.forename: J M
authors.initials: JM
authors.lastname: Bradfield
mesh_terms: D017668:Age of Onset; D000368:Aged; D002556:Cerebrospinal Fluid Proteins / Q000032:analysis; D003937:Diagnosis, Differential; D005207:Fasciculation / Q000209:etiology; D020235:Gait Apraxia / Q000209:etiology; D006801:Humans; D007965:Leukodystrophy, Globoid Cell / Q000175:diagnosis / Q000503:physiopathology*; D008875:Middle Aged; D016472:Motor Neuron Disease / Q000175:diagnosis / Q000503:physiopathology*; D009046:Motor Neurons / Q000502:physiology; D009431:Neural Conduction / Q000502:physiology; D016138:Walking
chemical_list: D002556:Cerebrospinal Fluid Proteins